Case Report
A 7-year-old girl who was otherwise healthy was referred by pediatric gastroenterology for evaluation of cutaneous Crohn disease (CD). The patient had a 4-year history of persistent lip swelling and a 3-year history of asymmetric erythematous labial swelling and perianal erythema with skin tags. She had been applying the calcineurin inhibitor tacrolimus ointment 0.03% 1 or 2 times daily to her lesions with minimal improvement. She did not have a medical history of recurrent or unusual infectious diseases. There was no family history of autoimmune disease.
The patient and her guardian reported intermittent perianal pain but denied constipation, diarrhea, abdominal pain, and blood in the stool. She denied throat and tongue swelling, dysphagia, dyspnea, drooling, facial paralysis, and eyelid edema. She was a well-nourished child whose height and weight percentiles tracked at 30% and 25%, respectively. Physical examination revealed confluent symmetric lip swelling with mild angular cheilitis. Multiple 1- to 2-mm white pustules with pinpoint erosions covered the upper and lower labial mucosa and extended onto the buccal mucosa (Figure 1). She had symmetric erythema and swelling of the left labia majora extending to and involving the left perianal mucosa. Three perianal erythematous skin tags and a perianal fissure were identified.
FIGURE 1. A–C, Confluent swelling of the upper and lower labial mucosa with white pustules and plaques over the upper and lower lips in a 7-year-old girl.
The patient had been assessed 2 years earlier by pediatric dermatology and gastroenterology with an extensive evaluation that favored a diagnosis of cutaneous CD because the combination of orofacial granulomatosis (OFG), vulvar edema, and perianal skin tags is strongly associated.1-3 Contact dermatitis affecting the mouth was considered; however, allergen testing did not demonstrate a trigger.
A trial of a benzoate- and cinnamon-free diet, which has been reported to improve OFG,4 did not provide symptomatic improvement. Topical corticosteroids and tacrolimus reduced the perioral erythema, but the swelling persisted. An infectious cause was considered; however, topical mupirocin had no effect, and amoxicillin resulted in oral candidiasis.
A perianal biopsy revealed a granulomatous dermatitis. Fungal and bacterial cultures were negative. Upper and lower gastrointestinal (GI) endoscopy and a fecal calprotectin assay were not suggestive of inflammatory bowel disease (IBD). A complete blood cell count and QuantiFERON-TB Gold test measuring the immune response to tuberculosis antigens were normal. Chronic granulomatous disease, RAG1/RAG2 deficiency, common variable immunodeficiency, and NOD2 defects were ruled out with normal tests of dihydrorhodamine, quantitative immunoglobulins, and toll-like receptors.
Because of the discomfort associated with the patient’s lesions, she was offered treatment with tumor necrosis factor α inhibitors, including infliximab and adalimumab. These agents had been offered since the onset of symptoms; however, her parents declined systemic medication unless she developed GI involvement. Instead, the tacrolimus concentration was increased to 0.1% applied to the lips, labia, and perianal area, and fluocinonide gel 0.05% applied nightly to the oral pustules was added.
Two months later the patient had notably fewer oral pustules and diminished erythema but only slightly reduced oral, vulvar, and perianal swelling. A trial of oral metronidazole, which has been reported to clear a patient with cutaneous CD,5 was discontinued by her parents after 6 weeks because of a lack of interval improvement.