The Genetic Basis of Hereditary Blistering Disorders

Inherited blistering disorders have been classified by inheritance pattern, ultrastructural morphology and level of skin cleavage, and immunofluorescence detection of cutaneous antigens. During the past 5 years, investigators have discovered the molecular bases for the major inherited blistering disorders, epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplantar keratoderma, junctional epidermolysis bullosa, and dystrophic forms of epidermolysis bullosa. In addition to providing answers to patients about the underlying mechanisms of these devastating blistering disorders, the discoveries have provided insight into the function of several cutaneous proteins and have led to the ability to diagnose prenatally these lifelong conditions through genetic analysis in affected families.