LAUSR

EB: epidermolysis bullosa EBS: epidermolysis bullosa simplex INTRODUCTION Epidermolysis bullosa (EB) refers to a group of genetic diseases characterized by blistering in response to minor trauma. It is divided into 3 major categories based on the depth of skin blistering, as follows: 1) EB simplex (EBS), 2) junctional EB, and 3) dystrophic EB. A fourth major type was recently proposed and encompasses Kindler syndrome, since this genodermatosis shares with the other 3 major EB types the presence of mechanically fragile skin and blisters, yet, in contrast to all other EB types, typically have cleavage planes within multiple levels of the basement membrane zone. The most recently updated classification of EB was published by Mellerio et al. EBS is most often caused by mutations within the genes encoding for keratin 5 and keratin 14, with the vast majority being autosomal dominantly transmitted. There are currently no approved therapies for any form of inherited EB. Treatments have focused on symptom relief, and the increasing understanding of the pathogenesis of EB is facilitating the development of novel evidencebased therapy approaches. Recent knowledge on disease-secondary mechanisms has led to the development and clinical testing of urgently needed symptom-relief therapies using small molecules and biologicals. For now, day-to-day management of EB focuses on the prevention of mechanical trauma, wound care, avoidance of infection, padding over bony prominences, protective bandaging, and loose-fitting clothes