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Histopathological features of gastrointestinal mucosal biopsy specimens in children with epidermolysis bullosa
  1. N Shah1,
  2. E Freeman1,
  3. A Martinez2,
  4. J Mellerio2,
  5. V V Smith3,
  6. K J Lindley4,
  7. N J Sebire5
  1. 1Department of Paediatric Gastroenterology, Great Ormond Street Hospital, London, UK
  2. 2Department of Paediatric Dermatology, Great Ormond Street Hospital, London, UK
  3. 3Department of Histopathology, Great Ormond Street Hospital, London, UK
  4. 4Department of Paediatric Gastroenterology, Great Ormond Street Hospital, London, UK
  5. 5Department of Histopathology, Great Ormond Street Hospital, London, UK
  1. Correspondence to:
 Dr N Shah
 Consultant Paediatric Gastroenterologist, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH; ShahN{at}

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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.1–3 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.4 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,4 but there are no previous reports of mucosal histopathological features, despite these patients sometimes exhibiting significant gastrointestinal symptoms.

We report the gastrointestinal mucosal histopathological features in a series of patients with epidermolysis bullosa who underwent endoscopic evaluation for gastrointestinal symptoms at a single specialist centre.


Since 2003 it has been our policy to investigate all children seen in the epidermolysis bullosa clinic with significant abdominal symptoms by upper and lower gastrointestinal endoscopic examination with mucosal biopsies. During this three-year period, all cases that underwent endoscopic examination with this indication were identified. The findings at the time of endoscopy were reviewed in addition to other clinical …

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  • Competing interests: None declared.