Dermatology

THE COMPARISON

A Seborrheic dermatitis in a woman with brown-gray greasy scale, as well as petaloid papules and plaques that are especially prominent in the nasolabial folds.

B Seborrheic dermatitis in a man with erythema, scale, and mild postinflammatory hypopigmentation that are especially prominent in the nasolabial folds.

C Seborrheic dermatitis in a man with erythema, faint scale, and postinflammatory hypopigmentation that are especially prominent in the nasolabial folds.

D Seborrheic dermatitis in a man with erythema and scale of the eyebrows and glabellar region.

Seborrheic dermatitis (SD) is an inflammatory condition that is thought to be part of a response to Malassezia yeast. The scalp and face are most commonly affected, particularly the nasolabial folds, eyebrows, ears, postauricular areas, and beard area. Men also may have SD on the mid upper chest in association with chest hair. In infants, the scalp and body skin folds often are affected.

Epidemiology

SD affects patients of all ages: infants, adolescents, and adults. It is among the most common dermatologic diagnoses reported in Black patients in the United States.¹

Key clinical features in darker skin tones

• In those with darker skin tones, arcuate, polycyclic, or petaloid (flower petallike) plaques may be present (FIGURE A). Also, hypopigmented patches and plaques may be prominent (FIGURES B AND C). The classic description includes thin pink patches and plaques with white greasy scale on the face (FIGURE D).
• The scalp may have diffuse scale or isolated scaly plaques.

Worth noting

• In those with tightly coiled hair, there is a predisposition for dry hair and increased risk for breakage.
• Treatment plans for patients with SD often include frequent hair washing. However, in those with tightly coiled hair, the treatment plan may need to be modified due to hair texture, tendency for dryness, and washing frequency preferences. Washing the scalp at least every 1 to 2 weeks may be a preferred approach for those with tightly coiled hair at increased risk for dryness/breakage vs washing daily.² In a sample of 201 caregivers of Black girls, Rucker Wright et al3 found that washing the hair more than once per week was not correlated with a lower prevalence of SD.
• If tightly coiled hair is temporarily straightened with heat (eg, blow-dryer, flat iron), adding a liquid-based treatment such as clobetasol solution or fluocinonide solution will cause the hair to revert to its normal curl pattern.
• It is appropriate to ask patients for their vehicle preference for medications.² For example, if clobetasol is the treatment selected for the patient, the vehicle can reflect patient preference for a liquid, foam, cream, or ointment.
• Some antifungal/antiyeast shampoos may cause further hair dryness and breakage.
• Treatment may be delayed because patients often use various topical pomades and ointments to cover up the scale and help with pruritus.
• Diffuse scale of tinea capitis in school- aged children can be mistaken for SD, which leads to delayed diagnosis and treatment.
• Clinicians should become comfortable with scalp examinations in patients with tightly coiled hair. Patients with chief concerns related to their hair and scalp expect their clinicians to touch these areas. Avoid leaning in to examine the patient without touching the patient’s hair and scalp.^2,4

Health disparity highlight

SD is among the most common cutaneous disorders diagnosed in patients with skin of color.^1,5 Delay in recognition of SD in those with darker skin tones leads to delayed treatment. SD of the face can cause notable postinflammatory pigmentation alteration. Pigmentation changes in the skin further impact quality of life.

THE COMPARISON

A Seborrheic dermatitis in a woman with brown-gray greasy scale, as well as petaloid papules and plaques that are especially prominent in the nasolabial folds.

B Seborrheic dermatitis in a man with erythema, scale, and mild postinflammatory hypopigmentation that are especially prominent in the nasolabial folds.

C Seborrheic dermatitis in a man with erythema, faint scale, and postinflammatory hypopigmentation that are especially prominent in the nasolabial folds.

D Seborrheic dermatitis in a man with erythema and scale of the eyebrows and glabellar region.

Seborrheic dermatitis (SD) is an inflammatory condition that is thought to be part of a response to Malassezia yeast. The scalp and face are most commonly affected, particularly the nasolabial folds, eyebrows, ears, postauricular areas, and beard area. Men also may have SD on the mid upper chest in association with chest hair. In infants, the scalp and body skin folds often are affected.

Epidemiology

SD affects patients of all ages: infants, adolescents, and adults. It is among the most common dermatologic diagnoses reported in Black patients in the United States.¹

Key clinical features in darker skin tones

• In those with darker skin tones, arcuate, polycyclic, or petaloid (flower petallike) plaques may be present (FIGURE A). Also, hypopigmented patches and plaques may be prominent (FIGURES B AND C). The classic description includes thin pink patches and plaques with white greasy scale on the face (FIGURE D).
• The scalp may have diffuse scale or isolated scaly plaques.

Worth noting

• In those with tightly coiled hair, there is a predisposition for dry hair and increased risk for breakage.
• Treatment plans for patients with SD often include frequent hair washing. However, in those with tightly coiled hair, the treatment plan may need to be modified due to hair texture, tendency for dryness, and washing frequency preferences. Washing the scalp at least every 1 to 2 weeks may be a preferred approach for those with tightly coiled hair at increased risk for dryness/breakage vs washing daily.² In a sample of 201 caregivers of Black girls, Rucker Wright et al3 found that washing the hair more than once per week was not correlated with a lower prevalence of SD.
• If tightly coiled hair is temporarily straightened with heat (eg, blow-dryer, flat iron), adding a liquid-based treatment such as clobetasol solution or fluocinonide solution will cause the hair to revert to its normal curl pattern.
• It is appropriate to ask patients for their vehicle preference for medications.² For example, if clobetasol is the treatment selected for the patient, the vehicle can reflect patient preference for a liquid, foam, cream, or ointment.
• Some antifungal/antiyeast shampoos may cause further hair dryness and breakage.
• Treatment may be delayed because patients often use various topical pomades and ointments to cover up the scale and help with pruritus.
• Diffuse scale of tinea capitis in school- aged children can be mistaken for SD, which leads to delayed diagnosis and treatment.
• Clinicians should become comfortable with scalp examinations in patients with tightly coiled hair. Patients with chief concerns related to their hair and scalp expect their clinicians to touch these areas. Avoid leaning in to examine the patient without touching the patient’s hair and scalp.^2,4

Health disparity highlight

SD is among the most common cutaneous disorders diagnosed in patients with skin of color.^1,5 Delay in recognition of SD in those with darker skin tones leads to delayed treatment. SD of the face can cause notable postinflammatory pigmentation alteration. Pigmentation changes in the skin further impact quality of life.

THE COMPARISON

A Seborrheic dermatitis in a woman with brown-gray greasy scale, as well as petaloid papules and plaques that are especially prominent in the nasolabial folds.

B Seborrheic dermatitis in a man with erythema, scale, and mild postinflammatory hypopigmentation that are especially prominent in the nasolabial folds.

C Seborrheic dermatitis in a man with erythema, faint scale, and postinflammatory hypopigmentation that are especially prominent in the nasolabial folds.

D Seborrheic dermatitis in a man with erythema and scale of the eyebrows and glabellar region.

Seborrheic dermatitis (SD) is an inflammatory condition that is thought to be part of a response to Malassezia yeast. The scalp and face are most commonly affected, particularly the nasolabial folds, eyebrows, ears, postauricular areas, and beard area. Men also may have SD on the mid upper chest in association with chest hair. In infants, the scalp and body skin folds often are affected.

Epidemiology

SD affects patients of all ages: infants, adolescents, and adults. It is among the most common dermatologic diagnoses reported in Black patients in the United States.¹

Key clinical features in darker skin tones

• In those with darker skin tones, arcuate, polycyclic, or petaloid (flower petallike) plaques may be present (FIGURE A). Also, hypopigmented patches and plaques may be prominent (FIGURES B AND C). The classic description includes thin pink patches and plaques with white greasy scale on the face (FIGURE D).
• The scalp may have diffuse scale or isolated scaly plaques.

Worth noting

• In those with tightly coiled hair, there is a predisposition for dry hair and increased risk for breakage.
• Treatment plans for patients with SD often include frequent hair washing. However, in those with tightly coiled hair, the treatment plan may need to be modified due to hair texture, tendency for dryness, and washing frequency preferences. Washing the scalp at least every 1 to 2 weeks may be a preferred approach for those with tightly coiled hair at increased risk for dryness/breakage vs washing daily.² In a sample of 201 caregivers of Black girls, Rucker Wright et al3 found that washing the hair more than once per week was not correlated with a lower prevalence of SD.
• If tightly coiled hair is temporarily straightened with heat (eg, blow-dryer, flat iron), adding a liquid-based treatment such as clobetasol solution or fluocinonide solution will cause the hair to revert to its normal curl pattern.
• It is appropriate to ask patients for their vehicle preference for medications.² For example, if clobetasol is the treatment selected for the patient, the vehicle can reflect patient preference for a liquid, foam, cream, or ointment.
• Some antifungal/antiyeast shampoos may cause further hair dryness and breakage.
• Treatment may be delayed because patients often use various topical pomades and ointments to cover up the scale and help with pruritus.
• Diffuse scale of tinea capitis in school- aged children can be mistaken for SD, which leads to delayed diagnosis and treatment.
• Clinicians should become comfortable with scalp examinations in patients with tightly coiled hair. Patients with chief concerns related to their hair and scalp expect their clinicians to touch these areas. Avoid leaning in to examine the patient without touching the patient’s hair and scalp.^2,4

Health disparity highlight

SD is among the most common cutaneous disorders diagnosed in patients with skin of color.^1,5 Delay in recognition of SD in those with darker skin tones leads to delayed treatment. SD of the face can cause notable postinflammatory pigmentation alteration. Pigmentation changes in the skin further impact quality of life.

An analysis of open-access skin image datasets available to train machine-learning algorithms to identify skin cancer has revealed that darker skin types are markedly underrepresented in the databases, researchers in the United Kingdom report.

Out of 106,950 skin lesions documented in 21 open-access databases and 17 open-access atlases identified by David Wen, BMBCh, from the University of Oxford (England), and colleagues, 2,436 images contained information on Fitzpatrick skin type. Of these, “only 10 images were from individuals with Fitzpatrick skin type V, and only a single image was from an individual with Fitzpatrick skin type VI,” the researchers said. “The ethnicity of these individuals was either Brazilian or unknown.”

In two datasets containing 1,585 images with ethnicity data, “no images were from individuals with an African, Afro-Caribbean, or South Asian background,” Dr. Wen and colleagues noted. “Coupled with the geographical origins of datasets, there was massive under-representation of skin lesion images from darker-skinned populations.”

The results of their systematic review were presented at the National Cancer Research Institute Festival and published on Nov. 9, 2021, in The Lancet Digital Health. To the best of their knowledge, they wrote, this is “the first systematic review of publicly available skin lesion images comprising predominantly dermoscopic and macroscopic images available through open access datasets and atlases.”

Overall, 11 of 14 datasets (79%) were from North America, Europe, or Oceania among datasets with information on country of origin, the researchers said. Either dermoscopic images or macroscopic photographs were the only types of images available in 19 of 21 (91%) datasets. There was some variation in the clinical information available, with 81,662 images (76.4%) containing information on age, 82,848 images (77.5%) having information on gender, and 79,561 images having information about body site (74.4%).

The researchers explained that these datasets might be of limited use in a real-world setting where the images aren’t representative of the population. Artificial intelligence (AI) programs that train using images of patients with one skin type, for example, can potentially misdiagnose patients of another skin type, they said.

“AI programs hold a lot of potential for diagnosing skin cancer because it can look at pictures and quickly and cost-effectively evaluate any worrying spots on the skin,” Dr. Wen said in a press release from the NCRI Festival. “However, it’s important to know about the images and patients used to develop programs, as these influence which groups of people the programs will be most effective for in real-life settings. Research has shown that programs trained on images taken from people with lighter skin types only might not be as accurate for people with darker skin, and vice versa.”

There was also “limited information on who, how and why the images were taken,” Dr. Wen said in the release. “This has implications for the programs developed from these images, due to uncertainty around how they may perform in different groups of people, especially in those who aren’t well represented in datasets, such as those with darker skin. This can potentially lead to the exclusion or even harm of these groups from AI technologies.”

While there are no current guidelines for developing skin image datasets, quality standards are needed, according to the researchers.

“Ensuring equitable digital health includes building unbiased, representative datasets to ensure that the algorithms that are created benefit people of all backgrounds and skin types,” they concluded in the study.

Neil Steven, MBBS, MA, PhD, FRCP, an NCRI Skin Group member who was not involved with the research, stated in the press release that the results from the study by Dr. Wen and colleagues “raise concerns about the ability of AI to assist in skin cancer diagnosis, especially in a global context.”

“I hope this work will continue and help ensure that the progress we make in using AI in medicine will benefit all patients, recognizing that human skin color is highly diverse,” said Dr. Steven, honorary consultant in medical oncology at University Hospitals Birmingham (England) NHS Foundation Trust.

‘We need more images of everybody’

Dermatologist Adewole Adamson, MD, MPP, assistant professor in the department of internal medicine (division of dermatology) at the University of Texas at Austin, said in an interview that a “major potential downside” of algorithms not trained on diverse datasets is the potential for incorrect diagnoses.

