Department of Medicine (Dermatology), Vanderbilt University School of Medicine, National Epidermolysis Bullosa Registry, Nashville, TN, USA.
Ann N Y Acad Sci. 2010 Apr;1194:213-22. doi: 10.1111/j.1749-6632.2010.05463.x.
Inherited epidermolysis bullosa encompasses dozens of diseases characterized by mechanical fragility of the skin, blister formation, and abnormal wound healing. Most of the more severe subtypes are associated with clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. Over the past two decades substantial advances have been made to our understanding of the underlying molecular basis for each member of this protean group of diseases. Research has now shifted toward the identification of therapeutic interventions, to include gene therapy, recombinant protein infusions, intradermal injection of allogeneic fibroblasts, and stem cell transplantation, that might eventually lead to a definitive cure for this disease. Other developing therapies being explored are directed toward the enhancement of wound healing and the prevention of potentially life-threatening skin cancers in these patients.
遗传性大疱性表皮松解症包括数十种疾病,其特征为皮肤机械脆弱、水疱形成和异常伤口愈合。大多数更严重的亚型与临床上显著的皮肤外并发症相关。一些亚型可能导致死亡,甚至在婴儿早期。在过去的二十年中,我们对这组疾病的每个成员的潜在分子基础有了更深入的了解。研究现在已经转向寻找治疗干预措施,包括基因治疗、重组蛋白输注、同种异体成纤维细胞皮内注射和干细胞移植,这些措施最终可能为这种疾病提供明确的治愈方法。正在探索的其他发展中的治疗方法旨在增强这些患者的伤口愈合能力和预防潜在危及生命的皮肤癌。