Gastrointestinal complications of epidermolysis bullosa in children

Background Epidermolysis bullosa (EB) is a group of inherited disorders characterized by skin and mucous membrane fragility. Gastrointestinal (GI) complications have been described in many types of EB and are responsible for significant morbidity. Objectives To delineate the nature and frequency of GI complications in a large cohort of paediatric patients with EB and to postulate why some complications occur more commonly in some specific subtypes. Methods The case notes of 223 children with EB seen at a national referral centre were examined retrospectively for the presence of GI symptoms, investigations and interventions. Results GI complications were present in 130/223 (58%) of all patients. In EB simplex, constipation and gastro-oesophageal reflux (GOR) were frequently observed. In junctional EB, failure to thrive and protein-losing enteropathy (PLE) were the prominent GI manifestations. Constipation was common in patients with dystrophic EB (DEB) requiring laxatives and in some cases fibre supplementation. GOR affected three-quarters of those with recessive DEB, two-thirds also having significant oesophageal strictures. Over half of patients with recessive DEB required gastrostomy insertion. Diarrhoea affected a small but significant proportion of children with recessive DEB with macroscopic and/or microscopic changes of colitis in the majority. Conclusion GI problems in EB are very common with subtype specificity for some of these complications. The occurrence of diarrhoea, PLE and colitis in the context of EB has not been highlighted previously, and may arise secondarily to antigenic exposure in the gut lumen as a result of mucosal fragility.