Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.

摘要

Epidermolysis bullosa (EB) is a heritable skin disorder characterized by increased skin fragility after relatively minor trauma. There is tremendous variability in the phenotypic spectrum from very mild blistering, largely localized to the hands and feet, to severe generalized and mucocutaneous blistering which can lead to death of affected individuals within the first days to year of life. The classification system proposed in 2000 for the various types of EB with three major categories, EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB), is generally accepted in the clinical literature.An alternative classification has also been suggested, in which an additional category, hemidesmosomal variants, is added to identify blistering that occurs as a result of defects in the hemidesmosomal proteins alpha_6beta_4-integrin, type XVII collagen, and plectin.