Nadine B. Skinner, MD

Other medical history

• Enuresis, recurrent perioral rash around age 7 with annual recurrences
• No chronic infections or illness
• Premenarchal
• Negative trauma history, including abuse
• Bike riding 2 days earlier but no falls
• Taking acyclovir as prescribed by ED; acetaminophen/ibuprofen for fever
• No known allergies

Family and social history

• Parents alive and well; no siblings
• Straight-A student
• Involved in JROTC (was on a retreat 2 weeks ago)
• No use of tobacco, alcohol, street drugs, or suspicious substances
• Denies any sexual activity

Physical examination

• Review of systems: Positive for chills, fever, dysuria, and perineal pain; otherwise negative
• Temperature 101.6°F, pulse 112, respiratory rate 22, blood pressure 110/70 mm Hg, weight 94 lb
• Alert female in no distress, normal neurologic exam
• HEENT: normal exam with clear oropharynx without lesions
• Skin/integument: no rashes, including arms, legs, hands, feet, and trunk
• Heart, lungs, and abdomen: tachycardia, otherwise normal
• Reproductive examination (chaperone present): Tanner stage III; perineal edema with marked purple ecchymoses located bilaterally at posterior introitus; multiple lacerations also noted as well as tenderness; some scabbed areas noted; no periurethral or perianal lesions or bruising; no vaginal discharge; speculum and bimanual exam were deferred due to pain.

You are concerned about abuse. You interview the patient alone and she again denies any type of sexual encounter. She has never used tampons. She does report that she is a heavy sleeper and that she recently went on a retreat where she and a girlfriend slept in the same room. As far as she knows, there was no intruder. She tearfully says, “If anything happened, I can’t remember.”

You also interview the father alone. He says he and his wife “keep a tight rein” on their daughter. She has been out of their supervision only for the recent retreat. He is concerned that his daughter may have been given a “date-rape” drug and requests testing. His demeanor seems appropriate during the conversations both in the presence and absence of his daughter.

According to state law, you notify the Department of Social Services of unexplained perineal trauma. You also contact the local sexual abuse/rape experts in your area, who have arranged for an evaluation the following day. The father assists in making the arrangements for the evaluation while he is still in your office.

Department of Social Services forensic interview and medical examination

The next day, the patient and her family undergo a comprehensive evaluation by local medical and investigative professionals from the Department of Social Services.

The differential diagnosis for genital ulcers in a sexually inexperienced female includes sexual abuse, herpes simplex virus, Behçet’s disease, Epstein Barr infection, pilonidal disease, Crohn’s disease, and hidradenitis suppurativa. Definitive diagnosis can be difficult (TABLE 1).

One retrospective series reviewed the case of 9 adolescent females with vulvar ulcers and found that 6 had no formal diagnosis. Most important, the initial presentation should prompt healthcare professionals to take steps to ensure a patient’s safety.

After performing a physical examination, the abuse experts report that the patient’s presentation is consistent with Behçet’s disease. A genital culture was obtained, and the patient was given pain medication and azithromycin.

The expert also stated that the father’s reaction to the situation was appropriate and not that of an abusive father. Most perpetrators are very hostile and defensive, whereas this father was extremely concerned and cooperative. Still, a report to Child Protective Services had to be made because of the unexplained physical findings, especially in the genital area.

Further consideration

Additional information on Behçet’s disease is found in an article in the New England Journal of Medicine from 1999: “Behçet’s disease is an inflammatory disorder of unknown cause, characterized by recurrent oral aphthous ulcers, genital ulcers, uveitis, and skin lesions.”

You ponder this information and note that your patient has no oral lesions currently but apparently has a history of some oral lesions. You review your records indicating a history of recurrent perioral rash but do not find a history of oral lesions. However, the consultant remains constant in his diagnosis.

You review the results of the ED laboratory evaluation:

• Gonorrhea/chlamydia DNA probe negative
• Herpes culture and herpes immunoglobulin M (IgM) negative
• Rapid plasma reagin (RPR) nonreactive
• Serum pregnancy negative
• Urine drug screen negative for PCP, benzodiazepines, amphetamines, THC, opiates, barbiturates, methadone, tricyclic antidepressants
• Complete blood count normal; white blood count 9600 with a normal differential

As the family physician, you interpret these results and support the clinical plan for this patient, pending further changes in the clinical picture.

TABLE 1

Differential diagnosis of vulvar ulcers in sexually inexperienced females

Next contact—ED visit 2 days later

The patient’s vaginal pain is worsening and she cannot void. Large ulcers with adhered pus are on the left labia; a smaller lesion is on the right labia. There are also questionable lacerations of the posterior fourchette. She is catheterized and 300 mL urine is emptied from the bladder. A gynecology consultation is obtained by the ED physician with your concurrence.

