Generalized Severe Junctional Epidermolysis Bullosa

Abstract

The generalized severe subtype of junctional EB (formerly junctional EB Herlitz type) is the usually most severe lethal variant of the EB group of mechanobullous genodermatoses. Extreme blistering of the skin and mucous membranes and impaired wound healing lead to chronic erosions and formation of exuberant granulation tissue which, in addition to pigmentary changes, nail anomalies, and dental hypoplasia, are clinical hallmarks of the disease. Complications arising from numerous extracutaneous manifestations involving, for instance, the eye and gastrointestinal, laryngeal, and genitourinary tract also account for the devastatingly high morbidity and mortality in early childhood.