Table of Content

Archive

Winter 2000, Vol. 8 No. 4

H.K. Dermatol. Venereol. Bull. (2000) 8, 152-160


Review Article

Molecular Basis of Epidermolysis Bullosa

KY Chow

Abstract
The dermal-epidermal anchoring complex is of critical importance in maintaining tissue integrity in the face of external shearing forces. Well-characterised important components include keratin 5 and 14, BP230, plectin, laminin 5, α 6 β 4 integrin, BP180 and collagen VII. Epidermolysis bullosa simplex is due to mutation involving either keratin 5 or 14 or rarely plectin. Junctional epidermolysis bullosa is due to mutation involving laminin 5, α 6 β 4 integrin or BP180. Dystrophic epidermolysis bullosa is due to mutation involving collagen VII. Understanding the molecular basis of the disease has a significant impact in diagnosis, counselling, prenatal and preimplantation testing, and opens up the possibility of gene therapy.