“The harms of algorithms used for diagnostic purposes in the skin can be particularly significant because of the scalability of this technology. A lot of thought needs to be put into how these algorithms are developed and tested,” said Dr. Adamson, who reviewed the manuscript of The Lancet Digital Health study but was not involved with the research.

He referred to the results of a recently published study in JAMA Dermatology, which found that only 10% of studies used to develop or test deep-learning algorithms contained metadata on skin tone. “Furthermore, most datasets are from countries where darker skin types are not represented. [These] algorithms therefore likely underperform on people of darker skin types and thus, users should be wary,” Dr. Adamson said.

A consensus guideline should be developed for public AI algorithms, he said, which should have metadata containing information on sex, race/ethnicity, geographic location, skin type, and part of the body. “This distribution should also be reported in any publication of an algorithm so that users can see if the distribution of the population in the training data mirrors that of the population in which it is intended to be used,” he added.

Adam Friedman, MD, professor and chair of dermatology at George Washington University, Washington, who was not involved with the research, said that, while this issue of underrepresentation has been known in dermatology for some time, the strength of the Lancet study is that it is a large study, with a message of “we need more images of everybody.”

“This is probably the broadest study looking at every possible accessible resource and taking an organized approach,” Dr. Friedman said in an interview. “But I think it also raises some important points about how we think about skin tones and how we refer to them as well with respect to misusing classification schemes that we currently have.”

While using ethnicity data and certain Fitzpatrick skin types as a proxy for darker skin is a limitation of the metadata the study authors had available, it also highlights “a broader problem with respect to lexicon regarding skin tone,” he explained.

“Skin does not have a race, it doesn’t have an ethnicity,” Dr. Friedman said.

A dataset that contains not only different skin tones but how different dermatologic conditions look across skin tones is important. “If you just look at one photo of one skin tone, you missed the fact that clinical presentations can be so polymorphic, especially because of different skin tones,” Dr. Friedman said.

“We need to keep pushing this message to ensure that images keep getting collected. We [need to] ensure that there’s quality control with these images and that we’re disseminating them in a way that everyone has access, both from self-learning, but also to teach others,” said Dr. Friedman, coeditor of a recently introduced dermatology atlas showing skin conditions in different skin tones.

Adamson reports no relevant financial relationships. Dr. Friedman is a coeditor of a dermatology atlas supported by Allergan Aesthetics and SkinBetter Science. This study was funded by NHSX and the Health Foundation. Three authors reported being paid employees of Databiology at the time of the study. The other authors reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.
 

An analysis of open-access skin image datasets available to train machine-learning algorithms to identify skin cancer has revealed that darker skin types are markedly underrepresented in the databases, researchers in the United Kingdom report.

Out of 106,950 skin lesions documented in 21 open-access databases and 17 open-access atlases identified by David Wen, BMBCh, from the University of Oxford (England), and colleagues, 2,436 images contained information on Fitzpatrick skin type. Of these, “only 10 images were from individuals with Fitzpatrick skin type V, and only a single image was from an individual with Fitzpatrick skin type VI,” the researchers said. “The ethnicity of these individuals was either Brazilian or unknown.”

In two datasets containing 1,585 images with ethnicity data, “no images were from individuals with an African, Afro-Caribbean, or South Asian background,” Dr. Wen and colleagues noted. “Coupled with the geographical origins of datasets, there was massive under-representation of skin lesion images from darker-skinned populations.”

The results of their systematic review were presented at the National Cancer Research Institute Festival and published on Nov. 9, 2021, in The Lancet Digital Health. To the best of their knowledge, they wrote, this is “the first systematic review of publicly available skin lesion images comprising predominantly dermoscopic and macroscopic images available through open access datasets and atlases.”

Overall, 11 of 14 datasets (79%) were from North America, Europe, or Oceania among datasets with information on country of origin, the researchers said. Either dermoscopic images or macroscopic photographs were the only types of images available in 19 of 21 (91%) datasets. There was some variation in the clinical information available, with 81,662 images (76.4%) containing information on age, 82,848 images (77.5%) having information on gender, and 79,561 images having information about body site (74.4%).

The researchers explained that these datasets might be of limited use in a real-world setting where the images aren’t representative of the population. Artificial intelligence (AI) programs that train using images of patients with one skin type, for example, can potentially misdiagnose patients of another skin type, they said.

“AI programs hold a lot of potential for diagnosing skin cancer because it can look at pictures and quickly and cost-effectively evaluate any worrying spots on the skin,” Dr. Wen said in a press release from the NCRI Festival. “However, it’s important to know about the images and patients used to develop programs, as these influence which groups of people the programs will be most effective for in real-life settings. Research has shown that programs trained on images taken from people with lighter skin types only might not be as accurate for people with darker skin, and vice versa.”

There was also “limited information on who, how and why the images were taken,” Dr. Wen said in the release. “This has implications for the programs developed from these images, due to uncertainty around how they may perform in different groups of people, especially in those who aren’t well represented in datasets, such as those with darker skin. This can potentially lead to the exclusion or even harm of these groups from AI technologies.”

While there are no current guidelines for developing skin image datasets, quality standards are needed, according to the researchers.

“Ensuring equitable digital health includes building unbiased, representative datasets to ensure that the algorithms that are created benefit people of all backgrounds and skin types,” they concluded in the study.

Neil Steven, MBBS, MA, PhD, FRCP, an NCRI Skin Group member who was not involved with the research, stated in the press release that the results from the study by Dr. Wen and colleagues “raise concerns about the ability of AI to assist in skin cancer diagnosis, especially in a global context.”

“I hope this work will continue and help ensure that the progress we make in using AI in medicine will benefit all patients, recognizing that human skin color is highly diverse,” said Dr. Steven, honorary consultant in medical oncology at University Hospitals Birmingham (England) NHS Foundation Trust.

‘We need more images of everybody’

Dermatologist Adewole Adamson, MD, MPP, assistant professor in the department of internal medicine (division of dermatology) at the University of Texas at Austin, said in an interview that a “major potential downside” of algorithms not trained on diverse datasets is the potential for incorrect diagnoses.

“The harms of algorithms used for diagnostic purposes in the skin can be particularly significant because of the scalability of this technology. A lot of thought needs to be put into how these algorithms are developed and tested,” said Dr. Adamson, who reviewed the manuscript of The Lancet Digital Health study but was not involved with the research.

He referred to the results of a recently published study in JAMA Dermatology, which found that only 10% of studies used to develop or test deep-learning algorithms contained metadata on skin tone. “Furthermore, most datasets are from countries where darker skin types are not represented. [These] algorithms therefore likely underperform on people of darker skin types and thus, users should be wary,” Dr. Adamson said.

A consensus guideline should be developed for public AI algorithms, he said, which should have metadata containing information on sex, race/ethnicity, geographic location, skin type, and part of the body. “This distribution should also be reported in any publication of an algorithm so that users can see if the distribution of the population in the training data mirrors that of the population in which it is intended to be used,” he added.

Adam Friedman, MD, professor and chair of dermatology at George Washington University, Washington, who was not involved with the research, said that, while this issue of underrepresentation has been known in dermatology for some time, the strength of the Lancet study is that it is a large study, with a message of “we need more images of everybody.”

“This is probably the broadest study looking at every possible accessible resource and taking an organized approach,” Dr. Friedman said in an interview. “But I think it also raises some important points about how we think about skin tones and how we refer to them as well with respect to misusing classification schemes that we currently have.”

While using ethnicity data and certain Fitzpatrick skin types as a proxy for darker skin is a limitation of the metadata the study authors had available, it also highlights “a broader problem with respect to lexicon regarding skin tone,” he explained.

“Skin does not have a race, it doesn’t have an ethnicity,” Dr. Friedman said.

A dataset that contains not only different skin tones but how different dermatologic conditions look across skin tones is important. “If you just look at one photo of one skin tone, you missed the fact that clinical presentations can be so polymorphic, especially because of different skin tones,” Dr. Friedman said.

“We need to keep pushing this message to ensure that images keep getting collected. We [need to] ensure that there’s quality control with these images and that we’re disseminating them in a way that everyone has access, both from self-learning, but also to teach others,” said Dr. Friedman, coeditor of a recently introduced dermatology atlas showing skin conditions in different skin tones.

Adamson reports no relevant financial relationships. Dr. Friedman is a coeditor of a dermatology atlas supported by Allergan Aesthetics and SkinBetter Science. This study was funded by NHSX and the Health Foundation. Three authors reported being paid employees of Databiology at the time of the study. The other authors reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.
 

An analysis of open-access skin image datasets available to train machine-learning algorithms to identify skin cancer has revealed that darker skin types are markedly underrepresented in the databases, researchers in the United Kingdom report.

Out of 106,950 skin lesions documented in 21 open-access databases and 17 open-access atlases identified by David Wen, BMBCh, from the University of Oxford (England), and colleagues, 2,436 images contained information on Fitzpatrick skin type. Of these, “only 10 images were from individuals with Fitzpatrick skin type V, and only a single image was from an individual with Fitzpatrick skin type VI,” the researchers said. “The ethnicity of these individuals was either Brazilian or unknown.”

In two datasets containing 1,585 images with ethnicity data, “no images were from individuals with an African, Afro-Caribbean, or South Asian background,” Dr. Wen and colleagues noted. “Coupled with the geographical origins of datasets, there was massive under-representation of skin lesion images from darker-skinned populations.”

The results of their systematic review were presented at the National Cancer Research Institute Festival and published on Nov. 9, 2021, in The Lancet Digital Health. To the best of their knowledge, they wrote, this is “the first systematic review of publicly available skin lesion images comprising predominantly dermoscopic and macroscopic images available through open access datasets and atlases.”

Overall, 11 of 14 datasets (79%) were from North America, Europe, or Oceania among datasets with information on country of origin, the researchers said. Either dermoscopic images or macroscopic photographs were the only types of images available in 19 of 21 (91%) datasets. There was some variation in the clinical information available, with 81,662 images (76.4%) containing information on age, 82,848 images (77.5%) having information on gender, and 79,561 images having information about body site (74.4%).

The researchers explained that these datasets might be of limited use in a real-world setting where the images aren’t representative of the population. Artificial intelligence (AI) programs that train using images of patients with one skin type, for example, can potentially misdiagnose patients of another skin type, they said.

“AI programs hold a lot of potential for diagnosing skin cancer because it can look at pictures and quickly and cost-effectively evaluate any worrying spots on the skin,” Dr. Wen said in a press release from the NCRI Festival. “However, it’s important to know about the images and patients used to develop programs, as these influence which groups of people the programs will be most effective for in real-life settings. Research has shown that programs trained on images taken from people with lighter skin types only might not be as accurate for people with darker skin, and vice versa.”

There was also “limited information on who, how and why the images were taken,” Dr. Wen said in the release. “This has implications for the programs developed from these images, due to uncertainty around how they may perform in different groups of people, especially in those who aren’t well represented in datasets, such as those with darker skin. This can potentially lead to the exclusion or even harm of these groups from AI technologies.”

While there are no current guidelines for developing skin image datasets, quality standards are needed, according to the researchers.

“Ensuring equitable digital health includes building unbiased, representative datasets to ensure that the algorithms that are created benefit people of all backgrounds and skin types,” they concluded in the study.

Neil Steven, MBBS, MA, PhD, FRCP, an NCRI Skin Group member who was not involved with the research, stated in the press release that the results from the study by Dr. Wen and colleagues “raise concerns about the ability of AI to assist in skin cancer diagnosis, especially in a global context.”

“I hope this work will continue and help ensure that the progress we make in using AI in medicine will benefit all patients, recognizing that human skin color is highly diverse,” said Dr. Steven, honorary consultant in medical oncology at University Hospitals Birmingham (England) NHS Foundation Trust.

‘We need more images of everybody’

Dermatologist Adewole Adamson, MD, MPP, assistant professor in the department of internal medicine (division of dermatology) at the University of Texas at Austin, said in an interview that a “major potential downside” of algorithms not trained on diverse datasets is the potential for incorrect diagnoses.

“The harms of algorithms used for diagnostic purposes in the skin can be particularly significant because of the scalability of this technology. A lot of thought needs to be put into how these algorithms are developed and tested,” said Dr. Adamson, who reviewed the manuscript of The Lancet Digital Health study but was not involved with the research.

He referred to the results of a recently published study in JAMA Dermatology, which found that only 10% of studies used to develop or test deep-learning algorithms contained metadata on skin tone. “Furthermore, most datasets are from countries where darker skin types are not represented. [These] algorithms therefore likely underperform on people of darker skin types and thus, users should be wary,” Dr. Adamson said.

A consensus guideline should be developed for public AI algorithms, he said, which should have metadata containing information on sex, race/ethnicity, geographic location, skin type, and part of the body. “This distribution should also be reported in any publication of an algorithm so that users can see if the distribution of the population in the training data mirrors that of the population in which it is intended to be used,” he added.

Adam Friedman, MD, professor and chair of dermatology at George Washington University, Washington, who was not involved with the research, said that, while this issue of underrepresentation has been known in dermatology for some time, the strength of the Lancet study is that it is a large study, with a message of “we need more images of everybody.”

“This is probably the broadest study looking at every possible accessible resource and taking an organized approach,” Dr. Friedman said in an interview. “But I think it also raises some important points about how we think about skin tones and how we refer to them as well with respect to misusing classification schemes that we currently have.”

