Dermatology

Mohs micrographic surgery (MMS) may be more effective than wide local excision (WLE) as a surgical treatment for localized T1/T2 Merkel cell carcinoma (MCC), results from a national retrospective cohort study suggest.

The study found that, in patients with pathologically confirmed, localized T1/T2 MCC, “treatment with MMS was associated with an approximately 40% reduction in hazard of death compared with WLE,” reported John A. Carucci, MD, PhD, and colleagues in the department of dermatology at NYU Langone Health, New York. The results provide “preliminary data suggesting that treatment of localized, early-stage MCC with MMS may result in the most optimal patient survival outcomes for this aggressive form of skin cancer,” they added. The study was published online in JAMA Dermatology.

“Although data for keratinocytic nonmelanoma skin cancers have been definitive in demonstrating the advantage of peripheral and deep en face margin assessment over conventional WLE or NME [narrow-margin excision], the data for MCC, likely because of the disease’s rarity and limitations of available data sets, have been mixed,” they wrote.

Results from national studies published in the Journal of the National Cancer Institute and the Journal of the American Academy of Dermatology found no difference in survival among patients with localized MCC treated with WLE versus MMS. “However, these studies did not have confirmed pathologic node status, a substantial limitation considering that clinically node-negative cases of localized MCC have sentinel lymph node positivity rates ranging from 25% to 40%,” the authors noted.

To evaluate the association of the surgical excision modality and patient survival for pathologically confirmed localized T1/T2 MCC, Dr. Carucci and coauthors examined a cohort of 2,313 patients from the National Cancer Database with T1/T2 MCC diagnosed between Jan. 1, 2004, and Dec. 31, 2018, with pathologically confirmed, negative regional lymph nodes and treated with surgery. Their mean age was 71 years and 57.9% were male. Of the 2,313 patients, 1,452 underwent WLE, 104 underwent MMS, and 757 underwent NME.

The unadjusted analysis revealed that, compared with WLE, excision with MMS had the best unadjusted mean survival rates: 87.4% versus 86.1%, respectively, at 3 years, 84.5% versus 76.9% at 5 years, and 81.8% versus 60.9% at 10 years. Patients treated with NME had similar mean survival rates as those treated with WLE: 84.8% at 3 years, 78.3% at 5 years, and 60.8% at 10 years.

Multivariable survival analysis demonstrated that treatment with MMS was associated with significantly improved survival, compared with WLE (hazard ratio, 0.59; 95% CI, 0.36-0.97; P = .04).

“These data suggest that MMS may provide a survival benefit in the treatment of localized MCC, although further prospective work studying this issue is required,” the authors concluded. “Future directions may also focus on elucidating the benefit of adjuvant radiotherapy in localized cases treated with MMS.”

They acknowledged certain limitations of the study, including the fewer numbers of patients receiving MMS surgery, lack of randomization, and potential for selection bias.

In an interview, Travis W. Blalock, MD, director of dermatologic surgery, Mohs micrographic surgery, and cutaneous oncology at Emory University, Atlanta, who was asked to comment on the study, said that the field of MCC “has undergone rapid and robust transformation over the past 20 years. These changes encompass advancements in diagnosing the condition, identifying linked viruses, and developing systemic treatments.”

The study findings “imply that comprehensive assessment of histologic margins might offer advantages beyond minimizing scars, minimizing functional impact, and reducing the likelihood of local recurrence,” he said.

“It’s beyond doubt,” he added, that the study “furnishes us with yet another set of real-world insights that will undoubtedly influence patient outcomes. These insights serve to bring clarity to the ways in which we can deliver precisely targeted surgical treatment with durable outcomes for localized MCC.”

Patricia M. Richey, MD, director of Mohs surgery at Boston University, who was also asked to comment on the study, added that, because of the nature of the National Cancer Database, “the authors of this study were unfortunately unable to report disease-specific survival or immunosuppression status. That being said, the preliminary data presented are convincing and should result in us further exploring this topic, as well as readdressing and questioning related issues such as whether or not adjuvant radiotherapy is truly beneficial in cases with histologic clearance via Mohs.”

Dr. Carucci reported receiving grant funding from Regeneron for investigator-initiated basic research. No other author disclosures were reported. Neither Dr. Blalock nor Dr. Richey had relevant disclosures.

Mohs micrographic surgery (MMS) may be more effective than wide local excision (WLE) as a surgical treatment for localized T1/T2 Merkel cell carcinoma (MCC), results from a national retrospective cohort study suggest.

The study found that, in patients with pathologically confirmed, localized T1/T2 MCC, “treatment with MMS was associated with an approximately 40% reduction in hazard of death compared with WLE,” reported John A. Carucci, MD, PhD, and colleagues in the department of dermatology at NYU Langone Health, New York. The results provide “preliminary data suggesting that treatment of localized, early-stage MCC with MMS may result in the most optimal patient survival outcomes for this aggressive form of skin cancer,” they added. The study was published online in JAMA Dermatology.

“Although data for keratinocytic nonmelanoma skin cancers have been definitive in demonstrating the advantage of peripheral and deep en face margin assessment over conventional WLE or NME [narrow-margin excision], the data for MCC, likely because of the disease’s rarity and limitations of available data sets, have been mixed,” they wrote.

Results from national studies published in the Journal of the National Cancer Institute and the Journal of the American Academy of Dermatology found no difference in survival among patients with localized MCC treated with WLE versus MMS. “However, these studies did not have confirmed pathologic node status, a substantial limitation considering that clinically node-negative cases of localized MCC have sentinel lymph node positivity rates ranging from 25% to 40%,” the authors noted.

To evaluate the association of the surgical excision modality and patient survival for pathologically confirmed localized T1/T2 MCC, Dr. Carucci and coauthors examined a cohort of 2,313 patients from the National Cancer Database with T1/T2 MCC diagnosed between Jan. 1, 2004, and Dec. 31, 2018, with pathologically confirmed, negative regional lymph nodes and treated with surgery. Their mean age was 71 years and 57.9% were male. Of the 2,313 patients, 1,452 underwent WLE, 104 underwent MMS, and 757 underwent NME.

The unadjusted analysis revealed that, compared with WLE, excision with MMS had the best unadjusted mean survival rates: 87.4% versus 86.1%, respectively, at 3 years, 84.5% versus 76.9% at 5 years, and 81.8% versus 60.9% at 10 years. Patients treated with NME had similar mean survival rates as those treated with WLE: 84.8% at 3 years, 78.3% at 5 years, and 60.8% at 10 years.

Multivariable survival analysis demonstrated that treatment with MMS was associated with significantly improved survival, compared with WLE (hazard ratio, 0.59; 95% CI, 0.36-0.97; P = .04).

“These data suggest that MMS may provide a survival benefit in the treatment of localized MCC, although further prospective work studying this issue is required,” the authors concluded. “Future directions may also focus on elucidating the benefit of adjuvant radiotherapy in localized cases treated with MMS.”

They acknowledged certain limitations of the study, including the fewer numbers of patients receiving MMS surgery, lack of randomization, and potential for selection bias.

In an interview, Travis W. Blalock, MD, director of dermatologic surgery, Mohs micrographic surgery, and cutaneous oncology at Emory University, Atlanta, who was asked to comment on the study, said that the field of MCC “has undergone rapid and robust transformation over the past 20 years. These changes encompass advancements in diagnosing the condition, identifying linked viruses, and developing systemic treatments.”

The study findings “imply that comprehensive assessment of histologic margins might offer advantages beyond minimizing scars, minimizing functional impact, and reducing the likelihood of local recurrence,” he said.

“It’s beyond doubt,” he added, that the study “furnishes us with yet another set of real-world insights that will undoubtedly influence patient outcomes. These insights serve to bring clarity to the ways in which we can deliver precisely targeted surgical treatment with durable outcomes for localized MCC.”

Patricia M. Richey, MD, director of Mohs surgery at Boston University, who was also asked to comment on the study, added that, because of the nature of the National Cancer Database, “the authors of this study were unfortunately unable to report disease-specific survival or immunosuppression status. That being said, the preliminary data presented are convincing and should result in us further exploring this topic, as well as readdressing and questioning related issues such as whether or not adjuvant radiotherapy is truly beneficial in cases with histologic clearance via Mohs.”

Dr. Carucci reported receiving grant funding from Regeneron for investigator-initiated basic research. No other author disclosures were reported. Neither Dr. Blalock nor Dr. Richey had relevant disclosures.

Mohs micrographic surgery (MMS) may be more effective than wide local excision (WLE) as a surgical treatment for localized T1/T2 Merkel cell carcinoma (MCC), results from a national retrospective cohort study suggest.

The study found that, in patients with pathologically confirmed, localized T1/T2 MCC, “treatment with MMS was associated with an approximately 40% reduction in hazard of death compared with WLE,” reported John A. Carucci, MD, PhD, and colleagues in the department of dermatology at NYU Langone Health, New York. The results provide “preliminary data suggesting that treatment of localized, early-stage MCC with MMS may result in the most optimal patient survival outcomes for this aggressive form of skin cancer,” they added. The study was published online in JAMA Dermatology.

“Although data for keratinocytic nonmelanoma skin cancers have been definitive in demonstrating the advantage of peripheral and deep en face margin assessment over conventional WLE or NME [narrow-margin excision], the data for MCC, likely because of the disease’s rarity and limitations of available data sets, have been mixed,” they wrote.

Results from national studies published in the Journal of the National Cancer Institute and the Journal of the American Academy of Dermatology found no difference in survival among patients with localized MCC treated with WLE versus MMS. “However, these studies did not have confirmed pathologic node status, a substantial limitation considering that clinically node-negative cases of localized MCC have sentinel lymph node positivity rates ranging from 25% to 40%,” the authors noted.

To evaluate the association of the surgical excision modality and patient survival for pathologically confirmed localized T1/T2 MCC, Dr. Carucci and coauthors examined a cohort of 2,313 patients from the National Cancer Database with T1/T2 MCC diagnosed between Jan. 1, 2004, and Dec. 31, 2018, with pathologically confirmed, negative regional lymph nodes and treated with surgery. Their mean age was 71 years and 57.9% were male. Of the 2,313 patients, 1,452 underwent WLE, 104 underwent MMS, and 757 underwent NME.

The unadjusted analysis revealed that, compared with WLE, excision with MMS had the best unadjusted mean survival rates: 87.4% versus 86.1%, respectively, at 3 years, 84.5% versus 76.9% at 5 years, and 81.8% versus 60.9% at 10 years. Patients treated with NME had similar mean survival rates as those treated with WLE: 84.8% at 3 years, 78.3% at 5 years, and 60.8% at 10 years.

Multivariable survival analysis demonstrated that treatment with MMS was associated with significantly improved survival, compared with WLE (hazard ratio, 0.59; 95% CI, 0.36-0.97; P = .04).

“These data suggest that MMS may provide a survival benefit in the treatment of localized MCC, although further prospective work studying this issue is required,” the authors concluded. “Future directions may also focus on elucidating the benefit of adjuvant radiotherapy in localized cases treated with MMS.”

They acknowledged certain limitations of the study, including the fewer numbers of patients receiving MMS surgery, lack of randomization, and potential for selection bias.

In an interview, Travis W. Blalock, MD, director of dermatologic surgery, Mohs micrographic surgery, and cutaneous oncology at Emory University, Atlanta, who was asked to comment on the study, said that the field of MCC “has undergone rapid and robust transformation over the past 20 years. These changes encompass advancements in diagnosing the condition, identifying linked viruses, and developing systemic treatments.”

The study findings “imply that comprehensive assessment of histologic margins might offer advantages beyond minimizing scars, minimizing functional impact, and reducing the likelihood of local recurrence,” he said.

“It’s beyond doubt,” he added, that the study “furnishes us with yet another set of real-world insights that will undoubtedly influence patient outcomes. These insights serve to bring clarity to the ways in which we can deliver precisely targeted surgical treatment with durable outcomes for localized MCC.”

Patricia M. Richey, MD, director of Mohs surgery at Boston University, who was also asked to comment on the study, added that, because of the nature of the National Cancer Database, “the authors of this study were unfortunately unable to report disease-specific survival or immunosuppression status. That being said, the preliminary data presented are convincing and should result in us further exploring this topic, as well as readdressing and questioning related issues such as whether or not adjuvant radiotherapy is truly beneficial in cases with histologic clearance via Mohs.”

Dr. Carucci reported receiving grant funding from Regeneron for investigator-initiated basic research. No other author disclosures were reported. Neither Dr. Blalock nor Dr. Richey had relevant disclosures.

ASHEVILLE, N.C. – Treating chronic pediatric skin diseases requires an understanding of the barriers that many children face in obtaining the consistent health care they need, according to a pediatric dermatologist who addressed the annual meeting of the Society for Pediatric Dermatology.

As a general principle for treating chronic skin conditions in children who are not doing well, it is reasonable to draw out information about a patient’s access to adequate housing, nutrition, and other basic needs, George Hightower, MD, PhD, of the division of pediatric and adolescent dermatology, University of California, San Diego, said at the meeting.

“We need conversations about where patients play, learn, and rest their heads at night,” said Dr. Hightower, who conducts research in this area. Fundamental components of well-being, such as stable housing and secure access to nutrition “are inseparable” from a child’s health, he noted.

“What are the stakes?” he asked. For many children, these factors might mean the difference between effective and poor control of the diseases for which the patient is seeking care.

To illustrate the point, Dr. Hightower used hidradenitis suppurativa (HS), a disease that appears to be on the rise among adolescents, as an example of why patient circumstances matter and should be considered. A complex disorder that is more prevalent in resource-poor communities, HS is difficult to control, often requiring extended periods of treatment with medications that can involve complex dosing or regular infusions.

“There is a need for medical providers to help the patient plan for this chronic illness,” said Dr. Hightower, referring to the importance of close follow-up. In adolescents, HS can be sufficiently disruptive from both the physical and psychological perspective that poor control can “derail future aspirations” by complicating educational endeavors and social interactions.

Dr. Hightower acknowledged that simply documenting housing insecurity or other issues does not solve these problems, but he does believe that developing a sensitivity to these obstacles to health care is a first step. It is a process that should permeate into medical training, health care research, and strategies to improve outcomes.

“The connections between fair housing and clinical practice may appear tenuous and inconsequential to the care provided by medical specialists,” Dr. Hightower said, but he emphasized that there are clear consequences when these factors contribute to inadequate control of such diseases as HS. As a source of missed appointments and disjointed care, an unstable home life can be an important barrier to disease control – and because of scarring nodules, fistulae, pain, school absences, and social isolation, complications can be dire.

Solutions to insecure housing are not typically available to an individual clinician, but the awareness that this can be a factor can help both physicians and patients begin to think about the role this plays in impairing recovery and what solutions might be found to modify the impact. Awareness not just among individual clinicians but a broader consortium of those working to improve health care outcomes is needed to “challenge the way we are doing medicine,” he said.

While conversations about the social determinants of health, including access to resources within patients’ neighborhoods, schools, and environment, can demonstrate concern about how to address obstacles, it can also be part of a reorientation to think beyond treatment for the underlying pathology alone. Eliciting trust and emphasizing the importance of environmental barriers to adequate care can be positive steps on the path to solutions.


 

Participatory action research

Relevant to this orientation, Dr. Hightower spoke about participatory action research (PAR), which provides a framework for patients to participate in the planning of clinical studies to effect change, not just serve as subjects in these studies.

The assumption of PAR is that “all people have valuable knowledge about their lives and experiences,” Dr. Hightower said. From this assumption, individuals who have been historically marginalized by race, income, or other factors can help define the problems from the patient’s perspective and, from there, create studies to seek solutions.

PAR is consistent with a patient-centered approach to medical care, which Dr. Hightower called “the future of medicine.” It involves a big-picture approach to look beyond disease pathology and symptoms to factors that might be creating susceptibility to disease and undermining health care.

Organized medicine alone cannot solve the cause of social inequities leading to disparate risks for disease and risks of inadequate health care, but Dr. Hightower argued that these inequities should not be ignored. He believes medical trainees should learn how to elicit information about the barriers to adequate health care and be aware of solutions, such as fair housing policies.

While he believes that PAR is an example of a pathway to problem solving, he suggested that a comprehensive approach requires an effective method of communication between providers and patients that would lead to a collaborative and mutually reinforcing approach.

