GASTROINTESTINAL MANIFESTATIONS IN THE HALLOPEAU-SIEMENS VARIANT OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

Epidermolysis bullosa encompasses a group of rare disorders typified by blister formation following minor trauma to the skin. Gastrointestinal tract involvement may Occur in the extremely rare recessive dystrophic variants. The gastrointestinal manifestations present in 25 patients with the Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa are reviewed. In the oesophagus both anatomical and motility abnormalities were observed. Features seen included a generally shortened oesophagus, strictures including those resembling webs, hiatus herniae, decreased peristalsis, oesophageal atony and pseudodiverticulum formation. These patients also had faecal impaction.