Details of Behçet’s disease

Behçet’s disease is most common in the third or fourth decade of life. It has an association with the human leukocyte antigen HLA-B51 and HLA-B5 allele. Vascular injuries, hyperfunction of neutrophils, and autoimmune responses lead to the clinical findings. Behçet’s disease is presumed to be an autoimmune disease, with the primary lesion being related to the vasculitis.

Clinical criteria of Behçet’s

Diagnosis of Behçet’s disease is based on clinical criteria. No single test can determine if a patient has Behçet’s.

An International Study Group of physicians was convened to develop a set of guidelines to diagnose Behçet’s disease. These criteria include recurrent, painful oral ulceration with at least 2 other symptoms (recurrent genital ulcers, eye lesions, skin lesions, and positive pathergy test) (TABLE 2). These diagnostic criteria may be accessed at the website of the American Behçet’s Disease Association, www.behcets.com.

Prevalence of signs

Oral ulcerations are the presenting signs in about 70% of cases. These ulcers may remain for as long as 3 weeks. In women, the genital lesions are often present in the vulvovaginal region; in men, they often appear in the scrotal area. Ocular complaints occur in about one-half of patients, sometimes with photophobia, watering, and blurred vision. The most common skin lesions are pseudofolliculitis and erythema nodosum.

The pathergy test uses a sterile needle to make a skin prick. The test result is positive if an aseptic erythematous nodule or pustule (>2 mm in diameter) occurs within 24 to 48 hours, indicating neutrophil hyperfunction.

Differential diagnosis

Skin, joint, gastrointestinal, vascular, and central nervous systems may also be involved. The differential diagnosis includes chronic oral aphthosis, herpes simplex virus infection, Sweet’s syndrome, ankylosing spondylitis, inflammatory bowel disease, and multiple sclerosis (TABLE 3).

Laboratory findings and treatment

Examination of the blood can reveal nonspecific findings consistent with inflammation, including elevated C-reactive protein, erythrocyte sedimentation rate, and positive markers for autoimmune diseases.

Treatmentdepends upon the particular symptoms and clinical findings and must be coordinated with the various specialists involved.

Topical steroids are used for oral and genital ulcers as well as ocular lesions.

Oral steroids are useful for gastrointestinal and neurological symptoms but may also help with skin, joint, vascular, and ocular symptoms.

Colchicine may help alleviate oral and genital ulcers as well as skin, ocular, and joint problems.

Topical tetracycline may be used to treat oral ulcers.

Anticoagulants may be indicated for vascular disturbances and progressive central nervous system lesions.

Cytotoxic and antirheumatic agents may treat vascular, ocular, neurological, and joint manifestations.

TABLE 2

Diagnostic criteria of Behçet’s disease

TABLE 3

Differential diagnosis of Behçet’s disease

Gynecology consultation

The gynecologist recommends that the patient be admitted to the hospital for examination under anesthesia. This examination found an ulcerated area of perineum, cellulitis, and edema, without a palpable abscess. Necrotic tissue is debrided.

Biopsies are obtained for herpes, aerobic, and anaerobic cultures. Repeat gonorrhea and chlamydia polymerase chain reaction (PCR) probes are obtained as well. The patient is started on ampicillin/sulbactam (Unasyn) after the debridement.

Further laboratory testing is also done at admission, including a throat culture, cryoglobulin, hepatitis screen, antinuclear antibody (ANA), HIV, lupus anticoagulant, cardiolipin, herpes IgG, antithrombin III level, immune complex detection panel for C1q, and tissue transgluttin AB4 IgA. All results are negative. A possible rheumatology consultation is also discussed.

Culture results from the previous sexual abuse evaluation show strep and gramnegative rods. Initial cultures from exam under anesthesia reveal grampositive cocci, grampositive rods, and gramnegative rods on the Gram’s stain with final report pending. An infectious disease consultation is recommended. The family physician agreed.

Infectious disease consultation

The consultant believes streptococcal infection is the most likely culprit and recommends changing the IV antibiotic from ampicillin/sulbactam to piperacillin/tazobactam (Zosyn) with the addition of clindamycin for broad-spectrum coverage. Later, the final culture results from the sexual abuse evaluation show heavy Enterococcus colonization. Surgical culture results reveal moderate Escherichia coli, moderate Enterococcus, light Staphylococcus epidermidis, heavy bacteroides, and moderate Lactobacillus. All are susceptible to the piperacillin/tazobactam.

The patient does well and is successfully switched to oral amoxicillin/clavulanate (Augmentin) with no recurrent fever and continued healing of vaginal ulcers. She is sent home to continue to heal.