“How do we ensure that individuals from communities most impacted by health disparities are treated fairly and empowered to address these disparities?” Dr. Hightower asked. He said that this is the direction of his own research and the issues that inhibit adequate treatment of many dermatologic diseases, as well as other types of disease, in childhood.

Craig Burkhart, MD, director of a private pediatric and adolescent dermatology practice in Cary, N.C., said that Dr. Hightower’s message is relevant. The value of considering and addressing the psychological well-being of patients of any age is not a new concept, but he acknowledged that he, for one, has not routinely inquired about obstacles to follow-up care if there is a signal that this might be an issue.

“As dermatologists, we focus on the acute complaints. We want to make the patient better,” said Dr. Burkhart, who moderated the session in which Dr. Hightower spoke. He agreed with Dr. Hightower that environmental factors make a difference on the road to recovery for a patient, and his presentation was a good reminder, he said, to consider the patient’s circumstances when response to treatment is inadequate, particularly in chronic diseases like HS, for which comprehensive care and close follow-up are needed.

Dr. Hightower and Dr. Burkhart report no potential conflicts of interest.

ASHEVILLE, N.C. – Treating chronic pediatric skin diseases requires an understanding of the barriers that many children face in obtaining the consistent health care they need, according to a pediatric dermatologist who addressed the annual meeting of the Society for Pediatric Dermatology.

As a general principle for treating chronic skin conditions in children who are not doing well, it is reasonable to draw out information about a patient’s access to adequate housing, nutrition, and other basic needs, George Hightower, MD, PhD, of the division of pediatric and adolescent dermatology, University of California, San Diego, said at the meeting.

“We need conversations about where patients play, learn, and rest their heads at night,” said Dr. Hightower, who conducts research in this area. Fundamental components of well-being, such as stable housing and secure access to nutrition “are inseparable” from a child’s health, he noted.

“What are the stakes?” he asked. For many children, these factors might mean the difference between effective and poor control of the diseases for which the patient is seeking care.

To illustrate the point, Dr. Hightower used hidradenitis suppurativa (HS), a disease that appears to be on the rise among adolescents, as an example of why patient circumstances matter and should be considered. A complex disorder that is more prevalent in resource-poor communities, HS is difficult to control, often requiring extended periods of treatment with medications that can involve complex dosing or regular infusions.

“There is a need for medical providers to help the patient plan for this chronic illness,” said Dr. Hightower, referring to the importance of close follow-up. In adolescents, HS can be sufficiently disruptive from both the physical and psychological perspective that poor control can “derail future aspirations” by complicating educational endeavors and social interactions.

Dr. Hightower acknowledged that simply documenting housing insecurity or other issues does not solve these problems, but he does believe that developing a sensitivity to these obstacles to health care is a first step. It is a process that should permeate into medical training, health care research, and strategies to improve outcomes.

“The connections between fair housing and clinical practice may appear tenuous and inconsequential to the care provided by medical specialists,” Dr. Hightower said, but he emphasized that there are clear consequences when these factors contribute to inadequate control of such diseases as HS. As a source of missed appointments and disjointed care, an unstable home life can be an important barrier to disease control – and because of scarring nodules, fistulae, pain, school absences, and social isolation, complications can be dire.

Solutions to insecure housing are not typically available to an individual clinician, but the awareness that this can be a factor can help both physicians and patients begin to think about the role this plays in impairing recovery and what solutions might be found to modify the impact. Awareness not just among individual clinicians but a broader consortium of those working to improve health care outcomes is needed to “challenge the way we are doing medicine,” he said.

While conversations about the social determinants of health, including access to resources within patients’ neighborhoods, schools, and environment, can demonstrate concern about how to address obstacles, it can also be part of a reorientation to think beyond treatment for the underlying pathology alone. Eliciting trust and emphasizing the importance of environmental barriers to adequate care can be positive steps on the path to solutions.


 

Participatory action research

Relevant to this orientation, Dr. Hightower spoke about participatory action research (PAR), which provides a framework for patients to participate in the planning of clinical studies to effect change, not just serve as subjects in these studies.

The assumption of PAR is that “all people have valuable knowledge about their lives and experiences,” Dr. Hightower said. From this assumption, individuals who have been historically marginalized by race, income, or other factors can help define the problems from the patient’s perspective and, from there, create studies to seek solutions.

PAR is consistent with a patient-centered approach to medical care, which Dr. Hightower called “the future of medicine.” It involves a big-picture approach to look beyond disease pathology and symptoms to factors that might be creating susceptibility to disease and undermining health care.

Organized medicine alone cannot solve the cause of social inequities leading to disparate risks for disease and risks of inadequate health care, but Dr. Hightower argued that these inequities should not be ignored. He believes medical trainees should learn how to elicit information about the barriers to adequate health care and be aware of solutions, such as fair housing policies.

While he believes that PAR is an example of a pathway to problem solving, he suggested that a comprehensive approach requires an effective method of communication between providers and patients that would lead to a collaborative and mutually reinforcing approach.

“How do we ensure that individuals from communities most impacted by health disparities are treated fairly and empowered to address these disparities?” Dr. Hightower asked. He said that this is the direction of his own research and the issues that inhibit adequate treatment of many dermatologic diseases, as well as other types of disease, in childhood.

Craig Burkhart, MD, director of a private pediatric and adolescent dermatology practice in Cary, N.C., said that Dr. Hightower’s message is relevant. The value of considering and addressing the psychological well-being of patients of any age is not a new concept, but he acknowledged that he, for one, has not routinely inquired about obstacles to follow-up care if there is a signal that this might be an issue.

“As dermatologists, we focus on the acute complaints. We want to make the patient better,” said Dr. Burkhart, who moderated the session in which Dr. Hightower spoke. He agreed with Dr. Hightower that environmental factors make a difference on the road to recovery for a patient, and his presentation was a good reminder, he said, to consider the patient’s circumstances when response to treatment is inadequate, particularly in chronic diseases like HS, for which comprehensive care and close follow-up are needed.

Dr. Hightower and Dr. Burkhart report no potential conflicts of interest.

ASHEVILLE, N.C. – Treating chronic pediatric skin diseases requires an understanding of the barriers that many children face in obtaining the consistent health care they need, according to a pediatric dermatologist who addressed the annual meeting of the Society for Pediatric Dermatology.

As a general principle for treating chronic skin conditions in children who are not doing well, it is reasonable to draw out information about a patient’s access to adequate housing, nutrition, and other basic needs, George Hightower, MD, PhD, of the division of pediatric and adolescent dermatology, University of California, San Diego, said at the meeting.

“We need conversations about where patients play, learn, and rest their heads at night,” said Dr. Hightower, who conducts research in this area. Fundamental components of well-being, such as stable housing and secure access to nutrition “are inseparable” from a child’s health, he noted.

“What are the stakes?” he asked. For many children, these factors might mean the difference between effective and poor control of the diseases for which the patient is seeking care.

To illustrate the point, Dr. Hightower used hidradenitis suppurativa (HS), a disease that appears to be on the rise among adolescents, as an example of why patient circumstances matter and should be considered. A complex disorder that is more prevalent in resource-poor communities, HS is difficult to control, often requiring extended periods of treatment with medications that can involve complex dosing or regular infusions.

“There is a need for medical providers to help the patient plan for this chronic illness,” said Dr. Hightower, referring to the importance of close follow-up. In adolescents, HS can be sufficiently disruptive from both the physical and psychological perspective that poor control can “derail future aspirations” by complicating educational endeavors and social interactions.

Dr. Hightower acknowledged that simply documenting housing insecurity or other issues does not solve these problems, but he does believe that developing a sensitivity to these obstacles to health care is a first step. It is a process that should permeate into medical training, health care research, and strategies to improve outcomes.

“The connections between fair housing and clinical practice may appear tenuous and inconsequential to the care provided by medical specialists,” Dr. Hightower said, but he emphasized that there are clear consequences when these factors contribute to inadequate control of such diseases as HS. As a source of missed appointments and disjointed care, an unstable home life can be an important barrier to disease control – and because of scarring nodules, fistulae, pain, school absences, and social isolation, complications can be dire.

Solutions to insecure housing are not typically available to an individual clinician, but the awareness that this can be a factor can help both physicians and patients begin to think about the role this plays in impairing recovery and what solutions might be found to modify the impact. Awareness not just among individual clinicians but a broader consortium of those working to improve health care outcomes is needed to “challenge the way we are doing medicine,” he said.

While conversations about the social determinants of health, including access to resources within patients’ neighborhoods, schools, and environment, can demonstrate concern about how to address obstacles, it can also be part of a reorientation to think beyond treatment for the underlying pathology alone. Eliciting trust and emphasizing the importance of environmental barriers to adequate care can be positive steps on the path to solutions.


 

Participatory action research

Relevant to this orientation, Dr. Hightower spoke about participatory action research (PAR), which provides a framework for patients to participate in the planning of clinical studies to effect change, not just serve as subjects in these studies.

The assumption of PAR is that “all people have valuable knowledge about their lives and experiences,” Dr. Hightower said. From this assumption, individuals who have been historically marginalized by race, income, or other factors can help define the problems from the patient’s perspective and, from there, create studies to seek solutions.

PAR is consistent with a patient-centered approach to medical care, which Dr. Hightower called “the future of medicine.” It involves a big-picture approach to look beyond disease pathology and symptoms to factors that might be creating susceptibility to disease and undermining health care.

Organized medicine alone cannot solve the cause of social inequities leading to disparate risks for disease and risks of inadequate health care, but Dr. Hightower argued that these inequities should not be ignored. He believes medical trainees should learn how to elicit information about the barriers to adequate health care and be aware of solutions, such as fair housing policies.

While he believes that PAR is an example of a pathway to problem solving, he suggested that a comprehensive approach requires an effective method of communication between providers and patients that would lead to a collaborative and mutually reinforcing approach.

“How do we ensure that individuals from communities most impacted by health disparities are treated fairly and empowered to address these disparities?” Dr. Hightower asked. He said that this is the direction of his own research and the issues that inhibit adequate treatment of many dermatologic diseases, as well as other types of disease, in childhood.

Craig Burkhart, MD, director of a private pediatric and adolescent dermatology practice in Cary, N.C., said that Dr. Hightower’s message is relevant. The value of considering and addressing the psychological well-being of patients of any age is not a new concept, but he acknowledged that he, for one, has not routinely inquired about obstacles to follow-up care if there is a signal that this might be an issue.

“As dermatologists, we focus on the acute complaints. We want to make the patient better,” said Dr. Burkhart, who moderated the session in which Dr. Hightower spoke. He agreed with Dr. Hightower that environmental factors make a difference on the road to recovery for a patient, and his presentation was a good reminder, he said, to consider the patient’s circumstances when response to treatment is inadequate, particularly in chronic diseases like HS, for which comprehensive care and close follow-up are needed.

Dr. Hightower and Dr. Burkhart report no potential conflicts of interest.

Clinicians are using dupilumab off label to treat a wider range of allergic conditions in adults and children.

The drug, marketed as Dupixent, is currently approved in the United States to treat atopic dermatitis, asthma, chronic rhinosinusitis with nasal polyposis, eosinophilic esophagitis, and prurigo nodularis in adults. Dupilumab is also approved to treat eosinophilic esophagitis in patients aged 12 years and older and atopic dermatitis and asthma in some patients as young as age 6 months.

As the roster of approved and off-label indications grows, skin specialists said, pediatricians and other primary care providers should become familiar with the drug – given the increasing likelihood that their patients may be taking the medication.

The U.S. Food and Drug Administration first approved dupilumab in 2017 for eczema and has continued to add new treatment indications, the most recent being for prurigo nodularis, in 2022. Sanofi, which markets the drug with Regeneron, announced in April 2022 that some 430,000 patients worldwide were taking the drug – a figure it hoped to raise by 1.5 million by 2025.
 

A well-tolerated – if expensive – drug

Dupilumab, an interleukin-4 (IL-4) receptor alpha-antagonist biologic, blocks both IL-4 and IL-13 signaling, Marlys Fassett, MD, PhD, associate professor of dermatology at the University of California, San Francisco, told this news organization.

Dr. Fassett said she prescribes the drug off label for chronic idiopathic urticaria, including in older patients, and finds that the side effects in older patients are similar to those in younger people. The medication costs $36,000 per year, although some patients can get it more cheaply.

“Dupixent is a super-safe drug because it doesn’t immunosuppress any other part of the immune system, so you still have good antibacterial, antiviral, and antifungal immunity,” she added. “That makes perfect sense as a biological mechanism, and it’s been found safe in clinical trials.”

Case reports of potential adverse reactions to dupilumab have included ocular surface disease, lichen planus, and rash on the face and neck.

“We’re still learning about complications and are watching patients carefully,” said Marissa J. Perman, MD, section chief of dermatology at Children’s Hospital of Philadelphia.

Many people with atopic dermatitis also have other allergic conditions, such as contact dermatitis, asthma, prurigo nodularis, allergic rhinitis, and seasonal allergies. Each of these conditions has a pathway that depends on IL-4 receptors, Dr. Fassett said.

“It’s amazing how many conditions Dupixent improves. Sometimes we prescribe on-label Dupixent for atopic dermatitis, and inadvertently, the drug also improves that patient’s other, off-label conditions,” Dr. Fassett said. “I think that’s the best evidence that Dupixent works in these off-label cases.”

Lindsay C. Strowd, MD, associate professor of dermatology at Wake Forest University, Winston-Salem, N.C., said she uses off-label dupilumab to treat bullous pemphigoid and intense pruritus of unknown etiology.

“And several times I have treated drug reaction with eosinophilia and systemic symptoms, a rare adverse drug reaction that causes a rash and eosinophilia,” Dr. Strowd added.

Tissa Hata, MD, professor of medicine and clinical service chief at the University of California, San Diego, mainly treats elderly patients. She uses dupilumab to treat bullous pemphigoid and chronic pruritus. “There have been reports of using Dupixent to treat adult alopecia areata, chronic urticaria, localized scleroderma, and even keloids,” she told this news organization.

As a pediatric dermatologist, Dr. Perman treats children with atopic dermatitis as young as 3 months of age. She also uses dupilumab for alopecia areata, graft vs. host disease, and pruritus not otherwise specified.

Conjunctivitis and facial redness are two side effects Dr. Fassett sometimes sees with dupilumab. They occur similarly with all conditions and in all age groups. “We don’t know why they occur, and we don’t always know how to alleviate them,” she said. “So a small number of patients stop using Dupixent because they can’t tolerate those two side effects.

“We’re not worried about infection risk,” Dr. Fassett said. “Your patients may have heard of dupilumab as an immunosuppressant, but its immunosuppression is very focused. You can reassure them that they’re not at increased risk for viral or bacterial infections when they’re on this drug.”

“I don’t think there are any different safety signals to watch for with on-label vs. off-label Dupixent use,” Dr. Strowd added. “In general, the medicine is very safe.”

Dr. Hata said she is impressed with dupilumab’s safety in her elderly patients. All her patients older than 85 years who have taken the drug for bullous pemphigoid have tolerated it well, she said.

“Dupixent seems to be a safe alternative for elderly patients with pruritus because they often cannot tolerate sedating antihistamines due to the risk of falling,” Dr. Hata said. “And UV therapy may be difficult for elderly patients due to problems with transport.”

Although some of Dr. Hata’s elderly patients with atopic dermatitis have discontinued use of the drug after developing conjunctivitis, none taking the drug off label have discontinued it because of side effects, she noted.

“Dupixent manages the condition, but it is not a cure,” Dr. Fassett noted. “Based on the current data, we think it’s safe and effective to take long term, potentially for life.”

Making injections less bothersome

Dupilumab is injected subcutaneously from a single-dose prefilled syringe or a prefilled pen (syringe hidden in an opaque sheath), typically in the thigh, arm, abdomen, or buttocks. According to Sanofi and Regeneron, patients receive dupilumab injections every 2 to 4 weeks in doses based on their age and weight.

“The medication is somewhat viscous, so taking the syringe or pen out of the refrigerator ahead of time to warm it up can make the experience less painful,” Dr. Strowd advised. “For pediatric patients, I sometimes prescribe topical lidocaine applied 30 minutes before injection.”

Dr. Hata suggested icing the skin prior to injecting or distracting the patient by tapping a different area of the skin.

For her pediatric patients, Dr. Perman said she uses “lots of distraction, EMLA cream, and having one person hold the child while a second person injects.”

