A 9-year-old girl presented with classic signs of sexual abuse, including vulvovaginal maceration and perianal skin tags. She also had gum hypertrophy, hand eczema, a mild degree of clubbing of the fingers, and diffuse hair loss, as well as depression and apathy. What’s your diagnosis?
Diagnosis: Crohn’s Disease
Crohn’s disease patients often present with abdominal pain and diarrhea as the first symptoms, said Dr. Sarah Al-Breiki and Dr. Nadya Al-Faraidy of King Fahd Hospital in al-Khobar, Saudi Arabia. The dermatologists presented the case at the Orlando Dermatology Aesthetic and Clinical Conference.
Previous studies have shown that perineal and anal lesions are common in Crohn’s disease, and often they appear before a diagnosis of gastrointestinal CD is made, the doctors noted. Their differential diagnosis included sexual abuse, plasma cell orificial and vulval mucositis, connective tissue disease, malignancy associated disease, congenital malabsorption disease, severe infections (including mycobacteria or parasites), and Crohn’s disease.
The doctors found no abdominal symptoms on systemic review. But vaginal swabs grew a culture of group B streptococcus and Staphylococcus aureus. In addition, biopsies from skin tags and the labia majora showed "hyperplastic keratinized stratified squamous epithelium, with a heavy infiltrate consisting mainly of plasmacytic mononuclear cells and thick-walled blood vessels."
In this case, the doctors suspected Crohn’s disease after thoroughly evaluating the patient. The diagnosis was confirmed by colonoscopy, despite the lack of abdominal symptoms. "There was a low-lying fistula that opened from the lower part of the rectum into the vagina," Dr. Al-Breiki said in an interview. The fistula was causing the maceration and erosions in the vaginal area, she said.
Laboratory results also showed iron deficiency anemia, hypoalbuminuria, and plasma cells in the skin tags. Polyclonal gammopathy ruled out multiple myeloma. Relevant lab tests that came up negative included sexually transmitted diseases, antinuclear antibodies, antineutrophil cytoplasmic antibodies, thyroid-stimulation hormone, and occult blood in the stool.
"In our case, the anemia was due to iron deficiency, and iron supplementation was initiated," the doctors noted. Psychological intervention is as important as nutritional intervention in managing a chronic illness such as Crohn’s, and symptoms such as depression and apathy can result from nutritional deficiency or from feelings of self-consciousness or poor body image, they noted.
Because children with CD can present with skin lesions prior to systemic complaints, "a dermatologist can play a crucial role in early diagnosis and referral of Crohn’s disease," the doctors noted.
The doctors had no financial conflicts to disclose.
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