One week later, the patient is seen in follow-up with continued healing and no further lesions. A few months later, the patient has healed completely and no other lesions have occurred. Incidental discussions included recent menarche. The family physician, patient, and patient’s family do a final review of all clinical and pathological findings.

The pathology report shows inflammation and necrosis. In addition, the vulvar biopsy reveals “multiple hair follicles adjacent to the inflammation and necrosis, raising the possibility of infected hair follicles and pilonidal disease.”

Unlike the implications with the presumed Behçet’s, the patient’s localized disease process has no long-term health consequences. She is discharged with a diagnosis of labial ulcers with cellulitis, resolved urinary retention, and a pathological diagnosis of pilonidal disease.

Pilonidal disease

Pilonidal disease, this patient’s final diagnosis, is more common than Behçet’s disease. Men are affected more often than women, and ages range from puberty to the third decade of life with decreased frequency after the age of 45.

Pilonidal disease becomes a problem when “nests of hair” become infected. It is mostly found in the natal cleft but can present in almost any hairy area, mostly in the midline. Other examples include the umbilicus and scalp. There are also reports of acquired pilonidal disease from trauma in the hands of barbers, hair dressers, sheep shearers, and animal groomers. It is important to distinguish pilonidal disease from other disorders in the same region, such as anal fistulas, perirectal abscesses, and hidradenitis suppurativa.

Recurrences of pilonidal disease are quite common, with painful inflamed masses, abscesses, or sinus tracts. An acute abscess must be incised and drained. Hair removal by laser may prevent the growth of hair temporarily. For recurring infections, the definitive treatment is surgical. Procedures range from simple incision and curettage to excision of the area with plastic flap reconstruction. Antibiotics are not routinely needed, but they may be appropriate when cultures indicate specific microbes, when significant cellulitis is present, or for perioperative prophylaxis.

Could it be hidradenitis suppurativa?

Hidradenitis suppurativa is a possibility, but the clinical and pathological findings make pilonidal disease more likely. Hidradenitis suppurativa similar to pilonidal disease, but it usually is located in the axillary, perineal, or inguinal areas. Incidence is as high as 1 in 300, and it frequently begins with puberty.

Hidradenitis suppurativa differs from pilonidal disease in that the hair follicle becomes occluded due to a defect in the epithelium of the follicle’s terminal ends. This defect leads to trapping of bacteria and formation of firm, peasized nodules or cysts. Some associations between hidradenitis suppurativa and sex hormones have been proposed, but hormonal states of pregnancy, menstruation, and menopause have not shown clear association with hidradenitis suppurativa. Initial symptoms of hidradenitis suppurativa may be pruritus, erythema, and hyperhidrosis. Recurrences are common. Treatment includes medications such as antibiotics, antiandrogens, and retinoids, as well as surgical excision.

Acknowledgements

The author would like to thank Jessie Junker, MD, Albert Meyer, MD, and Barbara Walker, DO, at New Hanover Regional Medical Center, Residency in Family Medicine, Wilmington, NC; and Beth Deaton, FNP, at Wilmington Health Access for Teens, Wilmington, NC.

Conflict Of Interest

The author has no conflicts of interest to declare.

Other medical history

• Enuresis, recurrent perioral rash around age 7 with annual recurrences
• No chronic infections or illness
• Premenarchal
• Negative trauma history, including abuse
• Bike riding 2 days earlier but no falls
• Taking acyclovir as prescribed by ED; acetaminophen/ibuprofen for fever
• No known allergies

Family and social history

• Parents alive and well; no siblings
• Straight-A student
• Involved in JROTC (was on a retreat 2 weeks ago)
• No use of tobacco, alcohol, street drugs, or suspicious substances
• Denies any sexual activity

Physical examination

• Review of systems: Positive for chills, fever, dysuria, and perineal pain; otherwise negative
• Temperature 101.6°F, pulse 112, respiratory rate 22, blood pressure 110/70 mm Hg, weight 94 lb
• Alert female in no distress, normal neurologic exam
• HEENT: normal exam with clear oropharynx without lesions
• Skin/integument: no rashes, including arms, legs, hands, feet, and trunk
• Heart, lungs, and abdomen: tachycardia, otherwise normal
• Reproductive examination (chaperone present): Tanner stage III; perineal edema with marked purple ecchymoses located bilaterally at posterior introitus; multiple lacerations also noted as well as tenderness; some scabbed areas noted; no periurethral or perianal lesions or bruising; no vaginal discharge; speculum and bimanual exam were deferred due to pain.

You are concerned about abuse. You interview the patient alone and she again denies any type of sexual encounter. She has never used tampons. She does report that she is a heavy sleeper and that she recently went on a retreat where she and a girlfriend slept in the same room. As far as she knows, there was no intruder. She tearfully says, “If anything happened, I can’t remember.”