Clinic and pharmacy staff may show patients how to inject properly, Dr. Fassett added; and the product website provides injection tutorials.
 

Off-label dupixent can be expensive, difficult to obtain

The list price per injection, regardless of dose, is around $1,800. But according to the company’s website, most patients have health insurance or qualify for other assistance, so “very few patients pay the list price.”

Even so, “due to cost and insurance coverage hurdles, obtaining Dupixent for off-label use can be difficult,” Dr. Strowd said.

“In academic medicine, we can obtain drugs for our patients that community doctors may not get approval for,” Dr. Fassett added. “Community doctors can use information in the medical literature and in news articles to press insurance companies to spend money to provide their patients with Dupixent.”

The experts who commented have disclosed no relevant financial relationships.

A version of this article appeared on Medscape.com.

Clinicians are using dupilumab off label to treat a wider range of allergic conditions in adults and children.

The drug, marketed as Dupixent, is currently approved in the United States to treat atopic dermatitis, asthma, chronic rhinosinusitis with nasal polyposis, eosinophilic esophagitis, and prurigo nodularis in adults. Dupilumab is also approved to treat eosinophilic esophagitis in patients aged 12 years and older and atopic dermatitis and asthma in some patients as young as age 6 months.

As the roster of approved and off-label indications grows, skin specialists said, pediatricians and other primary care providers should become familiar with the drug – given the increasing likelihood that their patients may be taking the medication.

The U.S. Food and Drug Administration first approved dupilumab in 2017 for eczema and has continued to add new treatment indications, the most recent being for prurigo nodularis, in 2022. Sanofi, which markets the drug with Regeneron, announced in April 2022 that some 430,000 patients worldwide were taking the drug – a figure it hoped to raise by 1.5 million by 2025.
 

A well-tolerated – if expensive – drug

Dupilumab, an interleukin-4 (IL-4) receptor alpha-antagonist biologic, blocks both IL-4 and IL-13 signaling, Marlys Fassett, MD, PhD, associate professor of dermatology at the University of California, San Francisco, told this news organization.

Dr. Fassett said she prescribes the drug off label for chronic idiopathic urticaria, including in older patients, and finds that the side effects in older patients are similar to those in younger people. The medication costs $36,000 per year, although some patients can get it more cheaply.

“Dupixent is a super-safe drug because it doesn’t immunosuppress any other part of the immune system, so you still have good antibacterial, antiviral, and antifungal immunity,” she added. “That makes perfect sense as a biological mechanism, and it’s been found safe in clinical trials.”

Case reports of potential adverse reactions to dupilumab have included ocular surface disease, lichen planus, and rash on the face and neck.

“We’re still learning about complications and are watching patients carefully,” said Marissa J. Perman, MD, section chief of dermatology at Children’s Hospital of Philadelphia.

Many people with atopic dermatitis also have other allergic conditions, such as contact dermatitis, asthma, prurigo nodularis, allergic rhinitis, and seasonal allergies. Each of these conditions has a pathway that depends on IL-4 receptors, Dr. Fassett said.

“It’s amazing how many conditions Dupixent improves. Sometimes we prescribe on-label Dupixent for atopic dermatitis, and inadvertently, the drug also improves that patient’s other, off-label conditions,” Dr. Fassett said. “I think that’s the best evidence that Dupixent works in these off-label cases.”

Lindsay C. Strowd, MD, associate professor of dermatology at Wake Forest University, Winston-Salem, N.C., said she uses off-label dupilumab to treat bullous pemphigoid and intense pruritus of unknown etiology.

“And several times I have treated drug reaction with eosinophilia and systemic symptoms, a rare adverse drug reaction that causes a rash and eosinophilia,” Dr. Strowd added.

Tissa Hata, MD, professor of medicine and clinical service chief at the University of California, San Diego, mainly treats elderly patients. She uses dupilumab to treat bullous pemphigoid and chronic pruritus. “There have been reports of using Dupixent to treat adult alopecia areata, chronic urticaria, localized scleroderma, and even keloids,” she told this news organization.

As a pediatric dermatologist, Dr. Perman treats children with atopic dermatitis as young as 3 months of age. She also uses dupilumab for alopecia areata, graft vs. host disease, and pruritus not otherwise specified.

Conjunctivitis and facial redness are two side effects Dr. Fassett sometimes sees with dupilumab. They occur similarly with all conditions and in all age groups. “We don’t know why they occur, and we don’t always know how to alleviate them,” she said. “So a small number of patients stop using Dupixent because they can’t tolerate those two side effects.

“We’re not worried about infection risk,” Dr. Fassett said. “Your patients may have heard of dupilumab as an immunosuppressant, but its immunosuppression is very focused. You can reassure them that they’re not at increased risk for viral or bacterial infections when they’re on this drug.”

“I don’t think there are any different safety signals to watch for with on-label vs. off-label Dupixent use,” Dr. Strowd added. “In general, the medicine is very safe.”

Dr. Hata said she is impressed with dupilumab’s safety in her elderly patients. All her patients older than 85 years who have taken the drug for bullous pemphigoid have tolerated it well, she said.

“Dupixent seems to be a safe alternative for elderly patients with pruritus because they often cannot tolerate sedating antihistamines due to the risk of falling,” Dr. Hata said. “And UV therapy may be difficult for elderly patients due to problems with transport.”

Although some of Dr. Hata’s elderly patients with atopic dermatitis have discontinued use of the drug after developing conjunctivitis, none taking the drug off label have discontinued it because of side effects, she noted.

“Dupixent manages the condition, but it is not a cure,” Dr. Fassett noted. “Based on the current data, we think it’s safe and effective to take long term, potentially for life.”

Making injections less bothersome

Dupilumab is injected subcutaneously from a single-dose prefilled syringe or a prefilled pen (syringe hidden in an opaque sheath), typically in the thigh, arm, abdomen, or buttocks. According to Sanofi and Regeneron, patients receive dupilumab injections every 2 to 4 weeks in doses based on their age and weight.

“The medication is somewhat viscous, so taking the syringe or pen out of the refrigerator ahead of time to warm it up can make the experience less painful,” Dr. Strowd advised. “For pediatric patients, I sometimes prescribe topical lidocaine applied 30 minutes before injection.”

Dr. Hata suggested icing the skin prior to injecting or distracting the patient by tapping a different area of the skin.

For her pediatric patients, Dr. Perman said she uses “lots of distraction, EMLA cream, and having one person hold the child while a second person injects.”

Clinic and pharmacy staff may show patients how to inject properly, Dr. Fassett added; and the product website provides injection tutorials.
 

Off-label dupixent can be expensive, difficult to obtain

The list price per injection, regardless of dose, is around $1,800. But according to the company’s website, most patients have health insurance or qualify for other assistance, so “very few patients pay the list price.”

Even so, “due to cost and insurance coverage hurdles, obtaining Dupixent for off-label use can be difficult,” Dr. Strowd said.

“In academic medicine, we can obtain drugs for our patients that community doctors may not get approval for,” Dr. Fassett added. “Community doctors can use information in the medical literature and in news articles to press insurance companies to spend money to provide their patients with Dupixent.”

The experts who commented have disclosed no relevant financial relationships.

A version of this article appeared on Medscape.com.

Clinicians are using dupilumab off label to treat a wider range of allergic conditions in adults and children.

The drug, marketed as Dupixent, is currently approved in the United States to treat atopic dermatitis, asthma, chronic rhinosinusitis with nasal polyposis, eosinophilic esophagitis, and prurigo nodularis in adults. Dupilumab is also approved to treat eosinophilic esophagitis in patients aged 12 years and older and atopic dermatitis and asthma in some patients as young as age 6 months.

As the roster of approved and off-label indications grows, skin specialists said, pediatricians and other primary care providers should become familiar with the drug – given the increasing likelihood that their patients may be taking the medication.

The U.S. Food and Drug Administration first approved dupilumab in 2017 for eczema and has continued to add new treatment indications, the most recent being for prurigo nodularis, in 2022. Sanofi, which markets the drug with Regeneron, announced in April 2022 that some 430,000 patients worldwide were taking the drug – a figure it hoped to raise by 1.5 million by 2025.
 

A well-tolerated – if expensive – drug

Dupilumab, an interleukin-4 (IL-4) receptor alpha-antagonist biologic, blocks both IL-4 and IL-13 signaling, Marlys Fassett, MD, PhD, associate professor of dermatology at the University of California, San Francisco, told this news organization.

Dr. Fassett said she prescribes the drug off label for chronic idiopathic urticaria, including in older patients, and finds that the side effects in older patients are similar to those in younger people. The medication costs $36,000 per year, although some patients can get it more cheaply.

“Dupixent is a super-safe drug because it doesn’t immunosuppress any other part of the immune system, so you still have good antibacterial, antiviral, and antifungal immunity,” she added. “That makes perfect sense as a biological mechanism, and it’s been found safe in clinical trials.”

Case reports of potential adverse reactions to dupilumab have included ocular surface disease, lichen planus, and rash on the face and neck.

“We’re still learning about complications and are watching patients carefully,” said Marissa J. Perman, MD, section chief of dermatology at Children’s Hospital of Philadelphia.

Many people with atopic dermatitis also have other allergic conditions, such as contact dermatitis, asthma, prurigo nodularis, allergic rhinitis, and seasonal allergies. Each of these conditions has a pathway that depends on IL-4 receptors, Dr. Fassett said.

“It’s amazing how many conditions Dupixent improves. Sometimes we prescribe on-label Dupixent for atopic dermatitis, and inadvertently, the drug also improves that patient’s other, off-label conditions,” Dr. Fassett said. “I think that’s the best evidence that Dupixent works in these off-label cases.”

Lindsay C. Strowd, MD, associate professor of dermatology at Wake Forest University, Winston-Salem, N.C., said she uses off-label dupilumab to treat bullous pemphigoid and intense pruritus of unknown etiology.

“And several times I have treated drug reaction with eosinophilia and systemic symptoms, a rare adverse drug reaction that causes a rash and eosinophilia,” Dr. Strowd added.

Tissa Hata, MD, professor of medicine and clinical service chief at the University of California, San Diego, mainly treats elderly patients. She uses dupilumab to treat bullous pemphigoid and chronic pruritus. “There have been reports of using Dupixent to treat adult alopecia areata, chronic urticaria, localized scleroderma, and even keloids,” she told this news organization.

As a pediatric dermatologist, Dr. Perman treats children with atopic dermatitis as young as 3 months of age. She also uses dupilumab for alopecia areata, graft vs. host disease, and pruritus not otherwise specified.

Conjunctivitis and facial redness are two side effects Dr. Fassett sometimes sees with dupilumab. They occur similarly with all conditions and in all age groups. “We don’t know why they occur, and we don’t always know how to alleviate them,” she said. “So a small number of patients stop using Dupixent because they can’t tolerate those two side effects.

“We’re not worried about infection risk,” Dr. Fassett said. “Your patients may have heard of dupilumab as an immunosuppressant, but its immunosuppression is very focused. You can reassure them that they’re not at increased risk for viral or bacterial infections when they’re on this drug.”

“I don’t think there are any different safety signals to watch for with on-label vs. off-label Dupixent use,” Dr. Strowd added. “In general, the medicine is very safe.”

Dr. Hata said she is impressed with dupilumab’s safety in her elderly patients. All her patients older than 85 years who have taken the drug for bullous pemphigoid have tolerated it well, she said.

“Dupixent seems to be a safe alternative for elderly patients with pruritus because they often cannot tolerate sedating antihistamines due to the risk of falling,” Dr. Hata said. “And UV therapy may be difficult for elderly patients due to problems with transport.”

Although some of Dr. Hata’s elderly patients with atopic dermatitis have discontinued use of the drug after developing conjunctivitis, none taking the drug off label have discontinued it because of side effects, she noted.

“Dupixent manages the condition, but it is not a cure,” Dr. Fassett noted. “Based on the current data, we think it’s safe and effective to take long term, potentially for life.”

Making injections less bothersome

Dupilumab is injected subcutaneously from a single-dose prefilled syringe or a prefilled pen (syringe hidden in an opaque sheath), typically in the thigh, arm, abdomen, or buttocks. According to Sanofi and Regeneron, patients receive dupilumab injections every 2 to 4 weeks in doses based on their age and weight.

“The medication is somewhat viscous, so taking the syringe or pen out of the refrigerator ahead of time to warm it up can make the experience less painful,” Dr. Strowd advised. “For pediatric patients, I sometimes prescribe topical lidocaine applied 30 minutes before injection.”

Dr. Hata suggested icing the skin prior to injecting or distracting the patient by tapping a different area of the skin.

For her pediatric patients, Dr. Perman said she uses “lots of distraction, EMLA cream, and having one person hold the child while a second person injects.”

Clinic and pharmacy staff may show patients how to inject properly, Dr. Fassett added; and the product website provides injection tutorials.
 

Off-label dupixent can be expensive, difficult to obtain

The list price per injection, regardless of dose, is around $1,800. But according to the company’s website, most patients have health insurance or qualify for other assistance, so “very few patients pay the list price.”

Even so, “due to cost and insurance coverage hurdles, obtaining Dupixent for off-label use can be difficult,” Dr. Strowd said.

“In academic medicine, we can obtain drugs for our patients that community doctors may not get approval for,” Dr. Fassett added. “Community doctors can use information in the medical literature and in news articles to press insurance companies to spend money to provide their patients with Dupixent.”

The experts who commented have disclosed no relevant financial relationships.

A version of this article appeared on Medscape.com.

The Diagnosis: Neonatal Lupus Erythematosus

A review of the medical records of the patient’s mother from her first pregnancy revealed positive anti-Ro/SSA (Sjögren syndrome A) (>8.0 U [reference range <1.0 U]) and anti-La/SSB (Sjögren syndrome B) antibodies (>8.0 U [reference range <1.0 U]), which were reconfirmed during her pregnancy with our patient (the second child). The patient’s older brother was diagnosed with neonatal lupus erythematosus (NLE) 2 years prior at 1 month of age; therefore, the mother took hydroxychloroquine during the pregnancy with the second child to help prevent heart block if the child was diagnosed with NLE. Given the family history, positive antibodies in the mother, and clinical presentation, our patient was diagnosed with NLE. He was referred to a pediatric cardiologist and pediatrician to continue the workup of systemic manifestations of NLE and to rule out the presence of congenital heart block. The rash resolved 6 months after the initial presentation, and he did not develop any systemic manifestations of NLE.

Neonatal lupus erythematosus is a rare acquired autoimmune disorder caused by the placental transfer of anti-Ro/SSA and anti-La/SSB antibodies and less commonly anti-U1 ribonucleoprotein antinuclear autoantibodies.^1,2 Approximately 1% to 2% of mothers with these positive antibodies will have infants affected with NLE.² The annual prevalence of NLE in the United States is approximately 1 in 20,000 live births. Mothers of children with NLE most commonly have clinical Sjögren syndrome; however, anti-Ro/SSA and anti-LA/SSB antibodies may be present in 0.1% to 1.5% of healthy women, and 25% to 60% of women with autoimmune disease may be asymptomatic.¹ As demonstrated in our case, when there is a family history of NLE in an infant from an earlier pregnancy, the risk for NLE increases to 17% to 20% in subsequent pregnancies^1,3 and up to 25% in subsequent pregnancies if the initial child was diagnosed with a congenital heart block in the setting of NLE.¹

Neonatal lupus erythematosus classically presents as annular erythematous macules and plaques with central scaling, telangictasia, atrophy, and pigmentary changes. It may start on the scalp and face and spread caudally.^1,2 Patients may develop these lesions after UV exposure, and 80% of infants may not have dermatologic findings at birth. Importantly, 40% to 60% of mothers may be asymptomatic at the time of presentation of their child’s NLE.¹ The diagnosis can be confirmed via antibody testing in the mother and/or infant. If performed, a punch biopsy shows interface dermatitis, vacuolar degeneration, and possible periadnexal lymphocytic infiltrates on histopathology.^1,2

Management of cutaneous NLE includes sun protection (eg, application of sunscreen) and topical corticosteroids. Most dermatologic manifestations of NLE are transient, resolving after clearance of maternal IgG antibodies in 6 to 9 months; however, some telangiectasia, dyspigmentation, and atrophic scarring may persist.^1-3

Neonatal lupus erythematosus also may have hepatobiliary, cardiac, hematologic, and less commonly neurologic manifestations. Hepatobiliary manifestations usually present as hepatomegaly or asymptomatic elevated transaminases or γ-glutamyl transferase.^1,3 Approximately 10% to 20% of infants with NLE may present with transient anemia and thrombocytopenia.¹ Cardiac manifestations are permanent and may require pacemaker implantation.^1,3 The incidence of a congenital heart block in infants with NLE is 15% to 30%.³ Cardiac NLE most commonly injures the conductive tissue, leading to a congenital atrioventricular block. The development of a congenital heart block develops in the 18th to 24th week of gestation. Manifestations of a more advanced condition can include dilation of the ascending aorta and dilated cardiomyopathy.¹ As such, patients need to be followed by a pediatric cardiologist for monitoring and treatment of any cardiac manifestations.

