title: Treatment of hereditary epidermolysis bullosa: updates and future prospects.
abstract: Epidermolysis bullosa (EB) represents a group of inherited blistering skin diseases, some forms of which are associated with considerable morbidity and increased mortality. Notably, in recessive dystrophic EB there can be extensive muco-cutaneous fragility and disease complications such as scars, contractures, anemia, malnutrition, and malignancy. Currently, there is no effective therapy or cure for EB. Over the last decade, however, a number of important advances have been made that are bringing new treatments closer to the clinic, including gene therapy, protein replacement therapy, cell therapies [allogeneic fibroblasts, mesenchymal stromal cells (MSCs), bone marrow stem cell transplantation, culturing/grafting revertant mosaic keratinocytes], gene editing/engineering, and clinical application of inducible pluripotent stem cells. Although a cure for EB still remains elusive, recent data on animal models and initial human clinical trials have raised the expectations of patients, clinicians, and researchers that disease modification and improved quality of life are feasible goals. Furthermore, the lessons learned in treating EB are likely to have significant implications for improving the management of other genetic diseases.
authors.affiliation: Department of Dermatology, College of Medicine, National Cheng Kung University Medical Center, Tainan, Taiwan.
authors.forename: Chao-Kai
authors.initials: CK
authors.lastname: Hsu
authors.forename: Sheng-Pei
authors.initials: SP
authors.lastname: Wang
authors.forename: Julia Yu-Yun
authors.initials: JY
authors.lastname: Lee
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D000818:Animals; D064987:Cell- and Tissue-Based Therapy / Q000379:methods; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D011788:Quality of Life