THE GENETICS OF HUMAN SKIN DISEASES

Molecular genetic analyses during the past half-decade have brought un expected insights into the molecular defects underlying a wide variety of abnormal skin phenotypes. Highlights of the efforts in the past ye ar include the identification of mutations in an epidermal transglutam inase gene in lamellar ichthyosis as well as mutations in an additiona l five keratin genes causing four different abnormal phenotypes, and m utations in beta(4) integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16(lNK4a) gene in 50% of kindreds with familial melanoma.