Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of skin diseases with different clinical manifestations and varied inheritance patterns. Blisters may appear spontaneously or following minimal trauma to the skin or mucosa.

this paper aims to describe the otorhinolaryngological manifestations and esophageal complications related to EB, and the experience in treating patients with esophageal stenosis secondary to this disease.

this descriptive study enrolled 60 patients with EB seen from June 1999 to December 2006 at the Head and Neck Surgery Service of X Hospital, a reference center for EB.

the patients' mean age was 14.5 years. Twenty-eight (46.6%) were females and 32 (53.4%) were males. Eight (13.4%) were diagnosed with epidermolysis bullosa simplex, while 51 (85%) had epidermolysis bullosa dystrophica; one (1.6%) patient had one acquired EB. Lips, mouth, tongue and ears were the most frequently involved sites (32 patients - 53.3%). Dysphagia was found in 28 patients (46.6%). After esophageal dilatation the symptoms subsided.

EB is a rare disease and patients must be sent for treatment at reference centers. Physicians treating patients for EB must be aware of the measures required to improve the quality of the treatment provided without putting the patients in harm's way.