Epidermolysis bullosa of the oesophagus with oesophageal web formation

Abstract

Four members of a family are described with epidermolysis bullosa dystrophica of probable autosomal recessive inheritance. They have shown the typical blistering of the skin and oral mucosa, usually present at birth, which occurs in this uncommon condition. Lesions occur after minor injury and heal slowly with scarring. Abnormalities of the nails and teeth are also present. Oesophageal mucosal involvement can be a serious feature of this type of epidermolysis bullosa and usually manifests clinically as dysphagia and regurgitation of food and blood; oesophageal stenosis may ensue. Dysphagia was present in all four patients described in this study and regurgitation of an oesophageal cast occurred in one. Severe oesophageal stenosis occurred in two patients and minor narrowing and irregularity were present in the others. Treatment by oesophagoscopy and bouginage was carried out in the two patients with stenosis with some relief of dysphagia. Oesophageal webs have rarely been reported in epidermolysis bullosa. In all 4 patients, a postcricoid web was found. The presence of a smooth tongue in 4 patients and anemia in 2 suggests the co-existence of the Paterson-Brown Kelly syndrome, although alternatively these webs may have resulted from the blistering and scarring process of epidermolysis bullosa.