Junctional Epidermolysis Bullosa with Renal and Respiratory Involvement: Integrin I±[Alpha]3 Mutations

Abstract

Non-Herlitz junctional epidermolysis bullosa is characterized by localized or generalized blistering of the skin at the level of the lamina lucida, caused by mutations in one of the six genes coding for laminin-332, type XVII collagen, or integrin I±[alpha]6I2[beta]4. Characteristic is the loss of secondary hair, enamel hypoplasia, and the high incidence of revertant mosaicism. Junctional epidermolysis bullosa with pyloric atresia is caused by severe deficiency of integrin I±6I24 and is usually lethal in infancy. Junctional epidermolysis bullosa of late onset is caused by recessive missense mutations in COL17A1 and is not usually associated with the loss of secondary hair, which is so typical in non-Herlitz disease.