You also interview the father alone. He says he and his wife “keep a tight rein” on their daughter. She has been out of their supervision only for the recent retreat. He is concerned that his daughter may have been given a “date-rape” drug and requests testing. His demeanor seems appropriate during the conversations both in the presence and absence of his daughter.

According to state law, you notify the Department of Social Services of unexplained perineal trauma. You also contact the local sexual abuse/rape experts in your area, who have arranged for an evaluation the following day. The father assists in making the arrangements for the evaluation while he is still in your office.

Department of Social Services forensic interview and medical examination

The next day, the patient and her family undergo a comprehensive evaluation by local medical and investigative professionals from the Department of Social Services.

The differential diagnosis for genital ulcers in a sexually inexperienced female includes sexual abuse, herpes simplex virus, Behçet’s disease, Epstein Barr infection, pilonidal disease, Crohn’s disease, and hidradenitis suppurativa. Definitive diagnosis can be difficult (TABLE 1).

One retrospective series reviewed the case of 9 adolescent females with vulvar ulcers and found that 6 had no formal diagnosis. Most important, the initial presentation should prompt healthcare professionals to take steps to ensure a patient’s safety.

After performing a physical examination, the abuse experts report that the patient’s presentation is consistent with Behçet’s disease. A genital culture was obtained, and the patient was given pain medication and azithromycin.

The expert also stated that the father’s reaction to the situation was appropriate and not that of an abusive father. Most perpetrators are very hostile and defensive, whereas this father was extremely concerned and cooperative. Still, a report to Child Protective Services had to be made because of the unexplained physical findings, especially in the genital area.

Further consideration

Additional information on Behçet’s disease is found in an article in the New England Journal of Medicine from 1999: “Behçet’s disease is an inflammatory disorder of unknown cause, characterized by recurrent oral aphthous ulcers, genital ulcers, uveitis, and skin lesions.”

You ponder this information and note that your patient has no oral lesions currently but apparently has a history of some oral lesions. You review your records indicating a history of recurrent perioral rash but do not find a history of oral lesions. However, the consultant remains constant in his diagnosis.

You review the results of the ED laboratory evaluation:

• Gonorrhea/chlamydia DNA probe negative
• Herpes culture and herpes immunoglobulin M (IgM) negative
• Rapid plasma reagin (RPR) nonreactive
• Serum pregnancy negative
• Urine drug screen negative for PCP, benzodiazepines, amphetamines, THC, opiates, barbiturates, methadone, tricyclic antidepressants
• Complete blood count normal; white blood count 9600 with a normal differential

As the family physician, you interpret these results and support the clinical plan for this patient, pending further changes in the clinical picture.

TABLE 1

Differential diagnosis of vulvar ulcers in sexually inexperienced females

Next contact—ED visit 2 days later

The patient’s vaginal pain is worsening and she cannot void. Large ulcers with adhered pus are on the left labia; a smaller lesion is on the right labia. There are also questionable lacerations of the posterior fourchette. She is catheterized and 300 mL urine is emptied from the bladder. A gynecology consultation is obtained by the ED physician with your concurrence.

Details of Behçet’s disease

Behçet’s disease is most common in the third or fourth decade of life. It has an association with the human leukocyte antigen HLA-B51 and HLA-B5 allele. Vascular injuries, hyperfunction of neutrophils, and autoimmune responses lead to the clinical findings. Behçet’s disease is presumed to be an autoimmune disease, with the primary lesion being related to the vasculitis.

Clinical criteria of Behçet’s

Diagnosis of Behçet’s disease is based on clinical criteria. No single test can determine if a patient has Behçet’s.

An International Study Group of physicians was convened to develop a set of guidelines to diagnose Behçet’s disease. These criteria include recurrent, painful oral ulceration with at least 2 other symptoms (recurrent genital ulcers, eye lesions, skin lesions, and positive pathergy test) (TABLE 2). These diagnostic criteria may be accessed at the website of the American Behçet’s Disease Association, www.behcets.com.

Prevalence of signs

Oral ulcerations are the presenting signs in about 70% of cases. These ulcers may remain for as long as 3 weeks. In women, the genital lesions are often present in the vulvovaginal region; in men, they often appear in the scrotal area. Ocular complaints occur in about one-half of patients, sometimes with photophobia, watering, and blurred vision. The most common skin lesions are pseudofolliculitis and erythema nodosum.

The pathergy test uses a sterile needle to make a skin prick. The test result is positive if an aseptic erythematous nodule or pustule (>2 mm in diameter) occurs within 24 to 48 hours, indicating neutrophil hyperfunction.

