EPIDERMOLYSIS-BULLOSA - A SPECTRUM OF CLINICAL PHENOTYPES EXPLAINED BY MOLECULAR HETEROGENEITY

Great progress has recently been made in understanding the molecular b asis of various heritable skin diseases, A prototype of such condition s is epidermolysis bullosa (EB), a heterogeneous group of mechano-bull ous disorders characterized by fragility of the skin and other special ized epithelia, Blistering of the skin in EB results either from fragi lity of epidermal cells or from defective attachment of the epidermis to the underlying dermis, because of genetic lesions within molecules of the basement-membrane zone at the dermal-epidermal junction, Distin ct mutations have been discovered in ten different genes encoding the structural components within this layer, The combinations and the type s of mutations, as well as their positions in the altered gene product s, collectively reflect the phenotypic variability observed in this gr oup of heritable skin diseases.