Epidermolysis Bullosa Dystrophica of the Larynx and Trachea

Abstract

Epidermolysis bullosa dystrophica (EBD) is a rare inherited skin disease generally presenting in newborns. It is characterized by noninflammatory bullous lesions which can involve the mucous membranes of the oral cavity and oropharynx. If death occurs, it is usually the result of septicemia or fluid and electrolyte imbalance. Although mucous membrane involvement may be extensive and despite the reported evidence of tracheal and indirect evidence of laryngeal involvement, airway obstruction has not been implicated as a possible contributor to mortality in these patients. Since the presence of EBD in the larynx of a newborn might be expected to produce upper airway obstruction, however, and because of the absence of reports of laryngeal EBD, a case is presented of EBD-induced airway obstruction accompanied by photographic evidence of laryngeal and tracheal involvement with EBD. A three-week-old boy with biopsy-proven EBD present at birth was admitted to UCLA Medical Center with increasing stridor. The patient's extremities, diaper area, and numerous pressure-bearing sites on the back and elbows demonstrated erythematous denuded skin with occasional bullae up to 2 cm in size. The mucous membranes of the mouth and oropharynx showed similar denuded lesions. A tracheotomy was performed followed by a direct microlaryngoscopy and bronchoscopy revealing EBD on the supraglottic structures, vocal cords, and trachea. Otolaryngologists who are involved in the care of newborns should be aware of the possible, nearly fatal laryngeal involvement that can accompany this disease.