Differential diagnosis

Skin, joint, gastrointestinal, vascular, and central nervous systems may also be involved. The differential diagnosis includes chronic oral aphthosis, herpes simplex virus infection, Sweet’s syndrome, ankylosing spondylitis, inflammatory bowel disease, and multiple sclerosis (TABLE 3).

Laboratory findings and treatment

Examination of the blood can reveal nonspecific findings consistent with inflammation, including elevated C-reactive protein, erythrocyte sedimentation rate, and positive markers for autoimmune diseases.

Treatmentdepends upon the particular symptoms and clinical findings and must be coordinated with the various specialists involved.

Topical steroids are used for oral and genital ulcers as well as ocular lesions.

Oral steroids are useful for gastrointestinal and neurological symptoms but may also help with skin, joint, vascular, and ocular symptoms.

Colchicine may help alleviate oral and genital ulcers as well as skin, ocular, and joint problems.

Topical tetracycline may be used to treat oral ulcers.

Anticoagulants may be indicated for vascular disturbances and progressive central nervous system lesions.

Cytotoxic and antirheumatic agents may treat vascular, ocular, neurological, and joint manifestations.

TABLE 2

Diagnostic criteria of Behçet’s disease

TABLE 3

Differential diagnosis of Behçet’s disease

Gynecology consultation

The gynecologist recommends that the patient be admitted to the hospital for examination under anesthesia. This examination found an ulcerated area of perineum, cellulitis, and edema, without a palpable abscess. Necrotic tissue is debrided.

Biopsies are obtained for herpes, aerobic, and anaerobic cultures. Repeat gonorrhea and chlamydia polymerase chain reaction (PCR) probes are obtained as well. The patient is started on ampicillin/sulbactam (Unasyn) after the debridement.

Further laboratory testing is also done at admission, including a throat culture, cryoglobulin, hepatitis screen, antinuclear antibody (ANA), HIV, lupus anticoagulant, cardiolipin, herpes IgG, antithrombin III level, immune complex detection panel for C1q, and tissue transgluttin AB4 IgA. All results are negative. A possible rheumatology consultation is also discussed.

Culture results from the previous sexual abuse evaluation show strep and gramnegative rods. Initial cultures from exam under anesthesia reveal grampositive cocci, grampositive rods, and gramnegative rods on the Gram’s stain with final report pending. An infectious disease consultation is recommended. The family physician agreed.

Infectious disease consultation

The consultant believes streptococcal infection is the most likely culprit and recommends changing the IV antibiotic from ampicillin/sulbactam to piperacillin/tazobactam (Zosyn) with the addition of clindamycin for broad-spectrum coverage. Later, the final culture results from the sexual abuse evaluation show heavy Enterococcus colonization. Surgical culture results reveal moderate Escherichia coli, moderate Enterococcus, light Staphylococcus epidermidis, heavy bacteroides, and moderate Lactobacillus. All are susceptible to the piperacillin/tazobactam.

The patient does well and is successfully switched to oral amoxicillin/clavulanate (Augmentin) with no recurrent fever and continued healing of vaginal ulcers. She is sent home to continue to heal.

One week later, the patient is seen in follow-up with continued healing and no further lesions. A few months later, the patient has healed completely and no other lesions have occurred. Incidental discussions included recent menarche. The family physician, patient, and patient’s family do a final review of all clinical and pathological findings.

The pathology report shows inflammation and necrosis. In addition, the vulvar biopsy reveals “multiple hair follicles adjacent to the inflammation and necrosis, raising the possibility of infected hair follicles and pilonidal disease.”

Unlike the implications with the presumed Behçet’s, the patient’s localized disease process has no long-term health consequences. She is discharged with a diagnosis of labial ulcers with cellulitis, resolved urinary retention, and a pathological diagnosis of pilonidal disease.

Pilonidal disease

Pilonidal disease, this patient’s final diagnosis, is more common than Behçet’s disease. Men are affected more often than women, and ages range from puberty to the third decade of life with decreased frequency after the age of 45.

Pilonidal disease becomes a problem when “nests of hair” become infected. It is mostly found in the natal cleft but can present in almost any hairy area, mostly in the midline. Other examples include the umbilicus and scalp. There are also reports of acquired pilonidal disease from trauma in the hands of barbers, hair dressers, sheep shearers, and animal groomers. It is important to distinguish pilonidal disease from other disorders in the same region, such as anal fistulas, perirectal abscesses, and hidradenitis suppurativa.

