Bone marrow transplantation in epidermolysis bullosa

Abstract

Epidermolysis bullosa (EB) is a heterogeneous group of inherited blistering skin diseases. Severe forms of EB are associated with increased morbidity and mortality, and there is currently no effective treatment. To combat severe complications of EB, such as chronic erosions, scarring and malignancy, effective therapy needs to be given systemically and at an early age. One recent therapeutic advancement has been a clinical trial of whole bone marrow (BM) transplantation in children with the dystrophic form of EB. This led to correction of the inherent skin basement membrane defect and better skin integrity in some individuals. The challenge now is to precisely identify which BM cells contribute to skin recovery and what mechanisms are involved in tissue regeneration. An improved understanding of the key aspects of BM skin repair is likely to lead to significant health improvements for patients with EB and other skin diseases.