The overall prognosis of infants affected with NLE varies. Cardiac involvement is associated with a poor prognosis, while isolated cutaneous involvement requires little treatment and portends a favorable prognosis. It is critical for dermatologists to recognize NLE to refer patients to appropriate specialists to investigate and further monitor possible extracutaneous manifestations. With an understanding of the increased risk for a congenital heart block and NLE in subsequent pregnancies, mothers with positive anti-Ro/La antibodies should receive timely counseling and screening. In expectant mothers with suspected autoimmune disease, testing for antinuclear antibodies and SSA and SSB antibodies can be considered, as administration of hydroxychloroquine or prenatal systemic corticosteroids has proven to be effective in preventing a congenital heart block.¹ Our patient was followed by pediatric cardiology and was not found to have a congenital heart block.

The differential diagnosis includes other causes of annular erythema in infants, as NLE can mimic several conditions. Tinea corporis may present as scaly annular plaques with central clearing; however, it rarely is encountered fulminantly in neonates.⁴ Erythema multiforme is a mucocutaneous hypersensitivy reaction distinguished by targetoid morphology.⁵ It is an exceedingly rare diagnosis in neonates; the average pediatric age of onset is 5.6 years.⁶ Erythema multiforme often is associated with an infection, most commonly herpes simplex virus,⁵ and mucosal involvement is common.⁶ Urticaria multiforme (also known as acute annular urticaria) is a benign disease that appears between 2 months to 3 years of age with blanchable urticarial plaques that likely are triggered by viral or bacterial infections, antibiotics, or vaccines.⁶ Specific lesions usually will resolve within 24 hours. Annular erythema of infancy is a benign and asymptomatic gyrate erythema that presents as annular plaques with palpable borders that spread centrifugally in patients younger than 1 year. Notably, lesions should periodically fade and may reappear cyclically for months to years. Evaluation for underlying disease usually is negative.⁶

The Diagnosis: Neonatal Lupus Erythematosus

A review of the medical records of the patient’s mother from her first pregnancy revealed positive anti-Ro/SSA (Sjögren syndrome A) (>8.0 U [reference range <1.0 U]) and anti-La/SSB (Sjögren syndrome B) antibodies (>8.0 U [reference range <1.0 U]), which were reconfirmed during her pregnancy with our patient (the second child). The patient’s older brother was diagnosed with neonatal lupus erythematosus (NLE) 2 years prior at 1 month of age; therefore, the mother took hydroxychloroquine during the pregnancy with the second child to help prevent heart block if the child was diagnosed with NLE. Given the family history, positive antibodies in the mother, and clinical presentation, our patient was diagnosed with NLE. He was referred to a pediatric cardiologist and pediatrician to continue the workup of systemic manifestations of NLE and to rule out the presence of congenital heart block. The rash resolved 6 months after the initial presentation, and he did not develop any systemic manifestations of NLE.

Neonatal lupus erythematosus is a rare acquired autoimmune disorder caused by the placental transfer of anti-Ro/SSA and anti-La/SSB antibodies and less commonly anti-U1 ribonucleoprotein antinuclear autoantibodies.^1,2 Approximately 1% to 2% of mothers with these positive antibodies will have infants affected with NLE.² The annual prevalence of NLE in the United States is approximately 1 in 20,000 live births. Mothers of children with NLE most commonly have clinical Sjögren syndrome; however, anti-Ro/SSA and anti-LA/SSB antibodies may be present in 0.1% to 1.5% of healthy women, and 25% to 60% of women with autoimmune disease may be asymptomatic.¹ As demonstrated in our case, when there is a family history of NLE in an infant from an earlier pregnancy, the risk for NLE increases to 17% to 20% in subsequent pregnancies^1,3 and up to 25% in subsequent pregnancies if the initial child was diagnosed with a congenital heart block in the setting of NLE.¹

Neonatal lupus erythematosus classically presents as annular erythematous macules and plaques with central scaling, telangictasia, atrophy, and pigmentary changes. It may start on the scalp and face and spread caudally.^1,2 Patients may develop these lesions after UV exposure, and 80% of infants may not have dermatologic findings at birth. Importantly, 40% to 60% of mothers may be asymptomatic at the time of presentation of their child’s NLE.¹ The diagnosis can be confirmed via antibody testing in the mother and/or infant. If performed, a punch biopsy shows interface dermatitis, vacuolar degeneration, and possible periadnexal lymphocytic infiltrates on histopathology.^1,2

Management of cutaneous NLE includes sun protection (eg, application of sunscreen) and topical corticosteroids. Most dermatologic manifestations of NLE are transient, resolving after clearance of maternal IgG antibodies in 6 to 9 months; however, some telangiectasia, dyspigmentation, and atrophic scarring may persist.^1-3

Neonatal lupus erythematosus also may have hepatobiliary, cardiac, hematologic, and less commonly neurologic manifestations. Hepatobiliary manifestations usually present as hepatomegaly or asymptomatic elevated transaminases or γ-glutamyl transferase.^1,3 Approximately 10% to 20% of infants with NLE may present with transient anemia and thrombocytopenia.¹ Cardiac manifestations are permanent and may require pacemaker implantation.^1,3 The incidence of a congenital heart block in infants with NLE is 15% to 30%.³ Cardiac NLE most commonly injures the conductive tissue, leading to a congenital atrioventricular block. The development of a congenital heart block develops in the 18th to 24th week of gestation. Manifestations of a more advanced condition can include dilation of the ascending aorta and dilated cardiomyopathy.¹ As such, patients need to be followed by a pediatric cardiologist for monitoring and treatment of any cardiac manifestations.

The overall prognosis of infants affected with NLE varies. Cardiac involvement is associated with a poor prognosis, while isolated cutaneous involvement requires little treatment and portends a favorable prognosis. It is critical for dermatologists to recognize NLE to refer patients to appropriate specialists to investigate and further monitor possible extracutaneous manifestations. With an understanding of the increased risk for a congenital heart block and NLE in subsequent pregnancies, mothers with positive anti-Ro/La antibodies should receive timely counseling and screening. In expectant mothers with suspected autoimmune disease, testing for antinuclear antibodies and SSA and SSB antibodies can be considered, as administration of hydroxychloroquine or prenatal systemic corticosteroids has proven to be effective in preventing a congenital heart block.¹ Our patient was followed by pediatric cardiology and was not found to have a congenital heart block.

The differential diagnosis includes other causes of annular erythema in infants, as NLE can mimic several conditions. Tinea corporis may present as scaly annular plaques with central clearing; however, it rarely is encountered fulminantly in neonates.⁴ Erythema multiforme is a mucocutaneous hypersensitivy reaction distinguished by targetoid morphology.⁵ It is an exceedingly rare diagnosis in neonates; the average pediatric age of onset is 5.6 years.⁶ Erythema multiforme often is associated with an infection, most commonly herpes simplex virus,⁵ and mucosal involvement is common.⁶ Urticaria multiforme (also known as acute annular urticaria) is a benign disease that appears between 2 months to 3 years of age with blanchable urticarial plaques that likely are triggered by viral or bacterial infections, antibiotics, or vaccines.⁶ Specific lesions usually will resolve within 24 hours. Annular erythema of infancy is a benign and asymptomatic gyrate erythema that presents as annular plaques with palpable borders that spread centrifugally in patients younger than 1 year. Notably, lesions should periodically fade and may reappear cyclically for months to years. Evaluation for underlying disease usually is negative.⁶

The Diagnosis: Neonatal Lupus Erythematosus

A review of the medical records of the patient’s mother from her first pregnancy revealed positive anti-Ro/SSA (Sjögren syndrome A) (>8.0 U [reference range <1.0 U]) and anti-La/SSB (Sjögren syndrome B) antibodies (>8.0 U [reference range <1.0 U]), which were reconfirmed during her pregnancy with our patient (the second child). The patient’s older brother was diagnosed with neonatal lupus erythematosus (NLE) 2 years prior at 1 month of age; therefore, the mother took hydroxychloroquine during the pregnancy with the second child to help prevent heart block if the child was diagnosed with NLE. Given the family history, positive antibodies in the mother, and clinical presentation, our patient was diagnosed with NLE. He was referred to a pediatric cardiologist and pediatrician to continue the workup of systemic manifestations of NLE and to rule out the presence of congenital heart block. The rash resolved 6 months after the initial presentation, and he did not develop any systemic manifestations of NLE.

Neonatal lupus erythematosus is a rare acquired autoimmune disorder caused by the placental transfer of anti-Ro/SSA and anti-La/SSB antibodies and less commonly anti-U1 ribonucleoprotein antinuclear autoantibodies.^1,2 Approximately 1% to 2% of mothers with these positive antibodies will have infants affected with NLE.² The annual prevalence of NLE in the United States is approximately 1 in 20,000 live births. Mothers of children with NLE most commonly have clinical Sjögren syndrome; however, anti-Ro/SSA and anti-LA/SSB antibodies may be present in 0.1% to 1.5% of healthy women, and 25% to 60% of women with autoimmune disease may be asymptomatic.¹ As demonstrated in our case, when there is a family history of NLE in an infant from an earlier pregnancy, the risk for NLE increases to 17% to 20% in subsequent pregnancies^1,3 and up to 25% in subsequent pregnancies if the initial child was diagnosed with a congenital heart block in the setting of NLE.¹

Neonatal lupus erythematosus classically presents as annular erythematous macules and plaques with central scaling, telangictasia, atrophy, and pigmentary changes. It may start on the scalp and face and spread caudally.^1,2 Patients may develop these lesions after UV exposure, and 80% of infants may not have dermatologic findings at birth. Importantly, 40% to 60% of mothers may be asymptomatic at the time of presentation of their child’s NLE.¹ The diagnosis can be confirmed via antibody testing in the mother and/or infant. If performed, a punch biopsy shows interface dermatitis, vacuolar degeneration, and possible periadnexal lymphocytic infiltrates on histopathology.^1,2

Management of cutaneous NLE includes sun protection (eg, application of sunscreen) and topical corticosteroids. Most dermatologic manifestations of NLE are transient, resolving after clearance of maternal IgG antibodies in 6 to 9 months; however, some telangiectasia, dyspigmentation, and atrophic scarring may persist.^1-3

Neonatal lupus erythematosus also may have hepatobiliary, cardiac, hematologic, and less commonly neurologic manifestations. Hepatobiliary manifestations usually present as hepatomegaly or asymptomatic elevated transaminases or γ-glutamyl transferase.^1,3 Approximately 10% to 20% of infants with NLE may present with transient anemia and thrombocytopenia.¹ Cardiac manifestations are permanent and may require pacemaker implantation.^1,3 The incidence of a congenital heart block in infants with NLE is 15% to 30%.³ Cardiac NLE most commonly injures the conductive tissue, leading to a congenital atrioventricular block. The development of a congenital heart block develops in the 18th to 24th week of gestation. Manifestations of a more advanced condition can include dilation of the ascending aorta and dilated cardiomyopathy.¹ As such, patients need to be followed by a pediatric cardiologist for monitoring and treatment of any cardiac manifestations.

The overall prognosis of infants affected with NLE varies. Cardiac involvement is associated with a poor prognosis, while isolated cutaneous involvement requires little treatment and portends a favorable prognosis. It is critical for dermatologists to recognize NLE to refer patients to appropriate specialists to investigate and further monitor possible extracutaneous manifestations. With an understanding of the increased risk for a congenital heart block and NLE in subsequent pregnancies, mothers with positive anti-Ro/La antibodies should receive timely counseling and screening. In expectant mothers with suspected autoimmune disease, testing for antinuclear antibodies and SSA and SSB antibodies can be considered, as administration of hydroxychloroquine or prenatal systemic corticosteroids has proven to be effective in preventing a congenital heart block.¹ Our patient was followed by pediatric cardiology and was not found to have a congenital heart block.

The differential diagnosis includes other causes of annular erythema in infants, as NLE can mimic several conditions. Tinea corporis may present as scaly annular plaques with central clearing; however, it rarely is encountered fulminantly in neonates.⁴ Erythema multiforme is a mucocutaneous hypersensitivy reaction distinguished by targetoid morphology.⁵ It is an exceedingly rare diagnosis in neonates; the average pediatric age of onset is 5.6 years.⁶ Erythema multiforme often is associated with an infection, most commonly herpes simplex virus,⁵ and mucosal involvement is common.⁶ Urticaria multiforme (also known as acute annular urticaria) is a benign disease that appears between 2 months to 3 years of age with blanchable urticarial plaques that likely are triggered by viral or bacterial infections, antibiotics, or vaccines.⁶ Specific lesions usually will resolve within 24 hours. Annular erythema of infancy is a benign and asymptomatic gyrate erythema that presents as annular plaques with palpable borders that spread centrifugally in patients younger than 1 year. Notably, lesions should periodically fade and may reappear cyclically for months to years. Evaluation for underlying disease usually is negative.⁶

The European Medicines Agency has validated the marketing authorization application for delgocitinib cream, for the treatment of adults with chronic moderate to severe hand eczema, which marks the beginning of the review process for the treatment by the EMA’s Committee for Medicinal Products for Human Use.

Delgocitinib is an investigational topical pan–Janus kinase inhibitor that inhibits activation of the JAK-STAT pathway.

The development follows results reported from two phase 3 clinical trials known as DELTA 1 and DELTA 2, which evaluated the safety and efficacy of delgocitinib cream applications twice per day compared with a vehicle cream in adults with mild to severe chronic hand eczema. Results of DELTA 1 were presented at the 2023 annual meeting of the American Academy of Dermatology. A multisite, open-label extension trial known as DELTA 3 is still in progress.

According to a press release from LEO Pharma, which is developing the product, the efficacy and safety of delgocitinib cream have not been evaluated by any regulatory authority. In 2020, the drug was granted fast-track designation by the Food and Drug Administration for the potential treatment of adults with moderate to severe chronic hand eczema. There are currently no treatment options available in the United States specifically approved for treating the condition.



 

The European Medicines Agency has validated the marketing authorization application for delgocitinib cream, for the treatment of adults with chronic moderate to severe hand eczema, which marks the beginning of the review process for the treatment by the EMA’s Committee for Medicinal Products for Human Use.

Delgocitinib is an investigational topical pan–Janus kinase inhibitor that inhibits activation of the JAK-STAT pathway.

The development follows results reported from two phase 3 clinical trials known as DELTA 1 and DELTA 2, which evaluated the safety and efficacy of delgocitinib cream applications twice per day compared with a vehicle cream in adults with mild to severe chronic hand eczema. Results of DELTA 1 were presented at the 2023 annual meeting of the American Academy of Dermatology. A multisite, open-label extension trial known as DELTA 3 is still in progress.

According to a press release from LEO Pharma, which is developing the product, the efficacy and safety of delgocitinib cream have not been evaluated by any regulatory authority. In 2020, the drug was granted fast-track designation by the Food and Drug Administration for the potential treatment of adults with moderate to severe chronic hand eczema. There are currently no treatment options available in the United States specifically approved for treating the condition.



 

The European Medicines Agency has validated the marketing authorization application for delgocitinib cream, for the treatment of adults with chronic moderate to severe hand eczema, which marks the beginning of the review process for the treatment by the EMA’s Committee for Medicinal Products for Human Use.

Delgocitinib is an investigational topical pan–Janus kinase inhibitor that inhibits activation of the JAK-STAT pathway.

The development follows results reported from two phase 3 clinical trials known as DELTA 1 and DELTA 2, which evaluated the safety and efficacy of delgocitinib cream applications twice per day compared with a vehicle cream in adults with mild to severe chronic hand eczema. Results of DELTA 1 were presented at the 2023 annual meeting of the American Academy of Dermatology. A multisite, open-label extension trial known as DELTA 3 is still in progress.

