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大疱性表皮松解症手部畸形的手术治疗:初步经验与技术

Surgical Management of Hand Deformity in Epidermolysis Bullosa: Initial Experience and Technique.

作者信息

Anstadt Erin E, Turer David M, Spiess Alexander M, Manders Ernest K

机构信息

Department of Plastic Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pa.

出版信息

Plast Reconstr Surg Glob Open. 2020 Mar 11;8(3):e2666. doi: 10.1097/GOX.0000000000002666. eCollection 2020 Mar.

Abstract

Epidermolysis bullosa describes a rare group of genetic mucocutaneous disorders characterized by excessive epithelial fragility resulting in mechanically induced blistering and abnormal wound healing. Its prevalence and incidence are 8.2 and 19.6 per 1,000,000 live births, respectively. Gene therapy, protein replacement, and cell therapy strategies have been investigated, but there is currently no cure..

摘要

大疱性表皮松解症描述了一组罕见的遗传性皮肤黏膜疾病,其特征是上皮细胞过度脆弱,导致机械性诱导水疱形成和伤口愈合异常。其患病率和发病率分别为每100万活产儿8.2例和19.6例。基因治疗、蛋白质替代和细胞治疗策略已被研究,但目前尚无治愈方法。

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