Genetic Blistering Diseases

Abstract

AbstractResilient in health, the structural integrity of skin can become impaired or break down in a collection of inherited skin diseases, referred to as the blistering genodermatoses. Most disorders are classified as a form of epidermolysis bullosa, although there is clinical and molecular heterogeneity. These conditions arise from gene mutations in a variety of structural and signalling proteins and manifest clinically as blisters or erosions following minor skin trauma, sometimes with extracutaneous manifestations including gastrointestinal, cardiac and ocular complications. In recent years, an improved understanding of the molecular basis of the blistering genodermatoses has led to better disease classification and advancement of translational research with the advent of new clinical trials of gene, protein, cell, drug and small molecule therapies.