Molecular pathology of the cutaneous basement membrane zone.

Abstract

Recent research has provided considerable information concerning the biology of the cutaneous basement membrane zone (BMZ) in health and disease. In particular, identification of pathogenetic mutations in the genes encoding protein components at the BMZ has done much to increase our understanding of the inherited skin blistering disease, epidermolysis bullosa (EB). As the molecular pathology of different forms of EB is elucidated, correlations between genotype and phenotype become apparent. Determination of specific mutations in patients and families has not only clinical significance, but has also led to the introduction of DNA-based prenatal testing for severe forms of disease, and has laid the foundations for the development of future treatments including gene therapy.