Cutaneous erosions and ulcerations in the diaper area are common in infancy and usually result from local irritation. We describe an infant with chronic diarrhea and failure to thrive who developed extensive ulcerations in the inguinal folds and perineum that were initially thought to be exclusively caused by local irritation. A cutaneous examination found signs consistent with those of pyoderma gangrenosum, leading to a diagnosis of infantile Crohn disease. Cutaneous signs can lead to the diagnosis of an underlying systemic disease in infants with chronic diarrhea and rash. Prompt diagnosis is especially important in infantile Crohn disease, since many infants require surgical resection of affected bowel, and 60% die from disease complications. This article reports a rare instance of an infant who developed pyoderma gangrenosum due to Crohn disease and reviews cutaneous signs of systemic disease in infants presenting with chronic diarrhea and rash.
Blue rubber bleb nevus syndrome (BRBNS) commonly presents with anemia from bleeding gastrointestinal (GI) vascular malformations. Management is highly variable, as no consensus guidelines for medical treatment currently exist. Sirolimus has been used in BRBNS to decrease GI bleeding and seems well tolerated, though questions remain regarding dosing, duration of therapy, and adverse effects. Here, we report our single‐center experience of four pediatric patients with BRBNS who were successfully treated with sirolimus and review the existing literature regarding sirolimus for treatment of GI bleeding in BRBNS. Further prospective studies are needed to establish optimal dosage, drug monitoring, and duration.
Cough and respiratory infections are common in pediatrics. Our case report illustrates the need for pediatricians to consider rare diagnoses such as genetic syndromes and primary gastrointestinal motility disorders in patients with unremitting respiratory and gastrointestinal symptoms. Early identification provides early intervention and reduces long‐term morbidity for pediatric patients.
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