Recurrences of pilonidal disease are quite common, with painful inflamed masses, abscesses, or sinus tracts. An acute abscess must be incised and drained. Hair removal by laser may prevent the growth of hair temporarily. For recurring infections, the definitive treatment is surgical. Procedures range from simple incision and curettage to excision of the area with plastic flap reconstruction. Antibiotics are not routinely needed, but they may be appropriate when cultures indicate specific microbes, when significant cellulitis is present, or for perioperative prophylaxis.

Could it be hidradenitis suppurativa?

Hidradenitis suppurativa is a possibility, but the clinical and pathological findings make pilonidal disease more likely. Hidradenitis suppurativa similar to pilonidal disease, but it usually is located in the axillary, perineal, or inguinal areas. Incidence is as high as 1 in 300, and it frequently begins with puberty.

Hidradenitis suppurativa differs from pilonidal disease in that the hair follicle becomes occluded due to a defect in the epithelium of the follicle’s terminal ends. This defect leads to trapping of bacteria and formation of firm, peasized nodules or cysts. Some associations between hidradenitis suppurativa and sex hormones have been proposed, but hormonal states of pregnancy, menstruation, and menopause have not shown clear association with hidradenitis suppurativa. Initial symptoms of hidradenitis suppurativa may be pruritus, erythema, and hyperhidrosis. Recurrences are common. Treatment includes medications such as antibiotics, antiandrogens, and retinoids, as well as surgical excision.

Acknowledgements

The author would like to thank Jessie Junker, MD, Albert Meyer, MD, and Barbara Walker, DO, at New Hanover Regional Medical Center, Residency in Family Medicine, Wilmington, NC; and Beth Deaton, FNP, at Wilmington Health Access for Teens, Wilmington, NC.

Conflict Of Interest

The author has no conflicts of interest to declare.

Other medical history

• Enuresis, recurrent perioral rash around age 7 with annual recurrences
• No chronic infections or illness
• Premenarchal
• Negative trauma history, including abuse
• Bike riding 2 days earlier but no falls
• Taking acyclovir as prescribed by ED; acetaminophen/ibuprofen for fever
• No known allergies

Family and social history

• Parents alive and well; no siblings
• Straight-A student
• Involved in JROTC (was on a retreat 2 weeks ago)
• No use of tobacco, alcohol, street drugs, or suspicious substances
• Denies any sexual activity

Physical examination

• Review of systems: Positive for chills, fever, dysuria, and perineal pain; otherwise negative
• Temperature 101.6°F, pulse 112, respiratory rate 22, blood pressure 110/70 mm Hg, weight 94 lb
• Alert female in no distress, normal neurologic exam
• HEENT: normal exam with clear oropharynx without lesions
• Skin/integument: no rashes, including arms, legs, hands, feet, and trunk
• Heart, lungs, and abdomen: tachycardia, otherwise normal
• Reproductive examination (chaperone present): Tanner stage III; perineal edema with marked purple ecchymoses located bilaterally at posterior introitus; multiple lacerations also noted as well as tenderness; some scabbed areas noted; no periurethral or perianal lesions or bruising; no vaginal discharge; speculum and bimanual exam were deferred due to pain.

You are concerned about abuse. You interview the patient alone and she again denies any type of sexual encounter. She has never used tampons. She does report that she is a heavy sleeper and that she recently went on a retreat where she and a girlfriend slept in the same room. As far as she knows, there was no intruder. She tearfully says, “If anything happened, I can’t remember.”

You also interview the father alone. He says he and his wife “keep a tight rein” on their daughter. She has been out of their supervision only for the recent retreat. He is concerned that his daughter may have been given a “date-rape” drug and requests testing. His demeanor seems appropriate during the conversations both in the presence and absence of his daughter.

According to state law, you notify the Department of Social Services of unexplained perineal trauma. You also contact the local sexual abuse/rape experts in your area, who have arranged for an evaluation the following day. The father assists in making the arrangements for the evaluation while he is still in your office.

Department of Social Services forensic interview and medical examination

The next day, the patient and her family undergo a comprehensive evaluation by local medical and investigative professionals from the Department of Social Services.

The differential diagnosis for genital ulcers in a sexually inexperienced female includes sexual abuse, herpes simplex virus, Behçet’s disease, Epstein Barr infection, pilonidal disease, Crohn’s disease, and hidradenitis suppurativa. Definitive diagnosis can be difficult (TABLE 1).

One retrospective series reviewed the case of 9 adolescent females with vulvar ulcers and found that 6 had no formal diagnosis. Most important, the initial presentation should prompt healthcare professionals to take steps to ensure a patient’s safety.

After performing a physical examination, the abuse experts report that the patient’s presentation is consistent with Behçet’s disease. A genital culture was obtained, and the patient was given pain medication and azithromycin.