According to a press release from LEO Pharma, which is developing the product, the efficacy and safety of delgocitinib cream have not been evaluated by any regulatory authority. In 2020, the drug was granted fast-track designation by the Food and Drug Administration for the potential treatment of adults with moderate to severe chronic hand eczema. There are currently no treatment options available in the United States specifically approved for treating the condition.



 

Among patients with female pattern hair loss taking low-dose oral minoxidil (LDOM) for at least 4 months, minimal changes from baseline were observed in systolic blood pressure, diastolic blood pressure, and heart rate, results from a small retrospective analysis showed.

“Additionally, few patients experienced hair loss progression while slightly over a third experienced hair regrowth,” the study’s first author, Reese Imhof, MD, a third-year resident in the department of dermatology at Mayo Clinic, Rochester, Minn., said in an interview. The results were published online in JAAD International.

At low doses, oral minoxidil, approved as an antihypertensive over 40 years ago, has become an increasingly popular treatment for hair loss, particularly since an article about its use for hair loss was published in the New York Times in August 2022. (Oral minoxidil is not approved for treating alopecia, and is used off label for this purpose.)

To evaluate the effects of LDOM in female patients with female pattern hair loss, Dr. Imhof, along with colleagues Beija Villalpando, MD, of the department of medicine and Rochelle R. Torgerson, MD, PhD, of the department of dermatology at the Mayo Clinic, reviewed the records of 25 adult women who were evaluated for female pattern hair loss at the Mayo Clinic over a 5-year period that ended on Nov. 27, 2022. Previous studies have looked at the cardiovascular effects of treatment with oral minoxidil and impact on BP in men, but “few studies have reported on female patients receiving LDOM as monotherapy for female pattern hair loss,” the authors noted.

The mean age of the women in their study was 61 years, and they took LDOM for a mean of 6.2 months. Slightly more than half (52%) took a dose of 1.25 mg daily, while 40% took 2.5 mg daily and 8% took 0.625 mg daily.

Of the 25 patients, 10 (40%) had previously tried topical minoxidil but had discontinued it because of local side effects or challenges with adherence. Also, three patients (12%) had previously tried finasteride and spironolactone but discontinued those medications because of adverse side effects.

The researchers noted disease improvement and hair regrowth was observed in nine patients who were treated with LDOM (36%), while three patients (12%) had “unaltered disease progression.” Adverse side effects observed in the cohort included four patients with facial hypertrichosis (16%) and one patient with fluid retention/lower limb edema (4%).

The patients who developed hypertrichosis did not discontinue LDOM, but the patient who developed edema did stop treatment.

At baseline, systolic BP (SBP) ranged from 107-161 mm Hg, diastolic BP (DBP) ranged from 58-88 mm Hg, and heart rate ranged from 54-114 beats per minute. Post treatment, SBP ranged from 102-152 mm Hg, DBP ranged from 63-90 mm Hg, and heart rate ranged from 56 to 105 bpm. “It was surprising how little ambulatory blood pressure and heart rate changed after an average of 6 months of treatment,” Dr. Imhof said in an interview. “On average, SBP decreased by 2.8 mm HG while DBP decreased by 1.4 mm Hg. Heart rate increased an average of 4.4 beats per minute.”

He acknowledged certain limitations of the study, including its small sample size and lack of inclusion of patients who were being treated for hypertension with concomitant antihypertensive medications. “Some unique aspects of our study are that we focused on women, and we had a slightly older cohort than prior studies (61 years old on average) as well as exposure to higher doses of LDOM, with most patients on either 1.25 mg daily or 2.5 mg daily,” Dr. Imhof said.

The researchers reported having no relevant disclosures, and there was no funding source for the study.

Among patients with female pattern hair loss taking low-dose oral minoxidil (LDOM) for at least 4 months, minimal changes from baseline were observed in systolic blood pressure, diastolic blood pressure, and heart rate, results from a small retrospective analysis showed.

“Additionally, few patients experienced hair loss progression while slightly over a third experienced hair regrowth,” the study’s first author, Reese Imhof, MD, a third-year resident in the department of dermatology at Mayo Clinic, Rochester, Minn., said in an interview. The results were published online in JAAD International.

At low doses, oral minoxidil, approved as an antihypertensive over 40 years ago, has become an increasingly popular treatment for hair loss, particularly since an article about its use for hair loss was published in the New York Times in August 2022. (Oral minoxidil is not approved for treating alopecia, and is used off label for this purpose.)

To evaluate the effects of LDOM in female patients with female pattern hair loss, Dr. Imhof, along with colleagues Beija Villalpando, MD, of the department of medicine and Rochelle R. Torgerson, MD, PhD, of the department of dermatology at the Mayo Clinic, reviewed the records of 25 adult women who were evaluated for female pattern hair loss at the Mayo Clinic over a 5-year period that ended on Nov. 27, 2022. Previous studies have looked at the cardiovascular effects of treatment with oral minoxidil and impact on BP in men, but “few studies have reported on female patients receiving LDOM as monotherapy for female pattern hair loss,” the authors noted.

The mean age of the women in their study was 61 years, and they took LDOM for a mean of 6.2 months. Slightly more than half (52%) took a dose of 1.25 mg daily, while 40% took 2.5 mg daily and 8% took 0.625 mg daily.

Of the 25 patients, 10 (40%) had previously tried topical minoxidil but had discontinued it because of local side effects or challenges with adherence. Also, three patients (12%) had previously tried finasteride and spironolactone but discontinued those medications because of adverse side effects.

The researchers noted disease improvement and hair regrowth was observed in nine patients who were treated with LDOM (36%), while three patients (12%) had “unaltered disease progression.” Adverse side effects observed in the cohort included four patients with facial hypertrichosis (16%) and one patient with fluid retention/lower limb edema (4%).

The patients who developed hypertrichosis did not discontinue LDOM, but the patient who developed edema did stop treatment.

At baseline, systolic BP (SBP) ranged from 107-161 mm Hg, diastolic BP (DBP) ranged from 58-88 mm Hg, and heart rate ranged from 54-114 beats per minute. Post treatment, SBP ranged from 102-152 mm Hg, DBP ranged from 63-90 mm Hg, and heart rate ranged from 56 to 105 bpm. “It was surprising how little ambulatory blood pressure and heart rate changed after an average of 6 months of treatment,” Dr. Imhof said in an interview. “On average, SBP decreased by 2.8 mm HG while DBP decreased by 1.4 mm Hg. Heart rate increased an average of 4.4 beats per minute.”

He acknowledged certain limitations of the study, including its small sample size and lack of inclusion of patients who were being treated for hypertension with concomitant antihypertensive medications. “Some unique aspects of our study are that we focused on women, and we had a slightly older cohort than prior studies (61 years old on average) as well as exposure to higher doses of LDOM, with most patients on either 1.25 mg daily or 2.5 mg daily,” Dr. Imhof said.

The researchers reported having no relevant disclosures, and there was no funding source for the study.

Among patients with female pattern hair loss taking low-dose oral minoxidil (LDOM) for at least 4 months, minimal changes from baseline were observed in systolic blood pressure, diastolic blood pressure, and heart rate, results from a small retrospective analysis showed.

“Additionally, few patients experienced hair loss progression while slightly over a third experienced hair regrowth,” the study’s first author, Reese Imhof, MD, a third-year resident in the department of dermatology at Mayo Clinic, Rochester, Minn., said in an interview. The results were published online in JAAD International.

At low doses, oral minoxidil, approved as an antihypertensive over 40 years ago, has become an increasingly popular treatment for hair loss, particularly since an article about its use for hair loss was published in the New York Times in August 2022. (Oral minoxidil is not approved for treating alopecia, and is used off label for this purpose.)

To evaluate the effects of LDOM in female patients with female pattern hair loss, Dr. Imhof, along with colleagues Beija Villalpando, MD, of the department of medicine and Rochelle R. Torgerson, MD, PhD, of the department of dermatology at the Mayo Clinic, reviewed the records of 25 adult women who were evaluated for female pattern hair loss at the Mayo Clinic over a 5-year period that ended on Nov. 27, 2022. Previous studies have looked at the cardiovascular effects of treatment with oral minoxidil and impact on BP in men, but “few studies have reported on female patients receiving LDOM as monotherapy for female pattern hair loss,” the authors noted.

The mean age of the women in their study was 61 years, and they took LDOM for a mean of 6.2 months. Slightly more than half (52%) took a dose of 1.25 mg daily, while 40% took 2.5 mg daily and 8% took 0.625 mg daily.

Of the 25 patients, 10 (40%) had previously tried topical minoxidil but had discontinued it because of local side effects or challenges with adherence. Also, three patients (12%) had previously tried finasteride and spironolactone but discontinued those medications because of adverse side effects.

The researchers noted disease improvement and hair regrowth was observed in nine patients who were treated with LDOM (36%), while three patients (12%) had “unaltered disease progression.” Adverse side effects observed in the cohort included four patients with facial hypertrichosis (16%) and one patient with fluid retention/lower limb edema (4%).

The patients who developed hypertrichosis did not discontinue LDOM, but the patient who developed edema did stop treatment.

At baseline, systolic BP (SBP) ranged from 107-161 mm Hg, diastolic BP (DBP) ranged from 58-88 mm Hg, and heart rate ranged from 54-114 beats per minute. Post treatment, SBP ranged from 102-152 mm Hg, DBP ranged from 63-90 mm Hg, and heart rate ranged from 56 to 105 bpm. “It was surprising how little ambulatory blood pressure and heart rate changed after an average of 6 months of treatment,” Dr. Imhof said in an interview. “On average, SBP decreased by 2.8 mm HG while DBP decreased by 1.4 mm Hg. Heart rate increased an average of 4.4 beats per minute.”

He acknowledged certain limitations of the study, including its small sample size and lack of inclusion of patients who were being treated for hypertension with concomitant antihypertensive medications. “Some unique aspects of our study are that we focused on women, and we had a slightly older cohort than prior studies (61 years old on average) as well as exposure to higher doses of LDOM, with most patients on either 1.25 mg daily or 2.5 mg daily,” Dr. Imhof said.

The researchers reported having no relevant disclosures, and there was no funding source for the study.

At the week follow-up, the lesions were unchanged and the swelling on the left lateral eyebrow was worsening. A biopsy of the yellow lesion on the back and one of the scaly papules on the abdomen was performed. A fungal and bacterial cultures were also ordered.

He was referred to ophthalmology for evaluation of the eyelid swelling and an ultrasound was requested.

The skin biopsy showed a clonal proliferation of reniform histiocytes with eosinophils within the dermis. The cells were positive for S100, CD207 (langerin), and CD1a and negative for pancytokeratin and Melan-A, supportive of the diagnosis of Langerhans cell histiocytosis (LCH).
 

Diagnosis

The patient was admitted to the hospital, where a skeletal survey was performed, which showed an asymmetric lucency involving the left frontal calvarium extending to the superior lateral orbital rim. The brain MRI demonstrated a destructive avidly enhancing soft-tissue process which involved the superior left orbital rim likely with some degree of intracranial extension. This lesion exerts mass effect upon surrounding structures to the left ocular globe. With the skin and skeletal findings, the patient was diagnosed with LCH. His blood count was significant for thrombocytopenia. His liver and kidney function were normal. His electrolytes were also with in normal range. He was started on chemotherapy with vinblastine and systemic corticosteroids with resolution of the rash and decrease on the size of the lesion on the orbit within a few weeks.

Infantile LCH is a rare neoplastic disorder of hematopoietic myeloid precursor cells caused by activating mutations in the mitogen-activated protein kinase (MAPK) pathway, particularly BRAF-V600E mutation. White male children are mostly affected, with a peak incidence of 1-3 years of age. Nine out of 10 children with cutaneous involvement also have multisystemic disease, such as the case of our patient. LCH is classified as single or multisystem organ disease. Two-thirds of the cases present with single system involvement. Organs most commonly affected include the bone (the skull being the most commonly affected), skin, and high-risk organs like the liver, spleen, and bone marrow, and less commonly the lungs, lymph nodes, and central nervous system. Some patients can present with fever, lethargy, and weight loss. None were noted in our patient.

Skin findings of LCH can have multiple morphologies and presentations and often described as a big mimicker. In young infants like our patient, the seborrheic dermatitis–mimicking type is often seen. In other cases, the skin lesions can appear eczematous, petechial, with scabbing, crusting, or purpura. Xanthoma-like lesions, like that one our patient had in the back, have also been described. Resistant diaper dermatitis and cradle cap should prompt the clinician to think about LCH. Lesions can be so varied that can present with hypopigmentation (vitiligo like), hyperpigmentation, varicella-like papulo-pustules, and red blue nodules within others. Oral mucosa and nail involvement can also occur.

Bone involvement can present as soft-tissue mass with swelling and pain as it occur in our patient.

Endocrinopathies have been described in patients with LCH including diabetes insipidus, growth hormone deficiency, and less likely thyroid disease.
 

Multidisciplinary care

The diagnosis of LCH in infants necessitates a combination of clinical, radiological, and histopathologic findings. In infants, cutaneous involvement is a frequent initial presentation, with characteristic lesions that are often misdiagnosed as other dermatologic conditions. Timely recognition of these lesions and appropriate skin biopsies for histological examination are essential steps in achieving an accurate diagnosis.

Radiological imaging, including x-rays, CT, and MRI, plays a crucial role in assessing the extent of involvement.

The management of LCH in infants requires a well-coordinated multidisciplinary approach involving pediatric oncologists, dermatologists, radiologists, orthopedic surgeons, and other relevant specialists. Treatment strategies vary depending on the extent of disease involvement and the presence of risk factors. In localized cases, observation with close monitoring may be considered, as some cases of LCH in infants may undergo spontaneous regression. However, cases with severe symptoms, extensive organ involvement, or high-risk features may require systemic therapies.

Chemotherapy agents, including vinblastine and prednisone have been utilized in the treatment of infantile LCH with varying success. The selection of treatment regimens should be tailored to each individual case, considering disease severity, potential toxicities, and long-term effects. In cases of bone lesions causing significant deformities or functional impairment, surgical intervention may be necessary. Skin only disease can be treated with topical corticosteroids.
 

Prognosis

Survival rates in patients with single-organ involvement without risk-organ involvement is close to 100% and with risk-organ involvement of 98% at 5 years.

Long-term follow-up is essential for infants diagnosed with LCH, as recurrence and late effects can occur even after successful treatment. Continued monitoring allows for the timely detection of relapses or the development of secondary complications.

Infants thought to have common skin conditions like eczema, seborrheic dermatitis, or diaper dermatitis not responding to treatment should be referred to pediatric dermatology for evaluation to rule out the possibility of LCH.

Dr. Matiz is a pediatric dermatologist at Southern California Permanente Medical Group, San Diego.

References

Krooks J et al. J Am Acad Dermatol. 2018 Jun;78(6):1035-44.

Krooks J et al. J Am Acad Dermatol. 2018 Jun;78(6):1047-56.

Leung AKC et al. World J Pediatr. 2019 Dec;15(6):536-45.

At the week follow-up, the lesions were unchanged and the swelling on the left lateral eyebrow was worsening. A biopsy of the yellow lesion on the back and one of the scaly papules on the abdomen was performed. A fungal and bacterial cultures were also ordered.

He was referred to ophthalmology for evaluation of the eyelid swelling and an ultrasound was requested.

The skin biopsy showed a clonal proliferation of reniform histiocytes with eosinophils within the dermis. The cells were positive for S100, CD207 (langerin), and CD1a and negative for pancytokeratin and Melan-A, supportive of the diagnosis of Langerhans cell histiocytosis (LCH).
 

Diagnosis

The patient was admitted to the hospital, where a skeletal survey was performed, which showed an asymmetric lucency involving the left frontal calvarium extending to the superior lateral orbital rim. The brain MRI demonstrated a destructive avidly enhancing soft-tissue process which involved the superior left orbital rim likely with some degree of intracranial extension. This lesion exerts mass effect upon surrounding structures to the left ocular globe. With the skin and skeletal findings, the patient was diagnosed with LCH. His blood count was significant for thrombocytopenia. His liver and kidney function were normal. His electrolytes were also with in normal range. He was started on chemotherapy with vinblastine and systemic corticosteroids with resolution of the rash and decrease on the size of the lesion on the orbit within a few weeks.