While using ethnicity data and certain Fitzpatrick skin types as a proxy for darker skin is a limitation of the metadata the study authors had available, it also highlights “a broader problem with respect to lexicon regarding skin tone,” he explained.

“Skin does not have a race, it doesn’t have an ethnicity,” Dr. Friedman said.

A dataset that contains not only different skin tones but how different dermatologic conditions look across skin tones is important. “If you just look at one photo of one skin tone, you missed the fact that clinical presentations can be so polymorphic, especially because of different skin tones,” Dr. Friedman said.

“We need to keep pushing this message to ensure that images keep getting collected. We [need to] ensure that there’s quality control with these images and that we’re disseminating them in a way that everyone has access, both from self-learning, but also to teach others,” said Dr. Friedman, coeditor of a recently introduced dermatology atlas showing skin conditions in different skin tones.

Adamson reports no relevant financial relationships. Dr. Friedman is a coeditor of a dermatology atlas supported by Allergan Aesthetics and SkinBetter Science. This study was funded by NHSX and the Health Foundation. Three authors reported being paid employees of Databiology at the time of the study. The other authors reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.
 

ANSWER

The correct answer is inclusion cyst (choice “c”).

DISCUSSION

Inclusion cysts are also called traumatic inclusion cysts or implantation cysts and are quite distinct from “sebaceous,” epidermal, or epidermoid cysts. An inclusion cyst results from traumatic implantation of surface adnexal structures (eg, sebaceous glands) that continue to function, eventuating in the formation of an organized sac whose wall is composed of stratified squamous epithelium with a granular layer, no significant atypia, and surrounding pasty lamellated acellular keratin.

Hands are the most commonly affected area, although the precipitating puncture wound doesn’t have to be as impressive as this patient’s was. Nails and sewing needles can produce the same result.

The patient’s lesion was removed, at which point its pasty contents (a diagnostic clue) were revealed, and the wound closed. Although the absence of redness or tenderness helped to rule out some items in the differential (eg, felon, abscess), and the lesion demonstrated clear cystic features, the specimen was sent for pathologic examination for confirmation, since cancer would also belong in the differential for such a lesion.

ANSWER

The correct answer is inclusion cyst (choice “c”).

DISCUSSION

Inclusion cysts are also called traumatic inclusion cysts or implantation cysts and are quite distinct from “sebaceous,” epidermal, or epidermoid cysts. An inclusion cyst results from traumatic implantation of surface adnexal structures (eg, sebaceous glands) that continue to function, eventuating in the formation of an organized sac whose wall is composed of stratified squamous epithelium with a granular layer, no significant atypia, and surrounding pasty lamellated acellular keratin.

Hands are the most commonly affected area, although the precipitating puncture wound doesn’t have to be as impressive as this patient’s was. Nails and sewing needles can produce the same result.

The patient’s lesion was removed, at which point its pasty contents (a diagnostic clue) were revealed, and the wound closed. Although the absence of redness or tenderness helped to rule out some items in the differential (eg, felon, abscess), and the lesion demonstrated clear cystic features, the specimen was sent for pathologic examination for confirmation, since cancer would also belong in the differential for such a lesion.

ANSWER

The correct answer is inclusion cyst (choice “c”).

DISCUSSION

Inclusion cysts are also called traumatic inclusion cysts or implantation cysts and are quite distinct from “sebaceous,” epidermal, or epidermoid cysts. An inclusion cyst results from traumatic implantation of surface adnexal structures (eg, sebaceous glands) that continue to function, eventuating in the formation of an organized sac whose wall is composed of stratified squamous epithelium with a granular layer, no significant atypia, and surrounding pasty lamellated acellular keratin.

Hands are the most commonly affected area, although the precipitating puncture wound doesn’t have to be as impressive as this patient’s was. Nails and sewing needles can produce the same result.

The patient’s lesion was removed, at which point its pasty contents (a diagnostic clue) were revealed, and the wound closed. Although the absence of redness or tenderness helped to rule out some items in the differential (eg, felon, abscess), and the lesion demonstrated clear cystic features, the specimen was sent for pathologic examination for confirmation, since cancer would also belong in the differential for such a lesion.

Numerous morphologies of skin rashes have been described in the setting of COVID-19, including pernio, livedoid rash, exanthem, and vasculitis. This classic constellation of symptoms (palpable purpura on buttocks/legs, abdominal pain, arthralgia, hematuria) is highly consistent with Henoch-Schonlein purpura (HSP). There are now multiple case reports of COVID-19–associated HSP.

HSP is the most common type of childhood systemic vasculitis. It is mediated by immunoglobulin A (IgA) immune complex deposition and has been associated with respiratory tract infections, streptococcal species, parainfluenza virus, and human parvovirus B19, medications, vaccinations, and malignancies. HSP is usually a self-limiting disease, with a course over 4-6 weeks, and can affect multiple organs, including the skin, gastrointestinal tract, joints, and the kidneys. The diagnostic criteria include palpable purpura in the presence of one or more of the following: diffuse abdominal pain, arthritis or arthralgia, any biopsy showing predominant IgA deposition, and renal involvement in the form of hematuria or proteinuria. Renal disease is variable and is the most significant indicator of long-term prognosis. This teenager was treated with oral corticosteroids because of the severe periarticular edema and responded rapidly. His subsequent urine analyses normalized.
 

What is on the differential?

Multisystem inflammatory syndrome in children (MIS-C) is a rare, potentially fatal, complication of COVID-19 infection that causes inflammation of multiple organs, including the heart, lungs, kidneys, brain, skin, eyes, or the gastrointestinal tract. It commonly affects children around ages 8-9 years. Initial symptoms include fever, rash, red eyes, diarrhea, and vomiting that appear 2-6 weeks post COVID-19 infection. Like HSP, MIS-C can present with edema of the extremities, worsening hand/foot pain, and hematuria; however, the absence of both fever and the pattern of system involvement seen with MIS-C and classic findings in this patient are more consistent with HSP.

Reactive infectious mucocutaneous eruption (RIME) was recently coined to encompass both infection-associated Stevens-Johnson eruptions including Mycoplasma pneumoniae-induced rash and mucositis (MIRM) and mucocutaneous eruptions caused by nonmycoplasma pathogens (including Chlamydia pneumoniae, human parainfluenza virus 2, rhinovirus, adenovirus, enterovirus, human metapneumovirus, influenza B virus, and COVID-19). It is usually seen in male children and adolescents. Prodromal symptoms include cough, fever, and malaise and they precede the prominent feature of mucositis. Our patient’s lack of mucosal involvement is not consistent with RIME.

Perniosis (chilblains) is characterized by localized edematous patches of erythema or cyanosis on exposed extremities, that may be associated with cold exposure. Lesions are usually symmetric and self-limiting, and symptoms can include numbness, tingling, pruritus, burning, or pain. Pernio-like skin lesions have been seen during the COVID-19 pandemic, though many patients have negative testing for infection by PCR and serology. Pernio may also be seen with autoimmune diseases or malignancy.

Meningococcemia is a rare disease caused by infection with gram-negative diplococci bacteria Neisseria meningitidis and spreads through saliva or respiratory secretions. Its clinical presentation can vary widely, from transient fever to fulminant disease. It is characterized by upper respiratory tract infection, fever, and petechial lesions associated with thrombocytopenia and coagulopathy.
 

Dr. Eichenfield is vice chair of the department of dermatology and professor of dermatology and pediatrics at the University of California, San Diego, and Rady Children’s Hospital, San Diego. Ms. Laborada is a pediatric dermatology research associate in the division of pediatric and adolescent dermatology at the University of California, San Diego, and Rady Children’s Hospital. Dr. Eichenfield and Ms. Laborada have no relevant financial disclosures.

References

AlGhoozi DA, AlKhayyat HM. BMJ Case Reports CP 2021;14:e239910.

Jacobi M et al. Pediatr Infect Dis J. 2021;40(2):e93-4.

Paller A, Mancini AJ. Hurwitz clinical pediatric dermatology: A textbook of skin disorders of childhood and adolescence. 4th ed. Philadelphia (PA): Elsevier Saunders; 2011.

Radia T et al. Paediatr Respir Rev. 2021;38:51-7.

Ramien ML. Clin Exp Dermatol. 2021;46(3):420-9.

Numerous morphologies of skin rashes have been described in the setting of COVID-19, including pernio, livedoid rash, exanthem, and vasculitis. This classic constellation of symptoms (palpable purpura on buttocks/legs, abdominal pain, arthralgia, hematuria) is highly consistent with Henoch-Schonlein purpura (HSP). There are now multiple case reports of COVID-19–associated HSP.

HSP is the most common type of childhood systemic vasculitis. It is mediated by immunoglobulin A (IgA) immune complex deposition and has been associated with respiratory tract infections, streptococcal species, parainfluenza virus, and human parvovirus B19, medications, vaccinations, and malignancies. HSP is usually a self-limiting disease, with a course over 4-6 weeks, and can affect multiple organs, including the skin, gastrointestinal tract, joints, and the kidneys. The diagnostic criteria include palpable purpura in the presence of one or more of the following: diffuse abdominal pain, arthritis or arthralgia, any biopsy showing predominant IgA deposition, and renal involvement in the form of hematuria or proteinuria. Renal disease is variable and is the most significant indicator of long-term prognosis. This teenager was treated with oral corticosteroids because of the severe periarticular edema and responded rapidly. His subsequent urine analyses normalized.
 

What is on the differential?

Multisystem inflammatory syndrome in children (MIS-C) is a rare, potentially fatal, complication of COVID-19 infection that causes inflammation of multiple organs, including the heart, lungs, kidneys, brain, skin, eyes, or the gastrointestinal tract. It commonly affects children around ages 8-9 years. Initial symptoms include fever, rash, red eyes, diarrhea, and vomiting that appear 2-6 weeks post COVID-19 infection. Like HSP, MIS-C can present with edema of the extremities, worsening hand/foot pain, and hematuria; however, the absence of both fever and the pattern of system involvement seen with MIS-C and classic findings in this patient are more consistent with HSP.

Reactive infectious mucocutaneous eruption (RIME) was recently coined to encompass both infection-associated Stevens-Johnson eruptions including Mycoplasma pneumoniae-induced rash and mucositis (MIRM) and mucocutaneous eruptions caused by nonmycoplasma pathogens (including Chlamydia pneumoniae, human parainfluenza virus 2, rhinovirus, adenovirus, enterovirus, human metapneumovirus, influenza B virus, and COVID-19). It is usually seen in male children and adolescents. Prodromal symptoms include cough, fever, and malaise and they precede the prominent feature of mucositis. Our patient’s lack of mucosal involvement is not consistent with RIME.

Perniosis (chilblains) is characterized by localized edematous patches of erythema or cyanosis on exposed extremities, that may be associated with cold exposure. Lesions are usually symmetric and self-limiting, and symptoms can include numbness, tingling, pruritus, burning, or pain. Pernio-like skin lesions have been seen during the COVID-19 pandemic, though many patients have negative testing for infection by PCR and serology. Pernio may also be seen with autoimmune diseases or malignancy.

Meningococcemia is a rare disease caused by infection with gram-negative diplococci bacteria Neisseria meningitidis and spreads through saliva or respiratory secretions. Its clinical presentation can vary widely, from transient fever to fulminant disease. It is characterized by upper respiratory tract infection, fever, and petechial lesions associated with thrombocytopenia and coagulopathy.
 

Dr. Eichenfield is vice chair of the department of dermatology and professor of dermatology and pediatrics at the University of California, San Diego, and Rady Children’s Hospital, San Diego. Ms. Laborada is a pediatric dermatology research associate in the division of pediatric and adolescent dermatology at the University of California, San Diego, and Rady Children’s Hospital. Dr. Eichenfield and Ms. Laborada have no relevant financial disclosures.

References

AlGhoozi DA, AlKhayyat HM. BMJ Case Reports CP 2021;14:e239910.

Jacobi M et al. Pediatr Infect Dis J. 2021;40(2):e93-4.

Paller A, Mancini AJ. Hurwitz clinical pediatric dermatology: A textbook of skin disorders of childhood and adolescence. 4th ed. Philadelphia (PA): Elsevier Saunders; 2011.

Radia T et al. Paediatr Respir Rev. 2021;38:51-7.

Ramien ML. Clin Exp Dermatol. 2021;46(3):420-9.

Numerous morphologies of skin rashes have been described in the setting of COVID-19, including pernio, livedoid rash, exanthem, and vasculitis. This classic constellation of symptoms (palpable purpura on buttocks/legs, abdominal pain, arthralgia, hematuria) is highly consistent with Henoch-Schonlein purpura (HSP). There are now multiple case reports of COVID-19–associated HSP.

HSP is the most common type of childhood systemic vasculitis. It is mediated by immunoglobulin A (IgA) immune complex deposition and has been associated with respiratory tract infections, streptococcal species, parainfluenza virus, and human parvovirus B19, medications, vaccinations, and malignancies. HSP is usually a self-limiting disease, with a course over 4-6 weeks, and can affect multiple organs, including the skin, gastrointestinal tract, joints, and the kidneys. The diagnostic criteria include palpable purpura in the presence of one or more of the following: diffuse abdominal pain, arthritis or arthralgia, any biopsy showing predominant IgA deposition, and renal involvement in the form of hematuria or proteinuria. Renal disease is variable and is the most significant indicator of long-term prognosis. This teenager was treated with oral corticosteroids because of the severe periarticular edema and responded rapidly. His subsequent urine analyses normalized.
 

