Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.
Type VII collagen is a major component of the anchoring fibrils of the dermal-epidermal adhesion on the dermal side at the lamina densa/papillary dermis interface. Dystrophic epidermolysis bullosa (DEB) emerged as a candidate for type VII collagen mutations becausing anchoring fibrils were shown to be morphologically altered, reduced in number, or completely absent in patients with different forms of DEB. Circulating autoantibodies recognize type VII collagen epitopes in epidermolysis bullosa acquisita. The suggestion that type VII collagen is required for human epidermal tumorigenesis relates to the increasing numbers of life-threatening complications associated with developing squamous cell carcinomas because of the extended life span of affected individuals with recessive DEB.
Chung
Hye Jin
HJ
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA 19107, USA.
Uitto
Jouni
J
D024143:Collagen Type VII / Q000235:genetics* / Q000378:metabolism*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000378:metabolism*; D024021:Fibril-Associated Collagens / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009154:Mutation; D012867:Skin / Q000378:metabolism
D024143:Collagen Type VII; D024021:Fibril-Associated Collagens