Epidermolysis bullosa: radiographic findings in 16 cases

Abstract

Epidermolysis bullosa is a group of dermatologic disorders with varied inheritance patterns having the common manifestation of blister or bulla formation after minor trauma. Sixteen patients with the disease had the following radiographic manifestations: esophageal stricture (16), fecal impaction (six), vaginal stenosis (one), epithelial bridging and fusion of the digits (six), and aspiration changes in the lungs (two). Esophageal strictures involved the pharynx or cervical esophagus in eight cases and were multiple in five; they ranged in length from 2 mm to 15 cm and tended to progress over time. The findings of esophageal stricture, particularly when multiple and involving the proximal esophagus, and/or the presence of distal phalangeal atrophy with soft-tissue webbing suggest the diagnosis of epidermolysis bullosa.