What is on the differential?

Multisystem inflammatory syndrome in children (MIS-C) is a rare, potentially fatal, complication of COVID-19 infection that causes inflammation of multiple organs, including the heart, lungs, kidneys, brain, skin, eyes, or the gastrointestinal tract. It commonly affects children around ages 8-9 years. Initial symptoms include fever, rash, red eyes, diarrhea, and vomiting that appear 2-6 weeks post COVID-19 infection. Like HSP, MIS-C can present with edema of the extremities, worsening hand/foot pain, and hematuria; however, the absence of both fever and the pattern of system involvement seen with MIS-C and classic findings in this patient are more consistent with HSP.

Reactive infectious mucocutaneous eruption (RIME) was recently coined to encompass both infection-associated Stevens-Johnson eruptions including Mycoplasma pneumoniae-induced rash and mucositis (MIRM) and mucocutaneous eruptions caused by nonmycoplasma pathogens (including Chlamydia pneumoniae, human parainfluenza virus 2, rhinovirus, adenovirus, enterovirus, human metapneumovirus, influenza B virus, and COVID-19). It is usually seen in male children and adolescents. Prodromal symptoms include cough, fever, and malaise and they precede the prominent feature of mucositis. Our patient’s lack of mucosal involvement is not consistent with RIME.

Perniosis (chilblains) is characterized by localized edematous patches of erythema or cyanosis on exposed extremities, that may be associated with cold exposure. Lesions are usually symmetric and self-limiting, and symptoms can include numbness, tingling, pruritus, burning, or pain. Pernio-like skin lesions have been seen during the COVID-19 pandemic, though many patients have negative testing for infection by PCR and serology. Pernio may also be seen with autoimmune diseases or malignancy.

Meningococcemia is a rare disease caused by infection with gram-negative diplococci bacteria Neisseria meningitidis and spreads through saliva or respiratory secretions. Its clinical presentation can vary widely, from transient fever to fulminant disease. It is characterized by upper respiratory tract infection, fever, and petechial lesions associated with thrombocytopenia and coagulopathy.
 

Dr. Eichenfield is vice chair of the department of dermatology and professor of dermatology and pediatrics at the University of California, San Diego, and Rady Children’s Hospital, San Diego. Ms. Laborada is a pediatric dermatology research associate in the division of pediatric and adolescent dermatology at the University of California, San Diego, and Rady Children’s Hospital. Dr. Eichenfield and Ms. Laborada have no relevant financial disclosures.

References

AlGhoozi DA, AlKhayyat HM. BMJ Case Reports CP 2021;14:e239910.

Jacobi M et al. Pediatr Infect Dis J. 2021;40(2):e93-4.

Paller A, Mancini AJ. Hurwitz clinical pediatric dermatology: A textbook of skin disorders of childhood and adolescence. 4th ed. Philadelphia (PA): Elsevier Saunders; 2011.

Radia T et al. Paediatr Respir Rev. 2021;38:51-7.

Ramien ML. Clin Exp Dermatol. 2021;46(3):420-9.

Striae gravidarum (SG) – or pregnancy stretch marks – are a source of distress and embarrassment for many women, similar in that respect to acne, psoriasis, or eczema, according to a new study.

In the study of healthy pregnant women, “we found that SG can be associated with a host of negative reactions reflecting increased psychological and emotional distress,” reported Kaveri Karhade, MD, from the Berman Skin Institute, Los Altos, Calif., and coauthors from the University of Michigan, Ann Arbor. Dr. Karhade was with the department of dermatology at the University of Michigan at the time the study was conducted.

“We suggest that health care providers should avoid thinking of SG as merely a cosmetic ‘nuisance,’ ” they wrote in an article published in the International Journal of Women’s Dermatology. “Instead, it would be reasonable for providers to approach SG like other dermatologic concerns, and to consider asking patients whether SG cause emotional distress and whether prevention or treatment strategies should be attempted, even if not completely effective and potentially costly.”

The investigators did not evaluate treatments, but Frank Wang, MD, senior author of the study and professor of clinical dermatology at the University of Michigan Medicine, said in an interview that, “while they aren’t completely effective, some treatments can still help.” In addition, “recommending something also shows that you are listening to patients’ concerns – taking their concerns and skin lesions seriously,” he said.
 

Patient survey

The authors conducted a cross-sectional survey of 116 healthy pregnant women with SG. Participants were asked about the emotional and psychological effects of the lesions and how SG affects quality of life. The survey was modeled on questions from the Dermatology Life Quality Index, which asks about the impact of skin disease on embarrassment/self-consciousness, clothing choice, leisure activities, and interpersonal problems. “Content of questions was also devised from direct discussion with pregnant women attending clinic appointments or participating in other research studies on SG at our institution, and discussion with expert colleagues in obstetrics and dermatology,” the authors explained.

The survey consisted of 35 questions concerning demographics, pregnancy characteristics, personal and family history of SG, specific physical concerns about SG, impact of SG on attitude toward pregnancy, willingness to prevent SG or seek treatment, severity of SG (self-evaluated), the impact of SG on specific life-quality facets, and the location of lesions.

About two-thirds of respondents were aged 25-36 years and were White; the remainder self-identified as Asian, Black, Native American, or “other.” Most women reported “average” weight gain during the current pregnancy. Almost half of participants (45%) reporting a history of SG from prior pregnancies, and 65% reported a family history of SG.

The abdomen was identified most frequently as the location of SG (75%), followed by the breasts (43%), hips (43%), thighs (36%), buttocks (19%), and other areas (6%).

For most women (75%), permanency of the lesions was their top concern. About half (51%) reported that they had attempted to prevent SG, mostly with topical creams or oils. Three-quarters (75%) expressed interest in seeking treatment for SG, but this percentage dropped significantly to 33% (P =.008) if that treatment would not be covered by insurance.

Regarding the psychological impact of SG, embarrassment/self-consciousness correlated most strongly with lesion severity, followed by general quality of life, impact on choice of attire, impact on self-image/self-esteem, feelings of anxiety/depression related to SG, alteration of social/leisure activities related to SG (all P < .0001), and creation of interpersonal problems related to SG (P = .02).

The investigators also found that an increase in the effect of SG on self-image/self-esteem was “moderately associated” with younger age (P < .001) and that increased embarrassment related to SG was “moderately associated” with weight gain during pregnancy (P < .001).

“For years, stretch marks have been a topic to avoid and something many women try to hide,” Timothy Johnson, MD, professor of obstetrics and gynecology at the University of Michigan and coauthor of the study, said in a press release from the university. “Pregnant women talk about stretch marks with me every single week at clinic, and it’s time we break the stigma and start talking about them openly with all patients. ... By doing this study, we have an opportunity to normalize stretch marks in the context of all other dermatological conditions.”

Asked to comment on the findings, Tina Alster, MD, director of the Washington Institute of Dermatologic Laser Surgery and clinical professor of dermatology at Georgetown University, Washington, said her 3 decades of clinical experience support the authors’ findings. “Most patients who have striae are very self-conscious about them and report that their presence has negatively impacted their quality of life and self-confidence,” she said in an interview. “Of course, patients who come to my office are interested in having them treated, so my patient subset is skewed.”

She said treatment strategies that she discusses with patients include topical retinol/retinoids, which she said provide “low clinical response”; microneedling, which provides “marked” clinical response; and nonablative laser treatment, which provides “good” clinical response.

Considering particular patient characteristics, including budget, Dr. Alster said, “For those on a limited budget, I would propose daily use of a topical retinol, despite the low clinical effect. Many retinol-containing products are available over the counter. Prescription-strength retinoic acid tends to be pricey, often costing as much as in-office treatments.” Medical microneedling (not the cosmetic “roller” microneedling performed by aestheticians), she added, “gives the best results for the money and produces clinical results that mirror those achieved with lasers.”

Dr. Wang agreed that even recommending less expensive and less efficacious options such as over-the-counter creams can help alleviate patients’ concerns. “It shows that you are being holistic – not just caring for medical issues around pregnancy, but that you also take the emotional/psychological concerns of pregnant individuals and new parents seriously and that you recognize the impact of skin problems on quality of life. In the end, recommending something – in other words, providing some options, like creams or other therapies, for instance – is still, in my opinion, better than not recommending anything.”

Dr. Wang is involved with a study that is currently enrolling patients and that is evaluating the formation of early SG, which includes performing skin biopsies as soon as lesions appear.

The study had no funding. The study authors and Dr. Alster disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Striae gravidarum (SG) – or pregnancy stretch marks – are a source of distress and embarrassment for many women, similar in that respect to acne, psoriasis, or eczema, according to a new study.

In the study of healthy pregnant women, “we found that SG can be associated with a host of negative reactions reflecting increased psychological and emotional distress,” reported Kaveri Karhade, MD, from the Berman Skin Institute, Los Altos, Calif., and coauthors from the University of Michigan, Ann Arbor. Dr. Karhade was with the department of dermatology at the University of Michigan at the time the study was conducted.

“We suggest that health care providers should avoid thinking of SG as merely a cosmetic ‘nuisance,’ ” they wrote in an article published in the International Journal of Women’s Dermatology. “Instead, it would be reasonable for providers to approach SG like other dermatologic concerns, and to consider asking patients whether SG cause emotional distress and whether prevention or treatment strategies should be attempted, even if not completely effective and potentially costly.”

The investigators did not evaluate treatments, but Frank Wang, MD, senior author of the study and professor of clinical dermatology at the University of Michigan Medicine, said in an interview that, “while they aren’t completely effective, some treatments can still help.” In addition, “recommending something also shows that you are listening to patients’ concerns – taking their concerns and skin lesions seriously,” he said.
 

Patient survey

The authors conducted a cross-sectional survey of 116 healthy pregnant women with SG. Participants were asked about the emotional and psychological effects of the lesions and how SG affects quality of life. The survey was modeled on questions from the Dermatology Life Quality Index, which asks about the impact of skin disease on embarrassment/self-consciousness, clothing choice, leisure activities, and interpersonal problems. “Content of questions was also devised from direct discussion with pregnant women attending clinic appointments or participating in other research studies on SG at our institution, and discussion with expert colleagues in obstetrics and dermatology,” the authors explained.

The survey consisted of 35 questions concerning demographics, pregnancy characteristics, personal and family history of SG, specific physical concerns about SG, impact of SG on attitude toward pregnancy, willingness to prevent SG or seek treatment, severity of SG (self-evaluated), the impact of SG on specific life-quality facets, and the location of lesions.

About two-thirds of respondents were aged 25-36 years and were White; the remainder self-identified as Asian, Black, Native American, or “other.” Most women reported “average” weight gain during the current pregnancy. Almost half of participants (45%) reporting a history of SG from prior pregnancies, and 65% reported a family history of SG.

The abdomen was identified most frequently as the location of SG (75%), followed by the breasts (43%), hips (43%), thighs (36%), buttocks (19%), and other areas (6%).

For most women (75%), permanency of the lesions was their top concern. About half (51%) reported that they had attempted to prevent SG, mostly with topical creams or oils. Three-quarters (75%) expressed interest in seeking treatment for SG, but this percentage dropped significantly to 33% (P =.008) if that treatment would not be covered by insurance.

Regarding the psychological impact of SG, embarrassment/self-consciousness correlated most strongly with lesion severity, followed by general quality of life, impact on choice of attire, impact on self-image/self-esteem, feelings of anxiety/depression related to SG, alteration of social/leisure activities related to SG (all P < .0001), and creation of interpersonal problems related to SG (P = .02).

The investigators also found that an increase in the effect of SG on self-image/self-esteem was “moderately associated” with younger age (P < .001) and that increased embarrassment related to SG was “moderately associated” with weight gain during pregnancy (P < .001).

“For years, stretch marks have been a topic to avoid and something many women try to hide,” Timothy Johnson, MD, professor of obstetrics and gynecology at the University of Michigan and coauthor of the study, said in a press release from the university. “Pregnant women talk about stretch marks with me every single week at clinic, and it’s time we break the stigma and start talking about them openly with all patients. ... By doing this study, we have an opportunity to normalize stretch marks in the context of all other dermatological conditions.”

Asked to comment on the findings, Tina Alster, MD, director of the Washington Institute of Dermatologic Laser Surgery and clinical professor of dermatology at Georgetown University, Washington, said her 3 decades of clinical experience support the authors’ findings. “Most patients who have striae are very self-conscious about them and report that their presence has negatively impacted their quality of life and self-confidence,” she said in an interview. “Of course, patients who come to my office are interested in having them treated, so my patient subset is skewed.”

She said treatment strategies that she discusses with patients include topical retinol/retinoids, which she said provide “low clinical response”; microneedling, which provides “marked” clinical response; and nonablative laser treatment, which provides “good” clinical response.

Considering particular patient characteristics, including budget, Dr. Alster said, “For those on a limited budget, I would propose daily use of a topical retinol, despite the low clinical effect. Many retinol-containing products are available over the counter. Prescription-strength retinoic acid tends to be pricey, often costing as much as in-office treatments.” Medical microneedling (not the cosmetic “roller” microneedling performed by aestheticians), she added, “gives the best results for the money and produces clinical results that mirror those achieved with lasers.”

