The genetics of human skin diseases

Abstract

Molecular genetic analyses during the past half-decade have brought unexpected insights into the molecular defects underlying a wide variety of abnormal skin phenotypes. Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional five keratin genes causing four different abnormal phenotypes, and mutations in β 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16 INK4a gene in 50% of kindreds with familial melanoma.