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 esop… Show more
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