Epidermolysis bullosa of the head and neck: A case report of laryngotracheal involvement and 10-year review of cases at the Hospital for Sick Children

Objective: Epidermolysis bullosa (EB) involvement of the head and neck, par ticularly of the larynx, can represent a challenge to the otolaryngologist. In this article, we present a case report of an infant with laryngeal EB r equiring tracheostomy. All cases of EB occurring over the past 10 years at The Hospital for Sick Children are reviewed, and the frequency and extent o f head and neck involvement, including that of the larynx and trachea, is d escribed. A review of current literature describing laryngeal EB is present ed. Method: The charts of all patients diagnosed with EB from the period Novemb er 1986 to July 1997 were extracted and reviewed in detail. A literature re view of reports of laryngeal EB over the past 20 years was completed via a Medline search. Results: Sixteen cases of EB were identified and reviewed. These cases were categorized into the three major subtypes of EB: dystrophic EB, junctional EB, and EB simplex. Three cases of laryngotracheal involvement were report ed, one within each subtype. In our literature review, only 18 cases of lar yngotracheal EB have been documented in the past 20 years, and most of thes e were diagnosed with the junctional EB subtype. The overall prognosis for patients with junctional EB based on review of cases in our institution, as well as in our review of literature, was poor. Conclusions: The extent of EB involvement of the head and neck is variable, often depending on subtype. Laryngeal involvement with EB is very rare but of significance, since mortality within this group of patients is high, wi th death resulting most often from sepsis.