Dr. Wang agreed that even recommending less expensive and less efficacious options such as over-the-counter creams can help alleviate patients’ concerns. “It shows that you are being holistic – not just caring for medical issues around pregnancy, but that you also take the emotional/psychological concerns of pregnant individuals and new parents seriously and that you recognize the impact of skin problems on quality of life. In the end, recommending something – in other words, providing some options, like creams or other therapies, for instance – is still, in my opinion, better than not recommending anything.”

Dr. Wang is involved with a study that is currently enrolling patients and that is evaluating the formation of early SG, which includes performing skin biopsies as soon as lesions appear.

The study had no funding. The study authors and Dr. Alster disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Striae gravidarum (SG) – or pregnancy stretch marks – are a source of distress and embarrassment for many women, similar in that respect to acne, psoriasis, or eczema, according to a new study.

In the study of healthy pregnant women, “we found that SG can be associated with a host of negative reactions reflecting increased psychological and emotional distress,” reported Kaveri Karhade, MD, from the Berman Skin Institute, Los Altos, Calif., and coauthors from the University of Michigan, Ann Arbor. Dr. Karhade was with the department of dermatology at the University of Michigan at the time the study was conducted.

“We suggest that health care providers should avoid thinking of SG as merely a cosmetic ‘nuisance,’ ” they wrote in an article published in the International Journal of Women’s Dermatology. “Instead, it would be reasonable for providers to approach SG like other dermatologic concerns, and to consider asking patients whether SG cause emotional distress and whether prevention or treatment strategies should be attempted, even if not completely effective and potentially costly.”

The investigators did not evaluate treatments, but Frank Wang, MD, senior author of the study and professor of clinical dermatology at the University of Michigan Medicine, said in an interview that, “while they aren’t completely effective, some treatments can still help.” In addition, “recommending something also shows that you are listening to patients’ concerns – taking their concerns and skin lesions seriously,” he said.
 

Patient survey

The authors conducted a cross-sectional survey of 116 healthy pregnant women with SG. Participants were asked about the emotional and psychological effects of the lesions and how SG affects quality of life. The survey was modeled on questions from the Dermatology Life Quality Index, which asks about the impact of skin disease on embarrassment/self-consciousness, clothing choice, leisure activities, and interpersonal problems. “Content of questions was also devised from direct discussion with pregnant women attending clinic appointments or participating in other research studies on SG at our institution, and discussion with expert colleagues in obstetrics and dermatology,” the authors explained.

The survey consisted of 35 questions concerning demographics, pregnancy characteristics, personal and family history of SG, specific physical concerns about SG, impact of SG on attitude toward pregnancy, willingness to prevent SG or seek treatment, severity of SG (self-evaluated), the impact of SG on specific life-quality facets, and the location of lesions.

About two-thirds of respondents were aged 25-36 years and were White; the remainder self-identified as Asian, Black, Native American, or “other.” Most women reported “average” weight gain during the current pregnancy. Almost half of participants (45%) reporting a history of SG from prior pregnancies, and 65% reported a family history of SG.

The abdomen was identified most frequently as the location of SG (75%), followed by the breasts (43%), hips (43%), thighs (36%), buttocks (19%), and other areas (6%).

For most women (75%), permanency of the lesions was their top concern. About half (51%) reported that they had attempted to prevent SG, mostly with topical creams or oils. Three-quarters (75%) expressed interest in seeking treatment for SG, but this percentage dropped significantly to 33% (P =.008) if that treatment would not be covered by insurance.

Regarding the psychological impact of SG, embarrassment/self-consciousness correlated most strongly with lesion severity, followed by general quality of life, impact on choice of attire, impact on self-image/self-esteem, feelings of anxiety/depression related to SG, alteration of social/leisure activities related to SG (all P < .0001), and creation of interpersonal problems related to SG (P = .02).

The investigators also found that an increase in the effect of SG on self-image/self-esteem was “moderately associated” with younger age (P < .001) and that increased embarrassment related to SG was “moderately associated” with weight gain during pregnancy (P < .001).

“For years, stretch marks have been a topic to avoid and something many women try to hide,” Timothy Johnson, MD, professor of obstetrics and gynecology at the University of Michigan and coauthor of the study, said in a press release from the university. “Pregnant women talk about stretch marks with me every single week at clinic, and it’s time we break the stigma and start talking about them openly with all patients. ... By doing this study, we have an opportunity to normalize stretch marks in the context of all other dermatological conditions.”

Asked to comment on the findings, Tina Alster, MD, director of the Washington Institute of Dermatologic Laser Surgery and clinical professor of dermatology at Georgetown University, Washington, said her 3 decades of clinical experience support the authors’ findings. “Most patients who have striae are very self-conscious about them and report that their presence has negatively impacted their quality of life and self-confidence,” she said in an interview. “Of course, patients who come to my office are interested in having them treated, so my patient subset is skewed.”

She said treatment strategies that she discusses with patients include topical retinol/retinoids, which she said provide “low clinical response”; microneedling, which provides “marked” clinical response; and nonablative laser treatment, which provides “good” clinical response.

Considering particular patient characteristics, including budget, Dr. Alster said, “For those on a limited budget, I would propose daily use of a topical retinol, despite the low clinical effect. Many retinol-containing products are available over the counter. Prescription-strength retinoic acid tends to be pricey, often costing as much as in-office treatments.” Medical microneedling (not the cosmetic “roller” microneedling performed by aestheticians), she added, “gives the best results for the money and produces clinical results that mirror those achieved with lasers.”

Dr. Wang agreed that even recommending less expensive and less efficacious options such as over-the-counter creams can help alleviate patients’ concerns. “It shows that you are being holistic – not just caring for medical issues around pregnancy, but that you also take the emotional/psychological concerns of pregnant individuals and new parents seriously and that you recognize the impact of skin problems on quality of life. In the end, recommending something – in other words, providing some options, like creams or other therapies, for instance – is still, in my opinion, better than not recommending anything.”

Dr. Wang is involved with a study that is currently enrolling patients and that is evaluating the formation of early SG, which includes performing skin biopsies as soon as lesions appear.

The study had no funding. The study authors and Dr. Alster disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Despite the clinical value of medical devices, there is a potential for these products to cause adverse skin reactions in some patients. Findings from a European retrospective study, published in the European Journal of Allergy and Clinical Immunology, show that nearly one-quarter of patients with suspected allergic contact dermatitis were referred for patch testing for contact allergies associated with medical devices, highlighting the possibility of a high prevalence of contact allergens in these devices.

“We found it important to publish these findings, because up until now no clear figures have been reported regarding this particular clinical problem,” said study author Olivier Aerts, MD, a researcher in the contact allergy unit at the University Hospital Antwerp, Belgium, in an interview with this news organization.

For the study, Dr. Aerts and colleagues conducted a retrospective analysis of medical device users with suspected allergic contact dermatitis. All patients had been patch tested at a tertiary European clinic between 2018 and 2020.

The cohort included patients who experienced suspected contact allergy from medical adhesives (n = 57), gloves (n = 38), topical and surface medical devices (n = 38), glucose sensors and insulin pumps (n = 74), and prostheses (n = 75). Other medical products associated with contact allergy in another 44 patients included surgical glues, face masks, compression stockings, condoms, and suture materials.

Overall, 326 patients had been patch-tested during the 30-month study period. Approximately 25.8% of all patients – including 299 adults and 27 children – were referred for contact allergy associated with medical devices.

Acrylates were the most frequently encountered contact allergens and were found in diabetes devices and medical adhesives. Potential skin sensitizers included colophonium-related substances, D-limonene, isothiazolinone derivatives, salicylates, and sulphites, all of which were identified across most products.

According to the investigators, many of the labels for the medical devices made no mention of the potential skin sensitizers, except in the cases of some topical and surface disinfectants. And many topical products are often marketed as medical devices rather than cosmetics, further complicating labeling issues, according to Dr. Aerts.

“What should be done to help any patient suffering from allergic contact due to medical devices is that these devices should be labeled with all their components, or at the very least with the potential skin sensitizers these may contain,” Dr. Aerts explained. He added that manufacturers should “establish more cooperation with physicians/dermatologists who evaluate such patients,” a cooperation that often exists with cosmetic companies.

Dr. Aerts noted that while it’s important for patch testers and dermatologists to be aware of the prevalence of allergic contact dermatitis in medical device users, companies producing these devices should also be aware of these potential issues. “Additionally, legislators/regulators should perhaps focus some more on the cutaneous side effects these products may provoke,” he said, “as this awareness may hopefully also serve as a stimulant to perform more clinical allergy research in this field.”

Leonard Bielory, MD, an allergist at Robert Wood Johnson University Hospital in Rahway, New Jersey, told this news organization that the findings are “alarming” and should heighten clinicians’ awareness of the possibility of allergic contact dermatitis among medical device users.

Dr. Bielory, who wasn’t involved in the research, noted that the findings from this study may not be entirely generalizable to the U.S., given the study was performed in Europe. “In contrast to other countries, the U.S. is very conscientious about allergic responses to items being used in hospitals,” he added, “or such that the issue here is that many of these things would be an adverse reaction, which you have to report.” He suggested that further research in this field is needed to determine the prevalence of possible skin sensitizers in products specifically developed and marketed in the U.S.

The study had no specific funding. Dr. Aerts and Dr. Bielory have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Despite the clinical value of medical devices, there is a potential for these products to cause adverse skin reactions in some patients. Findings from a European retrospective study, published in the European Journal of Allergy and Clinical Immunology, show that nearly one-quarter of patients with suspected allergic contact dermatitis were referred for patch testing for contact allergies associated with medical devices, highlighting the possibility of a high prevalence of contact allergens in these devices.

“We found it important to publish these findings, because up until now no clear figures have been reported regarding this particular clinical problem,” said study author Olivier Aerts, MD, a researcher in the contact allergy unit at the University Hospital Antwerp, Belgium, in an interview with this news organization.

For the study, Dr. Aerts and colleagues conducted a retrospective analysis of medical device users with suspected allergic contact dermatitis. All patients had been patch tested at a tertiary European clinic between 2018 and 2020.

The cohort included patients who experienced suspected contact allergy from medical adhesives (n = 57), gloves (n = 38), topical and surface medical devices (n = 38), glucose sensors and insulin pumps (n = 74), and prostheses (n = 75). Other medical products associated with contact allergy in another 44 patients included surgical glues, face masks, compression stockings, condoms, and suture materials.

Overall, 326 patients had been patch-tested during the 30-month study period. Approximately 25.8% of all patients – including 299 adults and 27 children – were referred for contact allergy associated with medical devices.

Acrylates were the most frequently encountered contact allergens and were found in diabetes devices and medical adhesives. Potential skin sensitizers included colophonium-related substances, D-limonene, isothiazolinone derivatives, salicylates, and sulphites, all of which were identified across most products.

According to the investigators, many of the labels for the medical devices made no mention of the potential skin sensitizers, except in the cases of some topical and surface disinfectants. And many topical products are often marketed as medical devices rather than cosmetics, further complicating labeling issues, according to Dr. Aerts.

“What should be done to help any patient suffering from allergic contact due to medical devices is that these devices should be labeled with all their components, or at the very least with the potential skin sensitizers these may contain,” Dr. Aerts explained. He added that manufacturers should “establish more cooperation with physicians/dermatologists who evaluate such patients,” a cooperation that often exists with cosmetic companies.

Dr. Aerts noted that while it’s important for patch testers and dermatologists to be aware of the prevalence of allergic contact dermatitis in medical device users, companies producing these devices should also be aware of these potential issues. “Additionally, legislators/regulators should perhaps focus some more on the cutaneous side effects these products may provoke,” he said, “as this awareness may hopefully also serve as a stimulant to perform more clinical allergy research in this field.”

Leonard Bielory, MD, an allergist at Robert Wood Johnson University Hospital in Rahway, New Jersey, told this news organization that the findings are “alarming” and should heighten clinicians’ awareness of the possibility of allergic contact dermatitis among medical device users.

Dr. Bielory, who wasn’t involved in the research, noted that the findings from this study may not be entirely generalizable to the U.S., given the study was performed in Europe. “In contrast to other countries, the U.S. is very conscientious about allergic responses to items being used in hospitals,” he added, “or such that the issue here is that many of these things would be an adverse reaction, which you have to report.” He suggested that further research in this field is needed to determine the prevalence of possible skin sensitizers in products specifically developed and marketed in the U.S.

The study had no specific funding. Dr. Aerts and Dr. Bielory have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Despite the clinical value of medical devices, there is a potential for these products to cause adverse skin reactions in some patients. Findings from a European retrospective study, published in the European Journal of Allergy and Clinical Immunology, show that nearly one-quarter of patients with suspected allergic contact dermatitis were referred for patch testing for contact allergies associated with medical devices, highlighting the possibility of a high prevalence of contact allergens in these devices.

“We found it important to publish these findings, because up until now no clear figures have been reported regarding this particular clinical problem,” said study author Olivier Aerts, MD, a researcher in the contact allergy unit at the University Hospital Antwerp, Belgium, in an interview with this news organization.

