EPIDERMOLYSIS-BULLOSA - PATHOGENETIC PATHWAYS FROM MUTATIONS TO SYMPTOMS

Recent developments of the molecular and cell biology of the cutaneous basement membrane zone have greatly advanced our understanding of the pathomechanisms underlying skin blistering disorders. The heritable blistering diseases, the epidermolysis bullosa group, have been investigated as model diseases. Defects in genes coding for the structural proteins of the basement membrane zone have been defined in some EB subtypes and abnormal expression of the structural proteins in others. In vitro studies utilizing cutaneous cells derived from epidermolysis bullosa skin have helped to understand the pathogenetic pathways that lead from the mutation to the symptom, skin blistering. The data accumulated from analyses of the genetic disorders will yield indirect information on the normal physiology of the skin and be highly relevant for discerning the etiopathogenesis of acquired blistering diseases and for dermal-epidermal interactions required for reparative processes, such as wound healing.