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大疱性表皮松解症治疗概述

Authors
Dedee F Murrell, MD
Lizbeth Intong-Wheeler, MD
Section Editor
Jonathan A Dyer, MD
Deputy Editor
Rosamaria Corona, MD, DSc
Translators
王宝玺, 主任医师，教授

引言

大疱性表皮松解症(epidermolysis bullosa, EB)是一组异质性的遗传性机械性大疱疾病，其特点是皮肤结构性蛋白突变引起不同程度的皮肤和黏膜脆性。基于皮肤组织内裂隙所处的超微结构水平，本病主要分为4种类型：单纯型EB、交界型EB、营养不良型EB和Kindler综合征(表 1)[1-3]。疾病严重程度取决于水疱所处的裂隙水平和基因突变的类型，不同亚型的EB严重程度迥异(表 2A-C)。

尽管对EB的治疗是一个活跃的研究领域，但目前仍没有对其的特异性治疗[4-6]。目前对EB患者的治疗主要是支持治疗，包括伤口的处理以及并发症的预防和治疗。

本专题将提供EB的治疗概述。EB的发病机制、临床特征和诊断将单独讨论。 (参见“大疱性表皮松解症的流行病学、发病机制和临床表现”和“大疱性表皮松解症的诊断”)

一般原则

支持治疗 — 各种类型的EB均没有特异性疗法。目前处理主要是支持治疗，包括伤口处理、控制感染、营养支持以及预防和治疗并发症。

EB患者的治疗涉及一个多学科综合团队，通常包括一名皮肤病医生、一名专业EB护士、一名初级保健医护人员、一名技能恢复治疗师、一名营养师和一名社会工作者。如有必要，专科医师(包括胃肠科、眼科、肾病科、血液科、内分泌科、心脏科、疼痛治疗科、整形外科以及专科牙科)应进行会诊。2014年关于遗传性大疱性表皮松解症皮肤治疗的多中心共识推荐强调了这种多学科协作方法[7]。

                                  

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Literature review current through: 2017-06 . | This topic last updated: 2017-02-15.
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