For the study, Dr. Aerts and colleagues conducted a retrospective analysis of medical device users with suspected allergic contact dermatitis. All patients had been patch tested at a tertiary European clinic between 2018 and 2020.

The cohort included patients who experienced suspected contact allergy from medical adhesives (n = 57), gloves (n = 38), topical and surface medical devices (n = 38), glucose sensors and insulin pumps (n = 74), and prostheses (n = 75). Other medical products associated with contact allergy in another 44 patients included surgical glues, face masks, compression stockings, condoms, and suture materials.

Overall, 326 patients had been patch-tested during the 30-month study period. Approximately 25.8% of all patients – including 299 adults and 27 children – were referred for contact allergy associated with medical devices.

Acrylates were the most frequently encountered contact allergens and were found in diabetes devices and medical adhesives. Potential skin sensitizers included colophonium-related substances, D-limonene, isothiazolinone derivatives, salicylates, and sulphites, all of which were identified across most products.

According to the investigators, many of the labels for the medical devices made no mention of the potential skin sensitizers, except in the cases of some topical and surface disinfectants. And many topical products are often marketed as medical devices rather than cosmetics, further complicating labeling issues, according to Dr. Aerts.

“What should be done to help any patient suffering from allergic contact due to medical devices is that these devices should be labeled with all their components, or at the very least with the potential skin sensitizers these may contain,” Dr. Aerts explained. He added that manufacturers should “establish more cooperation with physicians/dermatologists who evaluate such patients,” a cooperation that often exists with cosmetic companies.

Dr. Aerts noted that while it’s important for patch testers and dermatologists to be aware of the prevalence of allergic contact dermatitis in medical device users, companies producing these devices should also be aware of these potential issues. “Additionally, legislators/regulators should perhaps focus some more on the cutaneous side effects these products may provoke,” he said, “as this awareness may hopefully also serve as a stimulant to perform more clinical allergy research in this field.”

Leonard Bielory, MD, an allergist at Robert Wood Johnson University Hospital in Rahway, New Jersey, told this news organization that the findings are “alarming” and should heighten clinicians’ awareness of the possibility of allergic contact dermatitis among medical device users.

Dr. Bielory, who wasn’t involved in the research, noted that the findings from this study may not be entirely generalizable to the U.S., given the study was performed in Europe. “In contrast to other countries, the U.S. is very conscientious about allergic responses to items being used in hospitals,” he added, “or such that the issue here is that many of these things would be an adverse reaction, which you have to report.” He suggested that further research in this field is needed to determine the prevalence of possible skin sensitizers in products specifically developed and marketed in the U.S.

The study had no specific funding. Dr. Aerts and Dr. Bielory have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Examination revealed diffusely bordered periumbilical pink to violet scaly plaques consistent with nickel allergic contact dermatitis (Ni-ACD). The patient was wearing a belt with a buckle containing nickel, which had begun dispersing nickel. Her earlobes were also pierced and had similar scale and erythema around the metal earring studs

Ni-ACD is the most common, delayed-type hypersensitivity reaction worldwide. It affects 10% of people in the United States with a strong female predominance and a 4-fold increase in the last 30 years.¹ The induction of nickel delayed-type hypersensitivity has been well-studied and includes nickel corrosion dissolving into a solution and exceeding an immunogenic threshold. Piercing practices, sweat, and friction facilitate this process.

Gold jewelry that’s less than 24 karat, “white gold,” and stainless steel all contain nickel and may cause allergy in sensitized individuals. It’s wise to assume that any shiny metal fashion accessory contains nickel, unless proven otherwise. Items can be tested for the presence of nickel with an inexpensive kit containing dimethylglyoxime.

Symptoms of Ni-ACD may range from mild erythema to thickened and weepy lichenified plaques. Distribution is often present at the site of exposure but may also be seen on the eyelids or hands from nickel transfer. A systematized reaction or id reaction is uncommon but can occur. Allergic contact dermatitis can be distinguished from psoriasis by a fading border rather than a sharp, well-demarcated border.

The patient in this case switched to a nonmetallic belt and earrings with plastic studs. She was prescribed topical triamcinolone cream 0.1% bid for 3 weeks, which led to clearance of her rash.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

Examination revealed diffusely bordered periumbilical pink to violet scaly plaques consistent with nickel allergic contact dermatitis (Ni-ACD). The patient was wearing a belt with a buckle containing nickel, which had begun dispersing nickel. Her earlobes were also pierced and had similar scale and erythema around the metal earring studs

Ni-ACD is the most common, delayed-type hypersensitivity reaction worldwide. It affects 10% of people in the United States with a strong female predominance and a 4-fold increase in the last 30 years.¹ The induction of nickel delayed-type hypersensitivity has been well-studied and includes nickel corrosion dissolving into a solution and exceeding an immunogenic threshold. Piercing practices, sweat, and friction facilitate this process.

Gold jewelry that’s less than 24 karat, “white gold,” and stainless steel all contain nickel and may cause allergy in sensitized individuals. It’s wise to assume that any shiny metal fashion accessory contains nickel, unless proven otherwise. Items can be tested for the presence of nickel with an inexpensive kit containing dimethylglyoxime.

Symptoms of Ni-ACD may range from mild erythema to thickened and weepy lichenified plaques. Distribution is often present at the site of exposure but may also be seen on the eyelids or hands from nickel transfer. A systematized reaction or id reaction is uncommon but can occur. Allergic contact dermatitis can be distinguished from psoriasis by a fading border rather than a sharp, well-demarcated border.

The patient in this case switched to a nonmetallic belt and earrings with plastic studs. She was prescribed topical triamcinolone cream 0.1% bid for 3 weeks, which led to clearance of her rash.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

Examination revealed diffusely bordered periumbilical pink to violet scaly plaques consistent with nickel allergic contact dermatitis (Ni-ACD). The patient was wearing a belt with a buckle containing nickel, which had begun dispersing nickel. Her earlobes were also pierced and had similar scale and erythema around the metal earring studs

Ni-ACD is the most common, delayed-type hypersensitivity reaction worldwide. It affects 10% of people in the United States with a strong female predominance and a 4-fold increase in the last 30 years.¹ The induction of nickel delayed-type hypersensitivity has been well-studied and includes nickel corrosion dissolving into a solution and exceeding an immunogenic threshold. Piercing practices, sweat, and friction facilitate this process.

Gold jewelry that’s less than 24 karat, “white gold,” and stainless steel all contain nickel and may cause allergy in sensitized individuals. It’s wise to assume that any shiny metal fashion accessory contains nickel, unless proven otherwise. Items can be tested for the presence of nickel with an inexpensive kit containing dimethylglyoxime.

Symptoms of Ni-ACD may range from mild erythema to thickened and weepy lichenified plaques. Distribution is often present at the site of exposure but may also be seen on the eyelids or hands from nickel transfer. A systematized reaction or id reaction is uncommon but can occur. Allergic contact dermatitis can be distinguished from psoriasis by a fading border rather than a sharp, well-demarcated border.

The patient in this case switched to a nonmetallic belt and earrings with plastic studs. She was prescribed topical triamcinolone cream 0.1% bid for 3 weeks, which led to clearance of her rash.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

Additional history from the family revealed that they were cleaning the wound with copious amounts of hydrogen peroxide twice a week—a practice that impedes wound healing and was ultimately the cause of this patient’s wound closure delay.

A nonhealing wound should be carefully evaluated to rule out malignancy, infection, or an inflammatory disorder such as pyoderma gangrenosum (PG). In this case, punch biopsies were performed to exclude PG and malignancy, particularly squamous cell carcinoma. Additionally, punch biopsies were performed for bacterial and fungal tissue culture. A complete blood count with differential was obtained to evaluate for signs of infection or hematologic malignancy. All work-ups and biopsies were consistent with a noninfected surgical wound.

Widely available over the counter in 3% to 5% solutions, hydrogen peroxide is used as a low-cost antiseptic for minor cuts and wounds. Data are mixed as to whether hydrogen peroxide improves or impedes wound healing when used outside of initial first aid or postoperatively.¹ At higher concentrations, it uniformly causes skin necrosis. Owing to its debriding effect, it is FDA approved to treat seborrheic keratoses as an alternative to cryotherapy or electrodessication and curettage.

At the time of this work-up, and in the absence of other signs of infection, the patient and family were told to stop using hydrogen peroxide. Care instructions were changed to daily topical petroleum jelly and wound occlusion. Four weeks after wound care changes were made, the wound had re-epithelialized completely and reduced in size by two-thirds.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

Additional history from the family revealed that they were cleaning the wound with copious amounts of hydrogen peroxide twice a week—a practice that impedes wound healing and was ultimately the cause of this patient’s wound closure delay.

A nonhealing wound should be carefully evaluated to rule out malignancy, infection, or an inflammatory disorder such as pyoderma gangrenosum (PG). In this case, punch biopsies were performed to exclude PG and malignancy, particularly squamous cell carcinoma. Additionally, punch biopsies were performed for bacterial and fungal tissue culture. A complete blood count with differential was obtained to evaluate for signs of infection or hematologic malignancy. All work-ups and biopsies were consistent with a noninfected surgical wound.

Widely available over the counter in 3% to 5% solutions, hydrogen peroxide is used as a low-cost antiseptic for minor cuts and wounds. Data are mixed as to whether hydrogen peroxide improves or impedes wound healing when used outside of initial first aid or postoperatively.¹ At higher concentrations, it uniformly causes skin necrosis. Owing to its debriding effect, it is FDA approved to treat seborrheic keratoses as an alternative to cryotherapy or electrodessication and curettage.

At the time of this work-up, and in the absence of other signs of infection, the patient and family were told to stop using hydrogen peroxide. Care instructions were changed to daily topical petroleum jelly and wound occlusion. Four weeks after wound care changes were made, the wound had re-epithelialized completely and reduced in size by two-thirds.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

Additional history from the family revealed that they were cleaning the wound with copious amounts of hydrogen peroxide twice a week—a practice that impedes wound healing and was ultimately the cause of this patient’s wound closure delay.

A nonhealing wound should be carefully evaluated to rule out malignancy, infection, or an inflammatory disorder such as pyoderma gangrenosum (PG). In this case, punch biopsies were performed to exclude PG and malignancy, particularly squamous cell carcinoma. Additionally, punch biopsies were performed for bacterial and fungal tissue culture. A complete blood count with differential was obtained to evaluate for signs of infection or hematologic malignancy. All work-ups and biopsies were consistent with a noninfected surgical wound.

Widely available over the counter in 3% to 5% solutions, hydrogen peroxide is used as a low-cost antiseptic for minor cuts and wounds. Data are mixed as to whether hydrogen peroxide improves or impedes wound healing when used outside of initial first aid or postoperatively.¹ At higher concentrations, it uniformly causes skin necrosis. Owing to its debriding effect, it is FDA approved to treat seborrheic keratoses as an alternative to cryotherapy or electrodessication and curettage.

At the time of this work-up, and in the absence of other signs of infection, the patient and family were told to stop using hydrogen peroxide. Care instructions were changed to daily topical petroleum jelly and wound occlusion. Four weeks after wound care changes were made, the wound had re-epithelialized completely and reduced in size by two-thirds.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

A 17-year-old high school baseball player presented to a sports medicine clinic for left anterior knee pain. During the exam, a hyperpigmented lesion was incidentally noted on his left palm. The patient, who also played basketball and football, was unsure of how long he’d had the lesion, and he did not recall having any prior lesions on his hand. He denied any discomfort or significant past medical history. There was no known family history of skin cancers, but the patient did report that his brother, also an athlete, had a similar lesion on his hand.

On closer examination, scattered black dots were noted within a 2 × 1–cm thickened keratotic plaque at the hypothenar eminence of the patient’s left hand (Figure). There was no tenderness, erythema, warmth, or disruption of normal skin architecture or drainage.

WHAT IS YOUR DIAGNOSIS?
HOW WOULD YOU TREAT THIS PATIENT?

 

 

Diagnosis: Posttraumatic tache noir

Posttraumatic tache noir (also known as talon noir on the volar aspect of the feet) is a subcorneal hematoma. The diagnosis is made clinically.

Identifying “pebbles on a ridge” or “satellite globules” during dermoscopic evaluation can differentiate benign from malignant sources of this type of lesion.

Our patient was a competitive baseball player, and he noted that the knob of his baseball bat rubbed the hypothenar eminence of his nondominant hand when he took a swing. The sheer force of the knob led to the subcorneal hematoma. Tache noir was high on the differential due to the author’s clinical experience with similar cases.

Tache noir occurs predominantly in people ages 12 to 24 years, without regard to gender.¹ The condition is commonly found in athletes who participate in baseball, cricket, racquet sports, weightlifting, and rock climbing.^1-3 Talon noir occurs most commonly in athletes who are frequently jumping, turning, and pivoting, as in football, basketball, tennis, and lacrosse. One should have a high index of suspicion for this diagnosis in patients who participate in any sport that might lead to shearing forces involving the volar aspect of the hands or feet.

