Histopathological features of gastrointestinal mucosal biopsy specimens in children with epidermolysis bullosa

摘要

Epidermolysis bullosa (EB) is a term used to represent a group of conditions characterised by cutaneous blistering due to abnormalities of ultrastructural components anchoring epithelial cells to either each other or to the basement membrane. There are a range of subtypes, which were traditionally classified on the basis of the level of the epidermal separation, more recently delineated on the basis of the underlying genetic defect. The vast majority of the clinical literature in these conditions is based around the cutaneous complications. There is a reported association between some subtypes of epidermolysis bullosa and pyloric stenosis, but there are no previous reports of mucosal histopathological features, despite these patients sometimes exhibiting significant gastrointestinal symptoms.