Infantile LCH is a rare neoplastic disorder of hematopoietic myeloid precursor cells caused by activating mutations in the mitogen-activated protein kinase (MAPK) pathway, particularly BRAF-V600E mutation. White male children are mostly affected, with a peak incidence of 1-3 years of age. Nine out of 10 children with cutaneous involvement also have multisystemic disease, such as the case of our patient. LCH is classified as single or multisystem organ disease. Two-thirds of the cases present with single system involvement. Organs most commonly affected include the bone (the skull being the most commonly affected), skin, and high-risk organs like the liver, spleen, and bone marrow, and less commonly the lungs, lymph nodes, and central nervous system. Some patients can present with fever, lethargy, and weight loss. None were noted in our patient.

Skin findings of LCH can have multiple morphologies and presentations and often described as a big mimicker. In young infants like our patient, the seborrheic dermatitis–mimicking type is often seen. In other cases, the skin lesions can appear eczematous, petechial, with scabbing, crusting, or purpura. Xanthoma-like lesions, like that one our patient had in the back, have also been described. Resistant diaper dermatitis and cradle cap should prompt the clinician to think about LCH. Lesions can be so varied that can present with hypopigmentation (vitiligo like), hyperpigmentation, varicella-like papulo-pustules, and red blue nodules within others. Oral mucosa and nail involvement can also occur.

Bone involvement can present as soft-tissue mass with swelling and pain as it occur in our patient.

Endocrinopathies have been described in patients with LCH including diabetes insipidus, growth hormone deficiency, and less likely thyroid disease.
 

Multidisciplinary care

The diagnosis of LCH in infants necessitates a combination of clinical, radiological, and histopathologic findings. In infants, cutaneous involvement is a frequent initial presentation, with characteristic lesions that are often misdiagnosed as other dermatologic conditions. Timely recognition of these lesions and appropriate skin biopsies for histological examination are essential steps in achieving an accurate diagnosis.

Radiological imaging, including x-rays, CT, and MRI, plays a crucial role in assessing the extent of involvement.

The management of LCH in infants requires a well-coordinated multidisciplinary approach involving pediatric oncologists, dermatologists, radiologists, orthopedic surgeons, and other relevant specialists. Treatment strategies vary depending on the extent of disease involvement and the presence of risk factors. In localized cases, observation with close monitoring may be considered, as some cases of LCH in infants may undergo spontaneous regression. However, cases with severe symptoms, extensive organ involvement, or high-risk features may require systemic therapies.

Chemotherapy agents, including vinblastine and prednisone have been utilized in the treatment of infantile LCH with varying success. The selection of treatment regimens should be tailored to each individual case, considering disease severity, potential toxicities, and long-term effects. In cases of bone lesions causing significant deformities or functional impairment, surgical intervention may be necessary. Skin only disease can be treated with topical corticosteroids.
 

Prognosis

Survival rates in patients with single-organ involvement without risk-organ involvement is close to 100% and with risk-organ involvement of 98% at 5 years.

Long-term follow-up is essential for infants diagnosed with LCH, as recurrence and late effects can occur even after successful treatment. Continued monitoring allows for the timely detection of relapses or the development of secondary complications.

Infants thought to have common skin conditions like eczema, seborrheic dermatitis, or diaper dermatitis not responding to treatment should be referred to pediatric dermatology for evaluation to rule out the possibility of LCH.

Dr. Matiz is a pediatric dermatologist at Southern California Permanente Medical Group, San Diego.

References

Krooks J et al. J Am Acad Dermatol. 2018 Jun;78(6):1035-44.

Krooks J et al. J Am Acad Dermatol. 2018 Jun;78(6):1047-56.

Leung AKC et al. World J Pediatr. 2019 Dec;15(6):536-45.

At the week follow-up, the lesions were unchanged and the swelling on the left lateral eyebrow was worsening. A biopsy of the yellow lesion on the back and one of the scaly papules on the abdomen was performed. A fungal and bacterial cultures were also ordered.

He was referred to ophthalmology for evaluation of the eyelid swelling and an ultrasound was requested.

The skin biopsy showed a clonal proliferation of reniform histiocytes with eosinophils within the dermis. The cells were positive for S100, CD207 (langerin), and CD1a and negative for pancytokeratin and Melan-A, supportive of the diagnosis of Langerhans cell histiocytosis (LCH).
 

Diagnosis

The patient was admitted to the hospital, where a skeletal survey was performed, which showed an asymmetric lucency involving the left frontal calvarium extending to the superior lateral orbital rim. The brain MRI demonstrated a destructive avidly enhancing soft-tissue process which involved the superior left orbital rim likely with some degree of intracranial extension. This lesion exerts mass effect upon surrounding structures to the left ocular globe. With the skin and skeletal findings, the patient was diagnosed with LCH. His blood count was significant for thrombocytopenia. His liver and kidney function were normal. His electrolytes were also with in normal range. He was started on chemotherapy with vinblastine and systemic corticosteroids with resolution of the rash and decrease on the size of the lesion on the orbit within a few weeks.

Infantile LCH is a rare neoplastic disorder of hematopoietic myeloid precursor cells caused by activating mutations in the mitogen-activated protein kinase (MAPK) pathway, particularly BRAF-V600E mutation. White male children are mostly affected, with a peak incidence of 1-3 years of age. Nine out of 10 children with cutaneous involvement also have multisystemic disease, such as the case of our patient. LCH is classified as single or multisystem organ disease. Two-thirds of the cases present with single system involvement. Organs most commonly affected include the bone (the skull being the most commonly affected), skin, and high-risk organs like the liver, spleen, and bone marrow, and less commonly the lungs, lymph nodes, and central nervous system. Some patients can present with fever, lethargy, and weight loss. None were noted in our patient.

Skin findings of LCH can have multiple morphologies and presentations and often described as a big mimicker. In young infants like our patient, the seborrheic dermatitis–mimicking type is often seen. In other cases, the skin lesions can appear eczematous, petechial, with scabbing, crusting, or purpura. Xanthoma-like lesions, like that one our patient had in the back, have also been described. Resistant diaper dermatitis and cradle cap should prompt the clinician to think about LCH. Lesions can be so varied that can present with hypopigmentation (vitiligo like), hyperpigmentation, varicella-like papulo-pustules, and red blue nodules within others. Oral mucosa and nail involvement can also occur.

Bone involvement can present as soft-tissue mass with swelling and pain as it occur in our patient.

Endocrinopathies have been described in patients with LCH including diabetes insipidus, growth hormone deficiency, and less likely thyroid disease.
 

Multidisciplinary care

The diagnosis of LCH in infants necessitates a combination of clinical, radiological, and histopathologic findings. In infants, cutaneous involvement is a frequent initial presentation, with characteristic lesions that are often misdiagnosed as other dermatologic conditions. Timely recognition of these lesions and appropriate skin biopsies for histological examination are essential steps in achieving an accurate diagnosis.

Radiological imaging, including x-rays, CT, and MRI, plays a crucial role in assessing the extent of involvement.

The management of LCH in infants requires a well-coordinated multidisciplinary approach involving pediatric oncologists, dermatologists, radiologists, orthopedic surgeons, and other relevant specialists. Treatment strategies vary depending on the extent of disease involvement and the presence of risk factors. In localized cases, observation with close monitoring may be considered, as some cases of LCH in infants may undergo spontaneous regression. However, cases with severe symptoms, extensive organ involvement, or high-risk features may require systemic therapies.

Chemotherapy agents, including vinblastine and prednisone have been utilized in the treatment of infantile LCH with varying success. The selection of treatment regimens should be tailored to each individual case, considering disease severity, potential toxicities, and long-term effects. In cases of bone lesions causing significant deformities or functional impairment, surgical intervention may be necessary. Skin only disease can be treated with topical corticosteroids.
 

Prognosis

Survival rates in patients with single-organ involvement without risk-organ involvement is close to 100% and with risk-organ involvement of 98% at 5 years.

Long-term follow-up is essential for infants diagnosed with LCH, as recurrence and late effects can occur even after successful treatment. Continued monitoring allows for the timely detection of relapses or the development of secondary complications.

Infants thought to have common skin conditions like eczema, seborrheic dermatitis, or diaper dermatitis not responding to treatment should be referred to pediatric dermatology for evaluation to rule out the possibility of LCH.

Dr. Matiz is a pediatric dermatologist at Southern California Permanente Medical Group, San Diego.

References

Krooks J et al. J Am Acad Dermatol. 2018 Jun;78(6):1035-44.

Krooks J et al. J Am Acad Dermatol. 2018 Jun;78(6):1047-56.

Leung AKC et al. World J Pediatr. 2019 Dec;15(6):536-45.

While oral antibiotics remained the most prescribed systemic treatment for women with acne, spironolactone use continued to grow and became nearly as common as oral antibiotics, results from an analysis of prescribing trends from 2017 through 2020 showed.

Notably, isotretinoin prescribing among men and women decreased slightly during the study period, “which may reflect ongoing administrative burdens associated with iPLEDGE,” study author John S. Barbieri, MD, MBA, of the department of dermatology, at Brigham and Women’s Hospital, Boston, told this news organization.

For the cross-sectional study, which was published online as a research letter in JAMA Dermatology, Dr. Barbieri drew from the Truven Health MarketScan Commercial Claims Database from Jan. 1, 2017, to Dec. 31, 2020, to identify individuals with an encounter for acne, prescriptions for oral tetracycline antibiotics (doxycycline, minocycline), other commonly prescribed oral antibiotics (trimethoprim-sulfamethoxazole, amoxicillin, cephalexin), spironolactone, and isotretinoin. Only drug courses greater than 28 days were included in the analysis, and Dr. Barbieri stratified them according to clinician type (dermatologist, nondermatology physician, and nurse-practitioner or physician assistant). To normalize prescribing rates (to address possible changes in the number of patients treated for acne over time), the number of treatment courses prescribed each year was standardized to the number of encounters for acne with that clinician type during the same calendar year.

The study period included a mean of 1.9 million acne encounters per year.

Dr. Barbieri found that dermatologists prescribed more oral antibiotics per clinician for acne than any other major medical specialty and that oral antibiotics remained frequently prescribed for treating acne by both dermatologists and nondermatologists. “Among oral antibiotics, minocycline and trimethoprim-sulfamethoxazole remain relatively commonly prescribed, despite potential safety concerns and a lack of evidence that they are any more effective than doxycycline,” he said in an interview.

“Patient outcomes could likely be improved by reducing use of minocycline and particularly trimethoprim-sulfamethoxazole given its high risk of serious side effects such as SJS/TEN [Stevens-Johnson syndrome/toxic epidermal necrolysis] and acute respiratory failure,” he added.

Dr. Barbieri noted that there are likely opportunities to consider nonantibiotic alternatives such as hormonal therapy (spironolactone, combined oral contraceptives) and isotretinoin. “There is also a need for continued research to identify nonantibiotic treatment options for patients with acne,” he said.

The analysis revealed that for women with acne prescriptions for spironolactone increased about three- to fourfold during the study period among all clinician types. In 2017, oral antibiotics were prescribed about two- to threefold more often than spironolactone, but by 2020 they were being prescribed at about the same frequency. “Given spironolactone may have similar effectiveness to oral antibiotics in the treatment of acne, this shift in practice has the potential to improve outcomes for patients by reducing the risk of antibiotic-associated complications,” Dr. Barbieri wrote. Still, in 2020, oral antibiotics were still slightly more commonly prescribed than spironolactone by nondermatology physicians and NP or PAs.

In other findings, isotretinoin prescribing decreased slightly among male and female patients during the study period. Among antibiotic prescriptions, prescribing for doxycycline increased at a higher rate than prescribing for minocycline, especially among dermatologists and NPs or PAs.

In the interview, Dr. Barbieri acknowledged certain limitations of the study, including the fact that the dataset “does not allow for evaluation of severity of acne and it is not possible to directly link prescriptions to diagnoses, so some prescriptions might not be for acne and others that are for acne might not have been included.”

Lawrence J. Green, MD, of the department of dermatology at George Washington University, Washington, who was asked to comment on the results, said that, while a course of antibiotic therapy was tied to an office visit in the analysis, the duration of each course of therapy was unclear. It would be interesting to see if antibiotic courses became shorter during the time period analyzed, such as 1-3 months versus 4 or more months, he added, “as this should reduce risks associated with long-term use of oral antibiotics.”

Dr. Barbieri reported personal fees from Dexcel Pharma for consulting outside the submitted work. Dr. Green disclosed that he is a speaker, consultant, or investigator for numerous pharmaceutical companies.

While oral antibiotics remained the most prescribed systemic treatment for women with acne, spironolactone use continued to grow and became nearly as common as oral antibiotics, results from an analysis of prescribing trends from 2017 through 2020 showed.

Notably, isotretinoin prescribing among men and women decreased slightly during the study period, “which may reflect ongoing administrative burdens associated with iPLEDGE,” study author John S. Barbieri, MD, MBA, of the department of dermatology, at Brigham and Women’s Hospital, Boston, told this news organization.

For the cross-sectional study, which was published online as a research letter in JAMA Dermatology, Dr. Barbieri drew from the Truven Health MarketScan Commercial Claims Database from Jan. 1, 2017, to Dec. 31, 2020, to identify individuals with an encounter for acne, prescriptions for oral tetracycline antibiotics (doxycycline, minocycline), other commonly prescribed oral antibiotics (trimethoprim-sulfamethoxazole, amoxicillin, cephalexin), spironolactone, and isotretinoin. Only drug courses greater than 28 days were included in the analysis, and Dr. Barbieri stratified them according to clinician type (dermatologist, nondermatology physician, and nurse-practitioner or physician assistant). To normalize prescribing rates (to address possible changes in the number of patients treated for acne over time), the number of treatment courses prescribed each year was standardized to the number of encounters for acne with that clinician type during the same calendar year.

The study period included a mean of 1.9 million acne encounters per year.

Dr. Barbieri found that dermatologists prescribed more oral antibiotics per clinician for acne than any other major medical specialty and that oral antibiotics remained frequently prescribed for treating acne by both dermatologists and nondermatologists. “Among oral antibiotics, minocycline and trimethoprim-sulfamethoxazole remain relatively commonly prescribed, despite potential safety concerns and a lack of evidence that they are any more effective than doxycycline,” he said in an interview.

“Patient outcomes could likely be improved by reducing use of minocycline and particularly trimethoprim-sulfamethoxazole given its high risk of serious side effects such as SJS/TEN [Stevens-Johnson syndrome/toxic epidermal necrolysis] and acute respiratory failure,” he added.

Dr. Barbieri noted that there are likely opportunities to consider nonantibiotic alternatives such as hormonal therapy (spironolactone, combined oral contraceptives) and isotretinoin. “There is also a need for continued research to identify nonantibiotic treatment options for patients with acne,” he said.

The analysis revealed that for women with acne prescriptions for spironolactone increased about three- to fourfold during the study period among all clinician types. In 2017, oral antibiotics were prescribed about two- to threefold more often than spironolactone, but by 2020 they were being prescribed at about the same frequency. “Given spironolactone may have similar effectiveness to oral antibiotics in the treatment of acne, this shift in practice has the potential to improve outcomes for patients by reducing the risk of antibiotic-associated complications,” Dr. Barbieri wrote. Still, in 2020, oral antibiotics were still slightly more commonly prescribed than spironolactone by nondermatology physicians and NP or PAs.

In other findings, isotretinoin prescribing decreased slightly among male and female patients during the study period. Among antibiotic prescriptions, prescribing for doxycycline increased at a higher rate than prescribing for minocycline, especially among dermatologists and NPs or PAs.

In the interview, Dr. Barbieri acknowledged certain limitations of the study, including the fact that the dataset “does not allow for evaluation of severity of acne and it is not possible to directly link prescriptions to diagnoses, so some prescriptions might not be for acne and others that are for acne might not have been included.”

Lawrence J. Green, MD, of the department of dermatology at George Washington University, Washington, who was asked to comment on the results, said that, while a course of antibiotic therapy was tied to an office visit in the analysis, the duration of each course of therapy was unclear. It would be interesting to see if antibiotic courses became shorter during the time period analyzed, such as 1-3 months versus 4 or more months, he added, “as this should reduce risks associated with long-term use of oral antibiotics.”