Confirmation is obtained through a simple procedure. Dermoscopic evaluation of tache/talon noir will reveal “pebbles on a ridge” or “satellite globules.” Confirmation of tache/talon noir can be made by paring the corneum with a #15 blade, which will reveal blood in the shavings and punctate lesions.⁴

Other lesions may havea similar appearance

Tache noir can be differentiated from other conditions by the presence of preserved architecture of the skin surface and punctate capillaries beneath the stratum corneum. The differential diagnosis includes verruca vulgaris, acral melanoma, and a traumatic tattoo.

Continue to: Verruca vulgaris

Verruca vulgaris similarly contains puncta but typically appears as a raised lesion with a disruption of the stratum corneum.⁵

Acral melanoma can be distinguished from tache/talon noir by dermoscopic evaluation and/or paring of the corneum. On dermoscopic evaluation, both acral melanoma and tache/talon noir will reveal parallel ridge patterns; this finding has an 86% sensitivity and 96% specificity for early acral melanoma.⁶ What differentiates the 2 is the “satellite globules” or “pebbles on a ridge” that are seen with a subcorneal hematoma. Furthermore, paring the corneum would demonstrate an absence of blood within the ridges of the skin shavings, pointing away from tache/talon noir as the diagnosis.^1-3,5-7

Traumatic tattoo can also mimic tache/talon noir, due to foreign-material deposits in the skin (gunpowder, carbon, lead, dirt, and asphalt). A history of penetrating trauma should help to narrow the differential. Attempts at paring with traumatic tattoo may or may not help with differentiation.¹

In this case, time does heal all wounds

Talon/tache noir are benign conditions that do not require treatment and do not affect sports performance. The lesion will usually self-resolve within a matter of weeks from onset or can even be gently scraped with a sterile needle or blade, which can partially or completely remove the pigmentation from within the parallel ridges.^3,5,8

Our patient was advised that the lesion would resolve on its own. His knee pain was determined to be a simple case of patellofemoral syndrome or “runner’s knee” and he opted to complete a home exercise program to obtain relief.

A 17-year-old high school baseball player presented to a sports medicine clinic for left anterior knee pain. During the exam, a hyperpigmented lesion was incidentally noted on his left palm. The patient, who also played basketball and football, was unsure of how long he’d had the lesion, and he did not recall having any prior lesions on his hand. He denied any discomfort or significant past medical history. There was no known family history of skin cancers, but the patient did report that his brother, also an athlete, had a similar lesion on his hand.

On closer examination, scattered black dots were noted within a 2 × 1–cm thickened keratotic plaque at the hypothenar eminence of the patient’s left hand (Figure). There was no tenderness, erythema, warmth, or disruption of normal skin architecture or drainage.

WHAT IS YOUR DIAGNOSIS?
HOW WOULD YOU TREAT THIS PATIENT?

 

 

Diagnosis: Posttraumatic tache noir

Posttraumatic tache noir (also known as talon noir on the volar aspect of the feet) is a subcorneal hematoma. The diagnosis is made clinically.

Identifying “pebbles on a ridge” or “satellite globules” during dermoscopic evaluation can differentiate benign from malignant sources of this type of lesion.

Our patient was a competitive baseball player, and he noted that the knob of his baseball bat rubbed the hypothenar eminence of his nondominant hand when he took a swing. The sheer force of the knob led to the subcorneal hematoma. Tache noir was high on the differential due to the author’s clinical experience with similar cases.

Tache noir occurs predominantly in people ages 12 to 24 years, without regard to gender.¹ The condition is commonly found in athletes who participate in baseball, cricket, racquet sports, weightlifting, and rock climbing.^1-3 Talon noir occurs most commonly in athletes who are frequently jumping, turning, and pivoting, as in football, basketball, tennis, and lacrosse. One should have a high index of suspicion for this diagnosis in patients who participate in any sport that might lead to shearing forces involving the volar aspect of the hands or feet.

Confirmation is obtained through a simple procedure. Dermoscopic evaluation of tache/talon noir will reveal “pebbles on a ridge” or “satellite globules.” Confirmation of tache/talon noir can be made by paring the corneum with a #15 blade, which will reveal blood in the shavings and punctate lesions.⁴

Other lesions may havea similar appearance

Tache noir can be differentiated from other conditions by the presence of preserved architecture of the skin surface and punctate capillaries beneath the stratum corneum. The differential diagnosis includes verruca vulgaris, acral melanoma, and a traumatic tattoo.

Continue to: Verruca vulgaris

Verruca vulgaris similarly contains puncta but typically appears as a raised lesion with a disruption of the stratum corneum.⁵

Acral melanoma can be distinguished from tache/talon noir by dermoscopic evaluation and/or paring of the corneum. On dermoscopic evaluation, both acral melanoma and tache/talon noir will reveal parallel ridge patterns; this finding has an 86% sensitivity and 96% specificity for early acral melanoma.⁶ What differentiates the 2 is the “satellite globules” or “pebbles on a ridge” that are seen with a subcorneal hematoma. Furthermore, paring the corneum would demonstrate an absence of blood within the ridges of the skin shavings, pointing away from tache/talon noir as the diagnosis.^1-3,5-7

Traumatic tattoo can also mimic tache/talon noir, due to foreign-material deposits in the skin (gunpowder, carbon, lead, dirt, and asphalt). A history of penetrating trauma should help to narrow the differential. Attempts at paring with traumatic tattoo may or may not help with differentiation.¹

In this case, time does heal all wounds

Talon/tache noir are benign conditions that do not require treatment and do not affect sports performance. The lesion will usually self-resolve within a matter of weeks from onset or can even be gently scraped with a sterile needle or blade, which can partially or completely remove the pigmentation from within the parallel ridges.^3,5,8

Our patient was advised that the lesion would resolve on its own. His knee pain was determined to be a simple case of patellofemoral syndrome or “runner’s knee” and he opted to complete a home exercise program to obtain relief.

A 17-year-old high school baseball player presented to a sports medicine clinic for left anterior knee pain. During the exam, a hyperpigmented lesion was incidentally noted on his left palm. The patient, who also played basketball and football, was unsure of how long he’d had the lesion, and he did not recall having any prior lesions on his hand. He denied any discomfort or significant past medical history. There was no known family history of skin cancers, but the patient did report that his brother, also an athlete, had a similar lesion on his hand.

On closer examination, scattered black dots were noted within a 2 × 1–cm thickened keratotic plaque at the hypothenar eminence of the patient’s left hand (Figure). There was no tenderness, erythema, warmth, or disruption of normal skin architecture or drainage.

WHAT IS YOUR DIAGNOSIS?
HOW WOULD YOU TREAT THIS PATIENT?

 

 

Diagnosis: Posttraumatic tache noir

Posttraumatic tache noir (also known as talon noir on the volar aspect of the feet) is a subcorneal hematoma. The diagnosis is made clinically.

Identifying “pebbles on a ridge” or “satellite globules” during dermoscopic evaluation can differentiate benign from malignant sources of this type of lesion.

Our patient was a competitive baseball player, and he noted that the knob of his baseball bat rubbed the hypothenar eminence of his nondominant hand when he took a swing. The sheer force of the knob led to the subcorneal hematoma. Tache noir was high on the differential due to the author’s clinical experience with similar cases.

Tache noir occurs predominantly in people ages 12 to 24 years, without regard to gender.¹ The condition is commonly found in athletes who participate in baseball, cricket, racquet sports, weightlifting, and rock climbing.^1-3 Talon noir occurs most commonly in athletes who are frequently jumping, turning, and pivoting, as in football, basketball, tennis, and lacrosse. One should have a high index of suspicion for this diagnosis in patients who participate in any sport that might lead to shearing forces involving the volar aspect of the hands or feet.

Confirmation is obtained through a simple procedure. Dermoscopic evaluation of tache/talon noir will reveal “pebbles on a ridge” or “satellite globules.” Confirmation of tache/talon noir can be made by paring the corneum with a #15 blade, which will reveal blood in the shavings and punctate lesions.⁴

Other lesions may havea similar appearance

Tache noir can be differentiated from other conditions by the presence of preserved architecture of the skin surface and punctate capillaries beneath the stratum corneum. The differential diagnosis includes verruca vulgaris, acral melanoma, and a traumatic tattoo.

Continue to: Verruca vulgaris

Verruca vulgaris similarly contains puncta but typically appears as a raised lesion with a disruption of the stratum corneum.⁵

Acral melanoma can be distinguished from tache/talon noir by dermoscopic evaluation and/or paring of the corneum. On dermoscopic evaluation, both acral melanoma and tache/talon noir will reveal parallel ridge patterns; this finding has an 86% sensitivity and 96% specificity for early acral melanoma.⁶ What differentiates the 2 is the “satellite globules” or “pebbles on a ridge” that are seen with a subcorneal hematoma. Furthermore, paring the corneum would demonstrate an absence of blood within the ridges of the skin shavings, pointing away from tache/talon noir as the diagnosis.^1-3,5-7

Traumatic tattoo can also mimic tache/talon noir, due to foreign-material deposits in the skin (gunpowder, carbon, lead, dirt, and asphalt). A history of penetrating trauma should help to narrow the differential. Attempts at paring with traumatic tattoo may or may not help with differentiation.¹

In this case, time does heal all wounds

Talon/tache noir are benign conditions that do not require treatment and do not affect sports performance. The lesion will usually self-resolve within a matter of weeks from onset or can even be gently scraped with a sterile needle or blade, which can partially or completely remove the pigmentation from within the parallel ridges.^3,5,8

Our patient was advised that the lesion would resolve on its own. His knee pain was determined to be a simple case of patellofemoral syndrome or “runner’s knee” and he opted to complete a home exercise program to obtain relief.

Among patients with the recently defined severe autoinflammatory syndrome VEXAS, those who are transfusion dependent or have a specific amino acid substitution are at highest risk for death, whereas those with ear chondritis are at significantly lower risk, a multinational team of investigators has found.

Courtesy Dr. Marcela Ferrada

Their study of mortality and predictors of survival among patients with genetically confirmed VEXAS showed that patients with a VEXAS variant resulting in an amino acid substitution of a methionine for a valine had a 3.5-fold higher risk for death, compared with patients with either a methionine-to-threonine substitution or a methionine-to-leucine swap.

Transfusion dependence was an independent predictor of mortality. Patients who became dependent on transfusions after symptom onset had a nearly threefold higher risk for death, reported Marcela A. Ferrada, MD, a clinical fellow at the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

“These findings should inform risk assessment and clinical management in patients with VEXAS syndrome,” she said in an oral abstract presentation during the virtual annual meeting of the American College of Rheumatology.

“These genetic findings have proven right now to be not only diagnostic, but we have shown that they’re also prognostic, and we hope that this is going to help us identify patients who could have more aggressive treatment,” Dr. Ferrada said.

She also discussed her findings in a media briefing held 2 days prior to her plenary presentation. At that briefing, this news organization asked participating clinicians whether they had patients who they suspected may have had undiagnosed VEXAS.

“My answer to that is interesting,” replied moderator Vaneet Sandhu, MD, from Loma Linda (Calif.) University and Riverside University Health System.

“In the last couple of days, I’ve been reading about VEXAS, and actually texted one of my colleagues yesterday and said, ‘Hey, you know these patients we’ve been seeing who have these strange rashes and chondritis and have maybe a diagnosis of leukocytoclastic vasculitis or something else – are we not diagnosing these patients?’ ” she said.

“I think we are looking at every patient with chondritis and reexamining their phenotype. We had dismissed certain symptoms because they didn’t fit the archetype for relapsing polychondritis, for example, but it could be VEXAS,” said Alfred Kim, MD, PhD, of Washington University in St. Louis, who also presented data during the briefing.

Three variants

VEXAS is caused by somatic mutations in UBA1, a gene that initiates cytoplasmic ubiquitylation, a process by which misfolded proteins are tagged for degradation.

The syndrome’s name is an acronym descriptive of the major features:

• Vacuoles in bone marrow cells.
• E-1 activating enzyme that UBA1 encodes for.
• X-linked.
• Autoinflammatory.
• Somatic mutation featuring hematologic mosaicism.

VEXAS results in rheumatologic, dermatologic, and hematologic symptoms that are often misdiagnosed as being caused by treatment-refractory relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, giant cell arteritis, or myelodysplastic syndrome (MDS).

VEXAS was identified as a distinct syndrome within the past year by Dr. Ferrada and other investigators at NIAMS, the National Human Genome Research Institute, and other institutions.

In the study reported at ACR 2021, Dr. Ferrada and colleagues assessed 83 men who had been referred for genetic testing for VEXAS at the National Institutes of Health, in Bethesda, Md., and at Leeds (England) Teaching Hospitals NHS Trust.

All patients were confirmed to have VEXAS-defining genetic mutations in UBA1 by Sanger sequencing of peripheral blood samples. Only those patients with mutations at codon p.Met41 were included in the investigators’ analysis. Mutations at that site account for nearly all cases of VEXAS that have been identified to date.

The most common clinical manifestation of VEXAS was skin involvement, which occurred in all but one of the 83 patients. Other common manifestations included arthritis (58 patients), pulmonary infiltrates (57 patients), and ear chondritis (54 patients).

Fifteen patients were found to have the leucine variant, 18 had the valine variant, and 50 had the threonine variant. The median age at disease onset was 66 years in the leucine and threonine variant groups and 65 in the valine variant group.

