Inherited epidermolysis bullosa. Clinical features, molecular genetics, and pathoetiologic mechanisms.
Recent advances in the molecular biology of the extracellular matrix have resulted in a detailed understanding of the cutaneous basement membrane zone. Consequently, the application of this information to the study of the molecular genetics of the genodermatoses has resulted in spectacular success in the last few years. This article summarizes progress made in the molecular biology of the cutaneous basement membrane zone and its impact on understanding the basis of heritable blistering diseases of the skin, with particular emphasis on epidermolysis bullosa.
Uitto
J
J
Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania.
Christiano
A M
AM
D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008040:Genetic Linkage; D015316:Genetic Therapy; D006801:Humans; D010375:Pedigree; D012867:Skin / Q000473:pathology