Epidermolysis bullosa (EB) has been linked to the presence of tissue eosinophilia similar to what is seen in eosinophilic gastroenteropathies. EB is also linked to other GI disorders such as Crohn's disease. We report the first case of an infant with both epidermolysis bullosa and eosinophilic colitis.

A three week old male infant with a history of bullous skin lesions was admitted for projectile vomiting, diarrhea, and failure to thrive. He was started on Pregestimil for presumed milk protein allergy. CBC was normal except for an elevated platelet count of 780. No peripheral eosinophilia was noted. Serum zinc level was within normal limits. Total IgE level measured by ELISA was <2. T and B cell enumeration by flow cytometry was normal. Quantitative IgG, IgM, and IgA were measured by nephelometry and were normal for age. Immunocap RAST was class 0 for milk and soy. The patient continued to have profuse diarrhea and subsequently developed hyponatremia, hypokalemia, and acidosis requiring ICU admission. Endoscopy and colonscopy with biopsies were performed. A skin punch biopsy of a bullous lesion was also performed.

Colonoscopy and endoscopy revealed minimal inflammation. Colon biopsy revealed marked eosinophilic infiltrate consistent with eosinophilic colitis. Skin biopsy revealed subepidermal blister with vesicular dermatitis consistent with epidermolysis bullosa. The patient's nutritional status clinically improved after switching to Neocate formula.

This patient presented with both epidermolysis bullosa and eosinophilic colitis. There may be a common underlying mechanisms for these two diseases.