The clinical diagnosis differed according to genotype: 4 of 18 patients (22%) with the valine variant were diagnosed with relapsing polychondritis, compared with 8 of 15 (53%) with the leucine variant and 31 of 50 (62%) with the threonine variant (P = .01).

In contrast, 55% of patients with valine genotype were diagnosed with undifferentiated fever, compared with 6% of those with the leucine and 16% with the threonine genotypes (P = .001). More patients with the leucine variant (60%) were diagnosed with Sweet syndrome, compared with 11% and 14% of patients with the valine and threonine variants, respectively (P = .001).

There was no significant difference among the three genotypes in the percentage of patients diagnosed with MDS.

The follow-up period ranged from 1 to 18 years (median, 4.7 years). The median survival time from disease onset for all patients was 10 years.

Among patients with the valine variant, median survival was 9 years, which was significantly less than among patients with the other two variants (P = .01).

In univariable analysis, independent predictors of mortality were ear chondritis (hazard ratio, 0.26; P = .005), transfusion dependence, a time-dependent variable (HR, 2.59; P = .03), and the valine variant (HR, 3.5; P = .008).

The association between VEXAS genotype and phenotype could be explained by the finding that, among patients with the valine variant, there was significantly less translation of the catalytically proficient UBA1b isoform than in patients with the other two variants, Dr. Ferrada said.

Therapeutic options

Dr. Ferrada noted that to date no drugs have been shown to provide consistent therapeutic benefits for patients with VEXAS, but evidence as to the etiology of the syndrome points to possible treatment approaches.

“All of these findings I think are extremely important to help us guide management of these patients, as we know that the mutation is located in the stem cells in the bone marrow. So we suspect that doing a bone marrow transplant in these patients is going to be curative,” Dr. Ferrada said during the briefing.

Investigators are planning a phase 2 trial of allogeneic hematopoietic stem cell transplant for patients with VEXAS.

The study was supported by the National Institutes of Health. Dr. Ferrada, Dr. Sandhu, and Dr. Kim have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Among patients with the recently defined severe autoinflammatory syndrome VEXAS, those who are transfusion dependent or have a specific amino acid substitution are at highest risk for death, whereas those with ear chondritis are at significantly lower risk, a multinational team of investigators has found.

Courtesy Dr. Marcela Ferrada

Their study of mortality and predictors of survival among patients with genetically confirmed VEXAS showed that patients with a VEXAS variant resulting in an amino acid substitution of a methionine for a valine had a 3.5-fold higher risk for death, compared with patients with either a methionine-to-threonine substitution or a methionine-to-leucine swap.

Transfusion dependence was an independent predictor of mortality. Patients who became dependent on transfusions after symptom onset had a nearly threefold higher risk for death, reported Marcela A. Ferrada, MD, a clinical fellow at the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

“These findings should inform risk assessment and clinical management in patients with VEXAS syndrome,” she said in an oral abstract presentation during the virtual annual meeting of the American College of Rheumatology.

“These genetic findings have proven right now to be not only diagnostic, but we have shown that they’re also prognostic, and we hope that this is going to help us identify patients who could have more aggressive treatment,” Dr. Ferrada said.

She also discussed her findings in a media briefing held 2 days prior to her plenary presentation. At that briefing, this news organization asked participating clinicians whether they had patients who they suspected may have had undiagnosed VEXAS.

“My answer to that is interesting,” replied moderator Vaneet Sandhu, MD, from Loma Linda (Calif.) University and Riverside University Health System.

“In the last couple of days, I’ve been reading about VEXAS, and actually texted one of my colleagues yesterday and said, ‘Hey, you know these patients we’ve been seeing who have these strange rashes and chondritis and have maybe a diagnosis of leukocytoclastic vasculitis or something else – are we not diagnosing these patients?’ ” she said.

“I think we are looking at every patient with chondritis and reexamining their phenotype. We had dismissed certain symptoms because they didn’t fit the archetype for relapsing polychondritis, for example, but it could be VEXAS,” said Alfred Kim, MD, PhD, of Washington University in St. Louis, who also presented data during the briefing.

Three variants

VEXAS is caused by somatic mutations in UBA1, a gene that initiates cytoplasmic ubiquitylation, a process by which misfolded proteins are tagged for degradation.

The syndrome’s name is an acronym descriptive of the major features:

• Vacuoles in bone marrow cells.
• E-1 activating enzyme that UBA1 encodes for.
• X-linked.
• Autoinflammatory.
• Somatic mutation featuring hematologic mosaicism.

VEXAS results in rheumatologic, dermatologic, and hematologic symptoms that are often misdiagnosed as being caused by treatment-refractory relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, giant cell arteritis, or myelodysplastic syndrome (MDS).

VEXAS was identified as a distinct syndrome within the past year by Dr. Ferrada and other investigators at NIAMS, the National Human Genome Research Institute, and other institutions.

In the study reported at ACR 2021, Dr. Ferrada and colleagues assessed 83 men who had been referred for genetic testing for VEXAS at the National Institutes of Health, in Bethesda, Md., and at Leeds (England) Teaching Hospitals NHS Trust.

All patients were confirmed to have VEXAS-defining genetic mutations in UBA1 by Sanger sequencing of peripheral blood samples. Only those patients with mutations at codon p.Met41 were included in the investigators’ analysis. Mutations at that site account for nearly all cases of VEXAS that have been identified to date.

The most common clinical manifestation of VEXAS was skin involvement, which occurred in all but one of the 83 patients. Other common manifestations included arthritis (58 patients), pulmonary infiltrates (57 patients), and ear chondritis (54 patients).

Fifteen patients were found to have the leucine variant, 18 had the valine variant, and 50 had the threonine variant. The median age at disease onset was 66 years in the leucine and threonine variant groups and 65 in the valine variant group.

The clinical diagnosis differed according to genotype: 4 of 18 patients (22%) with the valine variant were diagnosed with relapsing polychondritis, compared with 8 of 15 (53%) with the leucine variant and 31 of 50 (62%) with the threonine variant (P = .01).

In contrast, 55% of patients with valine genotype were diagnosed with undifferentiated fever, compared with 6% of those with the leucine and 16% with the threonine genotypes (P = .001). More patients with the leucine variant (60%) were diagnosed with Sweet syndrome, compared with 11% and 14% of patients with the valine and threonine variants, respectively (P = .001).

There was no significant difference among the three genotypes in the percentage of patients diagnosed with MDS.

The follow-up period ranged from 1 to 18 years (median, 4.7 years). The median survival time from disease onset for all patients was 10 years.

Among patients with the valine variant, median survival was 9 years, which was significantly less than among patients with the other two variants (P = .01).

In univariable analysis, independent predictors of mortality were ear chondritis (hazard ratio, 0.26; P = .005), transfusion dependence, a time-dependent variable (HR, 2.59; P = .03), and the valine variant (HR, 3.5; P = .008).

The association between VEXAS genotype and phenotype could be explained by the finding that, among patients with the valine variant, there was significantly less translation of the catalytically proficient UBA1b isoform than in patients with the other two variants, Dr. Ferrada said.

Therapeutic options

Dr. Ferrada noted that to date no drugs have been shown to provide consistent therapeutic benefits for patients with VEXAS, but evidence as to the etiology of the syndrome points to possible treatment approaches.

“All of these findings I think are extremely important to help us guide management of these patients, as we know that the mutation is located in the stem cells in the bone marrow. So we suspect that doing a bone marrow transplant in these patients is going to be curative,” Dr. Ferrada said during the briefing.

Investigators are planning a phase 2 trial of allogeneic hematopoietic stem cell transplant for patients with VEXAS.

The study was supported by the National Institutes of Health. Dr. Ferrada, Dr. Sandhu, and Dr. Kim have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Among patients with the recently defined severe autoinflammatory syndrome VEXAS, those who are transfusion dependent or have a specific amino acid substitution are at highest risk for death, whereas those with ear chondritis are at significantly lower risk, a multinational team of investigators has found.

Courtesy Dr. Marcela Ferrada

Their study of mortality and predictors of survival among patients with genetically confirmed VEXAS showed that patients with a VEXAS variant resulting in an amino acid substitution of a methionine for a valine had a 3.5-fold higher risk for death, compared with patients with either a methionine-to-threonine substitution or a methionine-to-leucine swap.

Transfusion dependence was an independent predictor of mortality. Patients who became dependent on transfusions after symptom onset had a nearly threefold higher risk for death, reported Marcela A. Ferrada, MD, a clinical fellow at the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

“These findings should inform risk assessment and clinical management in patients with VEXAS syndrome,” she said in an oral abstract presentation during the virtual annual meeting of the American College of Rheumatology.

“These genetic findings have proven right now to be not only diagnostic, but we have shown that they’re also prognostic, and we hope that this is going to help us identify patients who could have more aggressive treatment,” Dr. Ferrada said.

She also discussed her findings in a media briefing held 2 days prior to her plenary presentation. At that briefing, this news organization asked participating clinicians whether they had patients who they suspected may have had undiagnosed VEXAS.

“My answer to that is interesting,” replied moderator Vaneet Sandhu, MD, from Loma Linda (Calif.) University and Riverside University Health System.

“In the last couple of days, I’ve been reading about VEXAS, and actually texted one of my colleagues yesterday and said, ‘Hey, you know these patients we’ve been seeing who have these strange rashes and chondritis and have maybe a diagnosis of leukocytoclastic vasculitis or something else – are we not diagnosing these patients?’ ” she said.

“I think we are looking at every patient with chondritis and reexamining their phenotype. We had dismissed certain symptoms because they didn’t fit the archetype for relapsing polychondritis, for example, but it could be VEXAS,” said Alfred Kim, MD, PhD, of Washington University in St. Louis, who also presented data during the briefing.

Three variants

VEXAS is caused by somatic mutations in UBA1, a gene that initiates cytoplasmic ubiquitylation, a process by which misfolded proteins are tagged for degradation.

The syndrome’s name is an acronym descriptive of the major features:

• Vacuoles in bone marrow cells.
• E-1 activating enzyme that UBA1 encodes for.
• X-linked.
• Autoinflammatory.
• Somatic mutation featuring hematologic mosaicism.

VEXAS results in rheumatologic, dermatologic, and hematologic symptoms that are often misdiagnosed as being caused by treatment-refractory relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, giant cell arteritis, or myelodysplastic syndrome (MDS).

VEXAS was identified as a distinct syndrome within the past year by Dr. Ferrada and other investigators at NIAMS, the National Human Genome Research Institute, and other institutions.

In the study reported at ACR 2021, Dr. Ferrada and colleagues assessed 83 men who had been referred for genetic testing for VEXAS at the National Institutes of Health, in Bethesda, Md., and at Leeds (England) Teaching Hospitals NHS Trust.

All patients were confirmed to have VEXAS-defining genetic mutations in UBA1 by Sanger sequencing of peripheral blood samples. Only those patients with mutations at codon p.Met41 were included in the investigators’ analysis. Mutations at that site account for nearly all cases of VEXAS that have been identified to date.

The most common clinical manifestation of VEXAS was skin involvement, which occurred in all but one of the 83 patients. Other common manifestations included arthritis (58 patients), pulmonary infiltrates (57 patients), and ear chondritis (54 patients).

Fifteen patients were found to have the leucine variant, 18 had the valine variant, and 50 had the threonine variant. The median age at disease onset was 66 years in the leucine and threonine variant groups and 65 in the valine variant group.

The clinical diagnosis differed according to genotype: 4 of 18 patients (22%) with the valine variant were diagnosed with relapsing polychondritis, compared with 8 of 15 (53%) with the leucine variant and 31 of 50 (62%) with the threonine variant (P = .01).

In contrast, 55% of patients with valine genotype were diagnosed with undifferentiated fever, compared with 6% of those with the leucine and 16% with the threonine genotypes (P = .001). More patients with the leucine variant (60%) were diagnosed with Sweet syndrome, compared with 11% and 14% of patients with the valine and threonine variants, respectively (P = .001).

There was no significant difference among the three genotypes in the percentage of patients diagnosed with MDS.

The follow-up period ranged from 1 to 18 years (median, 4.7 years). The median survival time from disease onset for all patients was 10 years.

Among patients with the valine variant, median survival was 9 years, which was significantly less than among patients with the other two variants (P = .01).

In univariable analysis, independent predictors of mortality were ear chondritis (hazard ratio, 0.26; P = .005), transfusion dependence, a time-dependent variable (HR, 2.59; P = .03), and the valine variant (HR, 3.5; P = .008).

The association between VEXAS genotype and phenotype could be explained by the finding that, among patients with the valine variant, there was significantly less translation of the catalytically proficient UBA1b isoform than in patients with the other two variants, Dr. Ferrada said.

Therapeutic options

Dr. Ferrada noted that to date no drugs have been shown to provide consistent therapeutic benefits for patients with VEXAS, but evidence as to the etiology of the syndrome points to possible treatment approaches.

“All of these findings I think are extremely important to help us guide management of these patients, as we know that the mutation is located in the stem cells in the bone marrow. So we suspect that doing a bone marrow transplant in these patients is going to be curative,” Dr. Ferrada said during the briefing.

Investigators are planning a phase 2 trial of allogeneic hematopoietic stem cell transplant for patients with VEXAS.

The study was supported by the National Institutes of Health. Dr. Ferrada, Dr. Sandhu, and Dr. Kim have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.