Dr. Barbieri reported personal fees from Dexcel Pharma for consulting outside the submitted work. Dr. Green disclosed that he is a speaker, consultant, or investigator for numerous pharmaceutical companies.

While oral antibiotics remained the most prescribed systemic treatment for women with acne, spironolactone use continued to grow and became nearly as common as oral antibiotics, results from an analysis of prescribing trends from 2017 through 2020 showed.

Notably, isotretinoin prescribing among men and women decreased slightly during the study period, “which may reflect ongoing administrative burdens associated with iPLEDGE,” study author John S. Barbieri, MD, MBA, of the department of dermatology, at Brigham and Women’s Hospital, Boston, told this news organization.

For the cross-sectional study, which was published online as a research letter in JAMA Dermatology, Dr. Barbieri drew from the Truven Health MarketScan Commercial Claims Database from Jan. 1, 2017, to Dec. 31, 2020, to identify individuals with an encounter for acne, prescriptions for oral tetracycline antibiotics (doxycycline, minocycline), other commonly prescribed oral antibiotics (trimethoprim-sulfamethoxazole, amoxicillin, cephalexin), spironolactone, and isotretinoin. Only drug courses greater than 28 days were included in the analysis, and Dr. Barbieri stratified them according to clinician type (dermatologist, nondermatology physician, and nurse-practitioner or physician assistant). To normalize prescribing rates (to address possible changes in the number of patients treated for acne over time), the number of treatment courses prescribed each year was standardized to the number of encounters for acne with that clinician type during the same calendar year.

The study period included a mean of 1.9 million acne encounters per year.

Dr. Barbieri found that dermatologists prescribed more oral antibiotics per clinician for acne than any other major medical specialty and that oral antibiotics remained frequently prescribed for treating acne by both dermatologists and nondermatologists. “Among oral antibiotics, minocycline and trimethoprim-sulfamethoxazole remain relatively commonly prescribed, despite potential safety concerns and a lack of evidence that they are any more effective than doxycycline,” he said in an interview.

“Patient outcomes could likely be improved by reducing use of minocycline and particularly trimethoprim-sulfamethoxazole given its high risk of serious side effects such as SJS/TEN [Stevens-Johnson syndrome/toxic epidermal necrolysis] and acute respiratory failure,” he added.

Dr. Barbieri noted that there are likely opportunities to consider nonantibiotic alternatives such as hormonal therapy (spironolactone, combined oral contraceptives) and isotretinoin. “There is also a need for continued research to identify nonantibiotic treatment options for patients with acne,” he said.

The analysis revealed that for women with acne prescriptions for spironolactone increased about three- to fourfold during the study period among all clinician types. In 2017, oral antibiotics were prescribed about two- to threefold more often than spironolactone, but by 2020 they were being prescribed at about the same frequency. “Given spironolactone may have similar effectiveness to oral antibiotics in the treatment of acne, this shift in practice has the potential to improve outcomes for patients by reducing the risk of antibiotic-associated complications,” Dr. Barbieri wrote. Still, in 2020, oral antibiotics were still slightly more commonly prescribed than spironolactone by nondermatology physicians and NP or PAs.

In other findings, isotretinoin prescribing decreased slightly among male and female patients during the study period. Among antibiotic prescriptions, prescribing for doxycycline increased at a higher rate than prescribing for minocycline, especially among dermatologists and NPs or PAs.

In the interview, Dr. Barbieri acknowledged certain limitations of the study, including the fact that the dataset “does not allow for evaluation of severity of acne and it is not possible to directly link prescriptions to diagnoses, so some prescriptions might not be for acne and others that are for acne might not have been included.”

Lawrence J. Green, MD, of the department of dermatology at George Washington University, Washington, who was asked to comment on the results, said that, while a course of antibiotic therapy was tied to an office visit in the analysis, the duration of each course of therapy was unclear. It would be interesting to see if antibiotic courses became shorter during the time period analyzed, such as 1-3 months versus 4 or more months, he added, “as this should reduce risks associated with long-term use of oral antibiotics.”

Dr. Barbieri reported personal fees from Dexcel Pharma for consulting outside the submitted work. Dr. Green disclosed that he is a speaker, consultant, or investigator for numerous pharmaceutical companies.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition with lesions that include deep-seated nodules and abscesses, draining tracts, and fibrotic scars, and has been reported to be highly heritable. New findings now suggest that common variants associated with HS, located near the SOX9 and KLF5 genes, may raise the risk of the disease.

A genomewide association study (GWAS) that involved a meta-analysis of data from three large biobanks (UK Biobank, FinnGen, and BioVU) identified one significant locus and two suggestive loci. The researchers were able to replicate the association with HS for two loci near the SOX9 and KLF5 genes in BioVU.

In addition, they also looked at genetic correlations between HS and autoimmune and inflammatory diseases, and results suggested a positive association with inflammatory bowel disease, psoriasis, and type 2 diabetes.

However, while plausible, the variant associations near candidate genes do not prove a causal effect of these variants or genes on disease risk, and further study is needed.

“It’s possible that these genes aren’t the ones affected by the variations we describe, but both are very strong candidates,” said study author Christopher J. Sayed, MD, associate professor of dermatology, University of North Carolina at Chapel Hill. “This improves our understanding of HS as a disease that is likely related to genetic changes that result in dysregulated hair follicle maintenance, inflammation, and wound healing.”

In turn, this will allow clinicians to educate patients about the underlying genetic influences on HS, he explained, as opposed to stigmatizing misconceptions focusing only on weight, smoking, and hygiene.

“Larger studies are underway and will be needed to find variants that may predict things like disease severity and response to treatment, but this is a big first step in the right direction,” Dr. Sayed added.

The study was published online in JAMA Dermatology.
 

Loci identified

GWASs have been limited in HS, and previous research has not identified significant risk loci. In the current study, Dr. Sayed and colleagues sought to identify underlying genes and genetic mechanisms that may underlie pathogenesis in HS.

They performed a GWAS in a cohort of 720 patients who were part of the Hidradenitis Suppurativa Program for Research and Care Excellence (HS ProCARE) at the UNC department of dermatology, and controls from the National Longitudinal Study of Adolescent to Adult Health (Add Health) study, a U.S.-based study following adolescents through adulthood.

Elsevier

The UK Biobank (UKB) is a prospective biobank with about 500,000 individuals aged 40-69 years, and FinnGen collects and analyzes genome and health data from Finnish biobank participants. To increase power to detect associations, a GWAS was performed using participants from the UKB (247 HS cases, 453,048 controls). The HS ProCARE GWAS results were meta-analyzed with UKB, along with data from FinnGen (673 HS cases, 297,544 controls). This three-way meta-analysis revealed one genomewide significant locus and two suggestive loci.

The authors found that the most strongly associated variant, rs10512572 located on chromosome 17, showed the strongest association in FinnGen; at the second locus, the most strongly associated variant was rs17090189 located on chromosome 13 and also showed the strongest association in FinnGen; and at the third locus, the most strongly associated variant, rs5792315, located on chromosome 11, showed the strongest association in HS ProCARE.

Next, they tested the 10 most strongly associated variants at the three loci in the BioVU biobank, which has 290 HS cases, including 189 individuals of European ancestry and 101 individuals of African ancestry, with 64,234 and 12,105 controls, respectively. The locus on chromosome 17 was replicated in BioVU in the same direction of effect, while one variant at the chromosome 13 locus showed nominal evidence of association in the same direction.

In a four-way meta-analysis of BioVU combined with the other three studies, the chromosome locus became more significant and the chromosome 13 locus exceeded the genomewide significance threshold. In contrast, the chromosome 11 locus was not replicated in BioVU (P = .27).

The authors pointed out that variants at these loci are located in keratinocyte regulatory elements near the genes SOX9 and KLF5, which play a role in skin and follicular inflammation, but have not previously been associated with HS pathogenesis.

Finally, they looked to see if there were shared genetic components between HS and autoimmune and inflammatory diseases. A nominally significant genetic correlation was observed between HS and inflammatory bowel disease (P = .04), psoriasis (P = .03), and type 2 diabetes (P = .04), although none reached significance.
 

Different manifestation with genetic variant

In a related study, researchers assessed the prevalence of the NCSTN:c.671_682del variant among individuals with HS in Malta, the island country in the Mediterranean, which has a high prevalence of HS and its associated risk factors, particularly obesity.

Led by Dillon Mintoff, MD, of the department of pathology at the University of Malta, Msida, they conducted a cross-sectional study of 113 adults with HS. In this group, 14 (12.39%) were found to be heterozygous for the NCSTN:c.671_682del variant. Individuals who had this variant were more likely to develop symptoms earlier and to manifest them in atypical skin sites, including the scalp, neck, torso, and antecubital fossae. Additionally, even though their symptoms weren’t more severe than those without the variant, patients with the variant were more likely to require treatment with biologic agents.

Studies move genetics in HS forward

Writing in an accompanying editorial, Atlas Khan, PhD, and Lynn Petukhova, PhD, from Columbia University, New York, noted that both of these HS genetic studies “set a solid foundation for future studies aimed at understanding the biological and clinical relevance of new HS genetic evidence.”

“Each study suggests a series of experiments that will allow us to gain new knowledge about HS,” they wrote, including coming closer to providing patients with a genetic diagnosis.

In addition, evidence from the GWAS paper suggests that with “larger HS GWASs we will be able to better prioritize drug-repurposing studies,” concluded the editorialists. “Both of these goals will help to improve health outcomes for patients with HS and their family members.”

Dr. Sayed reported grants and/or personal fees from AbbVie, Novartis, UCB, Incyte, InflaRx, Alumis, and ChemoCentryx outside the submitted work; and serving as a volunteer member of the board of the HS Foundation and member of the European HS Foundation. The study in Malta was funded by the Government of Malta’s Tertiary Education Scholarship Scheme and Institutional Funds from the University of Malta. Dr. Mintoff reported grants from the Government of Malta Ministry for Education, Sport, Youth, Research and Innovation during the conduct of the study. Dr. Khan reported receiving grants from the National Institute of Diabetes and Digestive Kidney Diseases. Dr. Petukhova reported receiving grants from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, Columbia University’s Precision Medicine Initiative, Herbert Irving Comprehensive Cancer Center, and Data Science Institute.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition with lesions that include deep-seated nodules and abscesses, draining tracts, and fibrotic scars, and has been reported to be highly heritable. New findings now suggest that common variants associated with HS, located near the SOX9 and KLF5 genes, may raise the risk of the disease.

A genomewide association study (GWAS) that involved a meta-analysis of data from three large biobanks (UK Biobank, FinnGen, and BioVU) identified one significant locus and two suggestive loci. The researchers were able to replicate the association with HS for two loci near the SOX9 and KLF5 genes in BioVU.

In addition, they also looked at genetic correlations between HS and autoimmune and inflammatory diseases, and results suggested a positive association with inflammatory bowel disease, psoriasis, and type 2 diabetes.

However, while plausible, the variant associations near candidate genes do not prove a causal effect of these variants or genes on disease risk, and further study is needed.

“It’s possible that these genes aren’t the ones affected by the variations we describe, but both are very strong candidates,” said study author Christopher J. Sayed, MD, associate professor of dermatology, University of North Carolina at Chapel Hill. “This improves our understanding of HS as a disease that is likely related to genetic changes that result in dysregulated hair follicle maintenance, inflammation, and wound healing.”

In turn, this will allow clinicians to educate patients about the underlying genetic influences on HS, he explained, as opposed to stigmatizing misconceptions focusing only on weight, smoking, and hygiene.

“Larger studies are underway and will be needed to find variants that may predict things like disease severity and response to treatment, but this is a big first step in the right direction,” Dr. Sayed added.

The study was published online in JAMA Dermatology.
 

Loci identified

GWASs have been limited in HS, and previous research has not identified significant risk loci. In the current study, Dr. Sayed and colleagues sought to identify underlying genes and genetic mechanisms that may underlie pathogenesis in HS.

They performed a GWAS in a cohort of 720 patients who were part of the Hidradenitis Suppurativa Program for Research and Care Excellence (HS ProCARE) at the UNC department of dermatology, and controls from the National Longitudinal Study of Adolescent to Adult Health (Add Health) study, a U.S.-based study following adolescents through adulthood.

Elsevier

The UK Biobank (UKB) is a prospective biobank with about 500,000 individuals aged 40-69 years, and FinnGen collects and analyzes genome and health data from Finnish biobank participants. To increase power to detect associations, a GWAS was performed using participants from the UKB (247 HS cases, 453,048 controls). The HS ProCARE GWAS results were meta-analyzed with UKB, along with data from FinnGen (673 HS cases, 297,544 controls). This three-way meta-analysis revealed one genomewide significant locus and two suggestive loci.

The authors found that the most strongly associated variant, rs10512572 located on chromosome 17, showed the strongest association in FinnGen; at the second locus, the most strongly associated variant was rs17090189 located on chromosome 13 and also showed the strongest association in FinnGen; and at the third locus, the most strongly associated variant, rs5792315, located on chromosome 11, showed the strongest association in HS ProCARE.

Next, they tested the 10 most strongly associated variants at the three loci in the BioVU biobank, which has 290 HS cases, including 189 individuals of European ancestry and 101 individuals of African ancestry, with 64,234 and 12,105 controls, respectively. The locus on chromosome 17 was replicated in BioVU in the same direction of effect, while one variant at the chromosome 13 locus showed nominal evidence of association in the same direction.

In a four-way meta-analysis of BioVU combined with the other three studies, the chromosome locus became more significant and the chromosome 13 locus exceeded the genomewide significance threshold. In contrast, the chromosome 11 locus was not replicated in BioVU (P = .27).

The authors pointed out that variants at these loci are located in keratinocyte regulatory elements near the genes SOX9 and KLF5, which play a role in skin and follicular inflammation, but have not previously been associated with HS pathogenesis.

Finally, they looked to see if there were shared genetic components between HS and autoimmune and inflammatory diseases. A nominally significant genetic correlation was observed between HS and inflammatory bowel disease (P = .04), psoriasis (P = .03), and type 2 diabetes (P = .04), although none reached significance.
 

Different manifestation with genetic variant

In a related study, researchers assessed the prevalence of the NCSTN:c.671_682del variant among individuals with HS in Malta, the island country in the Mediterranean, which has a high prevalence of HS and its associated risk factors, particularly obesity.

Led by Dillon Mintoff, MD, of the department of pathology at the University of Malta, Msida, they conducted a cross-sectional study of 113 adults with HS. In this group, 14 (12.39%) were found to be heterozygous for the NCSTN:c.671_682del variant. Individuals who had this variant were more likely to develop symptoms earlier and to manifest them in atypical skin sites, including the scalp, neck, torso, and antecubital fossae. Additionally, even though their symptoms weren’t more severe than those without the variant, patients with the variant were more likely to require treatment with biologic agents.

Studies move genetics in HS forward

Writing in an accompanying editorial, Atlas Khan, PhD, and Lynn Petukhova, PhD, from Columbia University, New York, noted that both of these HS genetic studies “set a solid foundation for future studies aimed at understanding the biological and clinical relevance of new HS genetic evidence.”

“Each study suggests a series of experiments that will allow us to gain new knowledge about HS,” they wrote, including coming closer to providing patients with a genetic diagnosis.

In addition, evidence from the GWAS paper suggests that with “larger HS GWASs we will be able to better prioritize drug-repurposing studies,” concluded the editorialists. “Both of these goals will help to improve health outcomes for patients with HS and their family members.”

Dr. Sayed reported grants and/or personal fees from AbbVie, Novartis, UCB, Incyte, InflaRx, Alumis, and ChemoCentryx outside the submitted work; and serving as a volunteer member of the board of the HS Foundation and member of the European HS Foundation. The study in Malta was funded by the Government of Malta’s Tertiary Education Scholarship Scheme and Institutional Funds from the University of Malta. Dr. Mintoff reported grants from the Government of Malta Ministry for Education, Sport, Youth, Research and Innovation during the conduct of the study. Dr. Khan reported receiving grants from the National Institute of Diabetes and Digestive Kidney Diseases. Dr. Petukhova reported receiving grants from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, Columbia University’s Precision Medicine Initiative, Herbert Irving Comprehensive Cancer Center, and Data Science Institute.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition with lesions that include deep-seated nodules and abscesses, draining tracts, and fibrotic scars, and has been reported to be highly heritable. New findings now suggest that common variants associated with HS, located near the SOX9 and KLF5 genes, may raise the risk of the disease.

