Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
Epidermolysis bullosa, a clinically and genetically diverse group of heritable mechanobullous disorders characterized by skin fragility in the cutaneous basement membrane zone, has become a prototype for the recent progress in molecular genetics of genodermatoses. The different forms of epidermolysis bullosa have been linked to mutations in no less than 10 distinct genes encoding the major structural basement membrane zone proteins. This information has formed a basis for refined molecular classification with prognostic implications, improved genetic counseling, and prenatal and preimplantation genetic diagnosis.
Uitto
Jouni
J
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA. jouni.unito@jefferson.edu
Richard
Gabriele
G
D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000503:physiopathology*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics / Q000503:physiopathology; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics / Q000503:physiopathology; D005260:Female; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008967:Molecular Biology; D009154:Mutation; D011379:Prognosis; D018570:Risk Assessment; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000453:epidemiology
D007633:Keratins