Otorhinolaryngologic Aspects of Epidermolysis Bullosa

Abstract

Although epidermolysis bullosa (EB) affects mainly the keratinizing stratified squamous epithelium of the skin, virtually any mucosal surface can be involved.¹ This is well illustrated by cases in which blisters occur in the larynx. Except for the true vocal cords and parts of the epiglottis, the larynx is covered with pseudo-stratified columnar epithelium containing goblet cells. And yet, blister formation has been noted in almost all parts of the larynx, sometimes with serious consequences. In general, it appears that the supraglottic region including the epiglottis, arytenoids, and aryepiglottic folds are most often affected. Respiratory arrest due to obstructing laryngeal blisters can occur with alarming suddenness, and death has been reported. Any patient with respiratory symptoms requires careful laryngeal assessment to formulate an individualized treatment plan. Fortunately, laryngeal involvement is rare, and a search of the English literature revealed only 10 cases, including one we had managed ourselves.² We are aware of an additional case managed by others (Scott Schaeffer, M.D., personal communication). In this chapter, we review these cases and discuss guidelines in problem recognition and management.