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, particularly of the larynx, can represent a challenge to the otolaryngologist. In this article, we present a case report of an infant with laryngeal EB requiring tracheostomy. All cases of EB occurring over the past 10 years at The Hospital for Sick Children are reviewed, and the frequency and extent of head and neck involvement, including that of the larynx and trachea, is described. A review of current literature describing laryngeal EB is presented.

METHOD

The charts of all patients diagnosed with EB from the period November 1986 to July 1997 were extracted and reviewed in detail. A literature review 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 reported, one within each subtype. In our literature review, only 18 cases of laryngotracheal EB have been documented in the past 20 years, and most of these 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, with death resulting most often from sepsis.