Esophageal Stenosis - a Notable Complication of Epidermolysis Bullosa - case report

Abstract

Epidermolysis bullosa is a rare condition caused by a genetic defect of the anchoring proteins between the epidermis and the dermis with an incidence of 1/50000. A 2 years and 7 months old, male infant was admitted in the Gastroenterology department of the pediatric hospital for severe dysphagia, the physical exam revealing skin lesions, scarring and nail abnormalities suggestive for Epidermolysis bullosa. The upper gastrointestinal endoscopy revealed a friable mucosa with ulcerative injuries and a severe esophageal stenosis. Epidemolysis bullosa, a condition involving mostly the skin can also be associated with severe mucosal injury that may cause serious medical complications.