The expert also stated that the father’s reaction to the situation was appropriate and not that of an abusive father. Most perpetrators are very hostile and defensive, whereas this father was extremely concerned and cooperative. Still, a report to Child Protective Services had to be made because of the unexplained physical findings, especially in the genital area.

Further consideration

Additional information on Behçet’s disease is found in an article in the New England Journal of Medicine from 1999: “Behçet’s disease is an inflammatory disorder of unknown cause, characterized by recurrent oral aphthous ulcers, genital ulcers, uveitis, and skin lesions.”

You ponder this information and note that your patient has no oral lesions currently but apparently has a history of some oral lesions. You review your records indicating a history of recurrent perioral rash but do not find a history of oral lesions. However, the consultant remains constant in his diagnosis.

You review the results of the ED laboratory evaluation:

• Gonorrhea/chlamydia DNA probe negative
• Herpes culture and herpes immunoglobulin M (IgM) negative
• Rapid plasma reagin (RPR) nonreactive
• Serum pregnancy negative
• Urine drug screen negative for PCP, benzodiazepines, amphetamines, THC, opiates, barbiturates, methadone, tricyclic antidepressants
• Complete blood count normal; white blood count 9600 with a normal differential

As the family physician, you interpret these results and support the clinical plan for this patient, pending further changes in the clinical picture.

TABLE 1

Differential diagnosis of vulvar ulcers in sexually inexperienced females

Next contact—ED visit 2 days later

The patient’s vaginal pain is worsening and she cannot void. Large ulcers with adhered pus are on the left labia; a smaller lesion is on the right labia. There are also questionable lacerations of the posterior fourchette. She is catheterized and 300 mL urine is emptied from the bladder. A gynecology consultation is obtained by the ED physician with your concurrence.

Details of Behçet’s disease

Behçet’s disease is most common in the third or fourth decade of life. It has an association with the human leukocyte antigen HLA-B51 and HLA-B5 allele. Vascular injuries, hyperfunction of neutrophils, and autoimmune responses lead to the clinical findings. Behçet’s disease is presumed to be an autoimmune disease, with the primary lesion being related to the vasculitis.

Clinical criteria of Behçet’s

Diagnosis of Behçet’s disease is based on clinical criteria. No single test can determine if a patient has Behçet’s.

An International Study Group of physicians was convened to develop a set of guidelines to diagnose Behçet’s disease. These criteria include recurrent, painful oral ulceration with at least 2 other symptoms (recurrent genital ulcers, eye lesions, skin lesions, and positive pathergy test) (TABLE 2). These diagnostic criteria may be accessed at the website of the American Behçet’s Disease Association, www.behcets.com.

Prevalence of signs

Oral ulcerations are the presenting signs in about 70% of cases. These ulcers may remain for as long as 3 weeks. In women, the genital lesions are often present in the vulvovaginal region; in men, they often appear in the scrotal area. Ocular complaints occur in about one-half of patients, sometimes with photophobia, watering, and blurred vision. The most common skin lesions are pseudofolliculitis and erythema nodosum.

The pathergy test uses a sterile needle to make a skin prick. The test result is positive if an aseptic erythematous nodule or pustule (>2 mm in diameter) occurs within 24 to 48 hours, indicating neutrophil hyperfunction.

Differential diagnosis

Skin, joint, gastrointestinal, vascular, and central nervous systems may also be involved. The differential diagnosis includes chronic oral aphthosis, herpes simplex virus infection, Sweet’s syndrome, ankylosing spondylitis, inflammatory bowel disease, and multiple sclerosis (TABLE 3).

Laboratory findings and treatment

Examination of the blood can reveal nonspecific findings consistent with inflammation, including elevated C-reactive protein, erythrocyte sedimentation rate, and positive markers for autoimmune diseases.

Treatmentdepends upon the particular symptoms and clinical findings and must be coordinated with the various specialists involved.

Topical steroids are used for oral and genital ulcers as well as ocular lesions.

Oral steroids are useful for gastrointestinal and neurological symptoms but may also help with skin, joint, vascular, and ocular symptoms.

Colchicine may help alleviate oral and genital ulcers as well as skin, ocular, and joint problems.

Topical tetracycline may be used to treat oral ulcers.

Anticoagulants may be indicated for vascular disturbances and progressive central nervous system lesions.

Cytotoxic and antirheumatic agents may treat vascular, ocular, neurological, and joint manifestations.

TABLE 2

Diagnostic criteria of Behçet’s disease

TABLE 3

Differential diagnosis of Behçet’s disease

Gynecology consultation

The gynecologist recommends that the patient be admitted to the hospital for examination under anesthesia. This examination found an ulcerated area of perineum, cellulitis, and edema, without a palpable abscess. Necrotic tissue is debrided.

