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Gastrointestinal complications of epidermolysis bullosa in children

E B Freeman1, J Köglmeier, A E Martinez

  • 1Department of Paediatric Gastroenterology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK.

The British Journal of Dermatology
|March 28, 2008
PubMed

Insights

Gastrointestinal complications are common in inherited epidermolysis bullosa (EB), affecting 58% of children. Specific GI issues like constipation, reflux, and enteropathy vary by EB subtype, impacting patient care.

Area of Science:

  • Pediatric Gastroenterology
  • Dermatology
  • Genetics

Background:

  • Epidermolysis bullosa (EB) encompasses inherited disorders causing skin and mucous membrane fragility.
  • Gastrointestinal (GI) complications are frequent in EB, contributing significantly to patient morbidity.

Purpose of the Study:

  • To determine the frequency and nature of GI complications in a large pediatric EB cohort.
  • To explore subtype-specific patterns of GI involvement in EB.

Main Methods:

  • Retrospective review of medical records for 223 pediatric EB patients.
  • Analysis of documented GI symptoms, diagnostic investigations, and treatments.

Main Results:

  • 58% of patients experienced GI complications.
  • EB simplex: constipation and gastro-oesophageal reflux (GOR).
  • Junctional EB: failure to thrive and protein-losing enteropathy (PLE).
  • Dystrophic EB (DEB): constipation, GOR, esophageal strictures (recessive DEB), gastrostomy needs (recessive DEB), and diarrhea/colitis (recessive DEB).

Conclusions:

  • GI problems are highly prevalent in EB, with distinct patterns across subtypes.
  • Diarrhea, PLE, and colitis in EB may result from gut mucosal fragility and antigenic exposure.
Abstract

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