A genomewide association study (GWAS) that involved a meta-analysis of data from three large biobanks (UK Biobank, FinnGen, and BioVU) identified one significant locus and two suggestive loci. The researchers were able to replicate the association with HS for two loci near the SOX9 and KLF5 genes in BioVU.

In addition, they also looked at genetic correlations between HS and autoimmune and inflammatory diseases, and results suggested a positive association with inflammatory bowel disease, psoriasis, and type 2 diabetes.

However, while plausible, the variant associations near candidate genes do not prove a causal effect of these variants or genes on disease risk, and further study is needed.

“It’s possible that these genes aren’t the ones affected by the variations we describe, but both are very strong candidates,” said study author Christopher J. Sayed, MD, associate professor of dermatology, University of North Carolina at Chapel Hill. “This improves our understanding of HS as a disease that is likely related to genetic changes that result in dysregulated hair follicle maintenance, inflammation, and wound healing.”

In turn, this will allow clinicians to educate patients about the underlying genetic influences on HS, he explained, as opposed to stigmatizing misconceptions focusing only on weight, smoking, and hygiene.

“Larger studies are underway and will be needed to find variants that may predict things like disease severity and response to treatment, but this is a big first step in the right direction,” Dr. Sayed added.

The study was published online in JAMA Dermatology.
 

Loci identified

GWASs have been limited in HS, and previous research has not identified significant risk loci. In the current study, Dr. Sayed and colleagues sought to identify underlying genes and genetic mechanisms that may underlie pathogenesis in HS.

They performed a GWAS in a cohort of 720 patients who were part of the Hidradenitis Suppurativa Program for Research and Care Excellence (HS ProCARE) at the UNC department of dermatology, and controls from the National Longitudinal Study of Adolescent to Adult Health (Add Health) study, a U.S.-based study following adolescents through adulthood.

Elsevier

The UK Biobank (UKB) is a prospective biobank with about 500,000 individuals aged 40-69 years, and FinnGen collects and analyzes genome and health data from Finnish biobank participants. To increase power to detect associations, a GWAS was performed using participants from the UKB (247 HS cases, 453,048 controls). The HS ProCARE GWAS results were meta-analyzed with UKB, along with data from FinnGen (673 HS cases, 297,544 controls). This three-way meta-analysis revealed one genomewide significant locus and two suggestive loci.

The authors found that the most strongly associated variant, rs10512572 located on chromosome 17, showed the strongest association in FinnGen; at the second locus, the most strongly associated variant was rs17090189 located on chromosome 13 and also showed the strongest association in FinnGen; and at the third locus, the most strongly associated variant, rs5792315, located on chromosome 11, showed the strongest association in HS ProCARE.

Next, they tested the 10 most strongly associated variants at the three loci in the BioVU biobank, which has 290 HS cases, including 189 individuals of European ancestry and 101 individuals of African ancestry, with 64,234 and 12,105 controls, respectively. The locus on chromosome 17 was replicated in BioVU in the same direction of effect, while one variant at the chromosome 13 locus showed nominal evidence of association in the same direction.

In a four-way meta-analysis of BioVU combined with the other three studies, the chromosome locus became more significant and the chromosome 13 locus exceeded the genomewide significance threshold. In contrast, the chromosome 11 locus was not replicated in BioVU (P = .27).

The authors pointed out that variants at these loci are located in keratinocyte regulatory elements near the genes SOX9 and KLF5, which play a role in skin and follicular inflammation, but have not previously been associated with HS pathogenesis.

Finally, they looked to see if there were shared genetic components between HS and autoimmune and inflammatory diseases. A nominally significant genetic correlation was observed between HS and inflammatory bowel disease (P = .04), psoriasis (P = .03), and type 2 diabetes (P = .04), although none reached significance.
 

Different manifestation with genetic variant

In a related study, researchers assessed the prevalence of the NCSTN:c.671_682del variant among individuals with HS in Malta, the island country in the Mediterranean, which has a high prevalence of HS and its associated risk factors, particularly obesity.

Led by Dillon Mintoff, MD, of the department of pathology at the University of Malta, Msida, they conducted a cross-sectional study of 113 adults with HS. In this group, 14 (12.39%) were found to be heterozygous for the NCSTN:c.671_682del variant. Individuals who had this variant were more likely to develop symptoms earlier and to manifest them in atypical skin sites, including the scalp, neck, torso, and antecubital fossae. Additionally, even though their symptoms weren’t more severe than those without the variant, patients with the variant were more likely to require treatment with biologic agents.

Studies move genetics in HS forward

Writing in an accompanying editorial, Atlas Khan, PhD, and Lynn Petukhova, PhD, from Columbia University, New York, noted that both of these HS genetic studies “set a solid foundation for future studies aimed at understanding the biological and clinical relevance of new HS genetic evidence.”

“Each study suggests a series of experiments that will allow us to gain new knowledge about HS,” they wrote, including coming closer to providing patients with a genetic diagnosis.

In addition, evidence from the GWAS paper suggests that with “larger HS GWASs we will be able to better prioritize drug-repurposing studies,” concluded the editorialists. “Both of these goals will help to improve health outcomes for patients with HS and their family members.”

Dr. Sayed reported grants and/or personal fees from AbbVie, Novartis, UCB, Incyte, InflaRx, Alumis, and ChemoCentryx outside the submitted work; and serving as a volunteer member of the board of the HS Foundation and member of the European HS Foundation. The study in Malta was funded by the Government of Malta’s Tertiary Education Scholarship Scheme and Institutional Funds from the University of Malta. Dr. Mintoff reported grants from the Government of Malta Ministry for Education, Sport, Youth, Research and Innovation during the conduct of the study. Dr. Khan reported receiving grants from the National Institute of Diabetes and Digestive Kidney Diseases. Dr. Petukhova reported receiving grants from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, Columbia University’s Precision Medicine Initiative, Herbert Irving Comprehensive Cancer Center, and Data Science Institute.

Dermatomyositis is a rare autoimmune condition characterized by muscle inflammation and weakness, and skin findings. The classical presentation includes symmetric proximal muscle weakness and underlying malignancy and is very common in adult patients. The etiology is unknown, however.

Courtesy Lucas Shapiro and Dr. Natalie Y. Nasser

Some studies suggest people with certain HLA subtypes are at higher risk, and various infectious and pharmacological triggers are suspected to play a role in the pathogenesis of dermatomyositis. Infectious causes include Coxsackie B, enterovirus, and parvovirus. Drugs such as antineoplastic agents, antibiotics, and NSAIDs have been found to be triggers.

The pathogenesis of dermatomyositis involves immune-mediated damage to muscle capillaries and the endothelium of arterioles. In the typical humoral immune response, complement activation occurs. One mechanism of damage in dermatomyositis occurs when the membrane attack complex formed at the end of the complement process deposits in blood vessels, causing inflammation. B cells, autoantibodies, and interferon overexpression may also play a role in damaging the vasculature and muscle fibers. Hypoxia leads to muscular atrophy, resulting in degeneration and death of the fibers. On muscle biopsy, a perivascular and perimysial inflammatory infiltrate, perifascicular atrophy, and microangiopathy may be present. Skin histology reveals vacuolar changes in the basal layer, a lymphocytic infiltrate, and increased mucin production in the dermis.

On clinical examination, patients will have proximal muscle weakness and a skin rash that may include Gottron’s papules, heliotrope erythema, V-sign, shawl sign, holster sign, scalp erythema, midfacial erythema, and photosensitivity. Scalp erythema in dermatomyositis is highly linked to pruritus, alopecia, and telogen effluvium. Patients may experience small fiber neuropathy in dermatomyositis.

Serologies for this patient, who had previously been diagnosed and treated for dermatomyositis, were significant for a positive ANA 1:2560. Anti-Jo-1 antibody was negative. Her liver function tests, aldolase, creatinine kinase, sedimentation rate, C-reactive protein, and serum protein electrophoresis were normal. Imaging revealed mild chronic interstitial lung disease. A malignancy workup was negative.

Treatment of dermatomyositis involves lifestyle changes and pharmacologic therapy. Because of the intense photosensitivity, patients should be diligent with their sun protection. Methotrexate, azathioprine, and mycophenolate mofetil are considered first-line therapies for dermatomyositis. Therapies such as cyclophosphamide, rituximab, IVIg, and plasmapheresis may also be indicated in severe or refractory cases. Additionally, patients with pulmonary involvement should be given systemic steroids. The side effects of these drugs must be considered in the context of the patient’s demographics, comorbidities and lifestyle.

This case and the photos were submitted by Lucas Shapiro, BS, of Nova Southeastern University College of Osteopathic Medicine, Fort Lauderdale, Fla., and Natalie Y. Nasser, MD, of Kaiser Permanente Riverside Medical Center, Riverside, Calif. The column was edited by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at mdedge.com/dermatology. To submit a case for possible publication, send an email to dermnews@mdedge.com.

References

1. Qudsiya Z and Waseem M. Dermatomyositis, in “StatPearls.” Treasure Island, Fla.: StatPearls Publishing, 2023 Jan.

2. Kamperman RG et al. Int J Mol Sci. 2022 Apr 13;23(8):4301.

3. Kassamali B et al. Int J WomensDermatol. 2021 Sep 24;7(5Part A):576-82.

4. Vázquez-Herrera NE et al. Skin Appendage Disord. 2018 Aug;4(3):187-99.

Dermatomyositis is a rare autoimmune condition characterized by muscle inflammation and weakness, and skin findings. The classical presentation includes symmetric proximal muscle weakness and underlying malignancy and is very common in adult patients. The etiology is unknown, however.

Courtesy Lucas Shapiro and Dr. Natalie Y. Nasser

Some studies suggest people with certain HLA subtypes are at higher risk, and various infectious and pharmacological triggers are suspected to play a role in the pathogenesis of dermatomyositis. Infectious causes include Coxsackie B, enterovirus, and parvovirus. Drugs such as antineoplastic agents, antibiotics, and NSAIDs have been found to be triggers.

The pathogenesis of dermatomyositis involves immune-mediated damage to muscle capillaries and the endothelium of arterioles. In the typical humoral immune response, complement activation occurs. One mechanism of damage in dermatomyositis occurs when the membrane attack complex formed at the end of the complement process deposits in blood vessels, causing inflammation. B cells, autoantibodies, and interferon overexpression may also play a role in damaging the vasculature and muscle fibers. Hypoxia leads to muscular atrophy, resulting in degeneration and death of the fibers. On muscle biopsy, a perivascular and perimysial inflammatory infiltrate, perifascicular atrophy, and microangiopathy may be present. Skin histology reveals vacuolar changes in the basal layer, a lymphocytic infiltrate, and increased mucin production in the dermis.

On clinical examination, patients will have proximal muscle weakness and a skin rash that may include Gottron’s papules, heliotrope erythema, V-sign, shawl sign, holster sign, scalp erythema, midfacial erythema, and photosensitivity. Scalp erythema in dermatomyositis is highly linked to pruritus, alopecia, and telogen effluvium. Patients may experience small fiber neuropathy in dermatomyositis.

Serologies for this patient, who had previously been diagnosed and treated for dermatomyositis, were significant for a positive ANA 1:2560. Anti-Jo-1 antibody was negative. Her liver function tests, aldolase, creatinine kinase, sedimentation rate, C-reactive protein, and serum protein electrophoresis were normal. Imaging revealed mild chronic interstitial lung disease. A malignancy workup was negative.

Treatment of dermatomyositis involves lifestyle changes and pharmacologic therapy. Because of the intense photosensitivity, patients should be diligent with their sun protection. Methotrexate, azathioprine, and mycophenolate mofetil are considered first-line therapies for dermatomyositis. Therapies such as cyclophosphamide, rituximab, IVIg, and plasmapheresis may also be indicated in severe or refractory cases. Additionally, patients with pulmonary involvement should be given systemic steroids. The side effects of these drugs must be considered in the context of the patient’s demographics, comorbidities and lifestyle.

This case and the photos were submitted by Lucas Shapiro, BS, of Nova Southeastern University College of Osteopathic Medicine, Fort Lauderdale, Fla., and Natalie Y. Nasser, MD, of Kaiser Permanente Riverside Medical Center, Riverside, Calif. The column was edited by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at mdedge.com/dermatology. To submit a case for possible publication, send an email to dermnews@mdedge.com.

References

1. Qudsiya Z and Waseem M. Dermatomyositis, in “StatPearls.” Treasure Island, Fla.: StatPearls Publishing, 2023 Jan.

2. Kamperman RG et al. Int J Mol Sci. 2022 Apr 13;23(8):4301.

3. Kassamali B et al. Int J WomensDermatol. 2021 Sep 24;7(5Part A):576-82.

4. Vázquez-Herrera NE et al. Skin Appendage Disord. 2018 Aug;4(3):187-99.

Dermatomyositis is a rare autoimmune condition characterized by muscle inflammation and weakness, and skin findings. The classical presentation includes symmetric proximal muscle weakness and underlying malignancy and is very common in adult patients. The etiology is unknown, however.

Courtesy Lucas Shapiro and Dr. Natalie Y. Nasser

Some studies suggest people with certain HLA subtypes are at higher risk, and various infectious and pharmacological triggers are suspected to play a role in the pathogenesis of dermatomyositis. Infectious causes include Coxsackie B, enterovirus, and parvovirus. Drugs such as antineoplastic agents, antibiotics, and NSAIDs have been found to be triggers.

The pathogenesis of dermatomyositis involves immune-mediated damage to muscle capillaries and the endothelium of arterioles. In the typical humoral immune response, complement activation occurs. One mechanism of damage in dermatomyositis occurs when the membrane attack complex formed at the end of the complement process deposits in blood vessels, causing inflammation. B cells, autoantibodies, and interferon overexpression may also play a role in damaging the vasculature and muscle fibers. Hypoxia leads to muscular atrophy, resulting in degeneration and death of the fibers. On muscle biopsy, a perivascular and perimysial inflammatory infiltrate, perifascicular atrophy, and microangiopathy may be present. Skin histology reveals vacuolar changes in the basal layer, a lymphocytic infiltrate, and increased mucin production in the dermis.

On clinical examination, patients will have proximal muscle weakness and a skin rash that may include Gottron’s papules, heliotrope erythema, V-sign, shawl sign, holster sign, scalp erythema, midfacial erythema, and photosensitivity. Scalp erythema in dermatomyositis is highly linked to pruritus, alopecia, and telogen effluvium. Patients may experience small fiber neuropathy in dermatomyositis.

Serologies for this patient, who had previously been diagnosed and treated for dermatomyositis, were significant for a positive ANA 1:2560. Anti-Jo-1 antibody was negative. Her liver function tests, aldolase, creatinine kinase, sedimentation rate, C-reactive protein, and serum protein electrophoresis were normal. Imaging revealed mild chronic interstitial lung disease. A malignancy workup was negative.

Treatment of dermatomyositis involves lifestyle changes and pharmacologic therapy. Because of the intense photosensitivity, patients should be diligent with their sun protection. Methotrexate, azathioprine, and mycophenolate mofetil are considered first-line therapies for dermatomyositis. Therapies such as cyclophosphamide, rituximab, IVIg, and plasmapheresis may also be indicated in severe or refractory cases. Additionally, patients with pulmonary involvement should be given systemic steroids. The side effects of these drugs must be considered in the context of the patient’s demographics, comorbidities and lifestyle.

This case and the photos were submitted by Lucas Shapiro, BS, of Nova Southeastern University College of Osteopathic Medicine, Fort Lauderdale, Fla., and Natalie Y. Nasser, MD, of Kaiser Permanente Riverside Medical Center, Riverside, Calif. The column was edited by Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at mdedge.com/dermatology. To submit a case for possible publication, send an email to dermnews@mdedge.com.

References

1. Qudsiya Z and Waseem M. Dermatomyositis, in “StatPearls.” Treasure Island, Fla.: StatPearls Publishing, 2023 Jan.

2. Kamperman RG et al. Int J Mol Sci. 2022 Apr 13;23(8):4301.

3. Kassamali B et al. Int J WomensDermatol. 2021 Sep 24;7(5Part A):576-82.

4. Vázquez-Herrera NE et al. Skin Appendage Disord. 2018 Aug;4(3):187-99.