Biopsies are obtained for herpes, aerobic, and anaerobic cultures. Repeat gonorrhea and chlamydia polymerase chain reaction (PCR) probes are obtained as well. The patient is started on ampicillin/sulbactam (Unasyn) after the debridement.

Further laboratory testing is also done at admission, including a throat culture, cryoglobulin, hepatitis screen, antinuclear antibody (ANA), HIV, lupus anticoagulant, cardiolipin, herpes IgG, antithrombin III level, immune complex detection panel for C1q, and tissue transgluttin AB4 IgA. All results are negative. A possible rheumatology consultation is also discussed.

Culture results from the previous sexual abuse evaluation show strep and gramnegative rods. Initial cultures from exam under anesthesia reveal grampositive cocci, grampositive rods, and gramnegative rods on the Gram’s stain with final report pending. An infectious disease consultation is recommended. The family physician agreed.

Infectious disease consultation

The consultant believes streptococcal infection is the most likely culprit and recommends changing the IV antibiotic from ampicillin/sulbactam to piperacillin/tazobactam (Zosyn) with the addition of clindamycin for broad-spectrum coverage. Later, the final culture results from the sexual abuse evaluation show heavy Enterococcus colonization. Surgical culture results reveal moderate Escherichia coli, moderate Enterococcus, light Staphylococcus epidermidis, heavy bacteroides, and moderate Lactobacillus. All are susceptible to the piperacillin/tazobactam.

The patient does well and is successfully switched to oral amoxicillin/clavulanate (Augmentin) with no recurrent fever and continued healing of vaginal ulcers. She is sent home to continue to heal.

One week later, the patient is seen in follow-up with continued healing and no further lesions. A few months later, the patient has healed completely and no other lesions have occurred. Incidental discussions included recent menarche. The family physician, patient, and patient’s family do a final review of all clinical and pathological findings.

The pathology report shows inflammation and necrosis. In addition, the vulvar biopsy reveals “multiple hair follicles adjacent to the inflammation and necrosis, raising the possibility of infected hair follicles and pilonidal disease.”

Unlike the implications with the presumed Behçet’s, the patient’s localized disease process has no long-term health consequences. She is discharged with a diagnosis of labial ulcers with cellulitis, resolved urinary retention, and a pathological diagnosis of pilonidal disease.

Pilonidal disease

Pilonidal disease, this patient’s final diagnosis, is more common than Behçet’s disease. Men are affected more often than women, and ages range from puberty to the third decade of life with decreased frequency after the age of 45.

Pilonidal disease becomes a problem when “nests of hair” become infected. It is mostly found in the natal cleft but can present in almost any hairy area, mostly in the midline. Other examples include the umbilicus and scalp. There are also reports of acquired pilonidal disease from trauma in the hands of barbers, hair dressers, sheep shearers, and animal groomers. It is important to distinguish pilonidal disease from other disorders in the same region, such as anal fistulas, perirectal abscesses, and hidradenitis suppurativa.

Recurrences of pilonidal disease are quite common, with painful inflamed masses, abscesses, or sinus tracts. An acute abscess must be incised and drained. Hair removal by laser may prevent the growth of hair temporarily. For recurring infections, the definitive treatment is surgical. Procedures range from simple incision and curettage to excision of the area with plastic flap reconstruction. Antibiotics are not routinely needed, but they may be appropriate when cultures indicate specific microbes, when significant cellulitis is present, or for perioperative prophylaxis.

Could it be hidradenitis suppurativa?

Hidradenitis suppurativa is a possibility, but the clinical and pathological findings make pilonidal disease more likely. Hidradenitis suppurativa similar to pilonidal disease, but it usually is located in the axillary, perineal, or inguinal areas. Incidence is as high as 1 in 300, and it frequently begins with puberty.

Hidradenitis suppurativa differs from pilonidal disease in that the hair follicle becomes occluded due to a defect in the epithelium of the follicle’s terminal ends. This defect leads to trapping of bacteria and formation of firm, peasized nodules or cysts. Some associations between hidradenitis suppurativa and sex hormones have been proposed, but hormonal states of pregnancy, menstruation, and menopause have not shown clear association with hidradenitis suppurativa. Initial symptoms of hidradenitis suppurativa may be pruritus, erythema, and hyperhidrosis. Recurrences are common. Treatment includes medications such as antibiotics, antiandrogens, and retinoids, as well as surgical excision.

Acknowledgements

The author would like to thank Jessie Junker, MD, Albert Meyer, MD, and Barbara Walker, DO, at New Hanover Regional Medical Center, Residency in Family Medicine, Wilmington, NC; and Beth Deaton, FNP, at Wilmington Health Access for Teens, Wilmington, NC.

Conflict Of Interest

The author has no conflicts of interest to declare.