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Kindler综合征

Author
Cristina Has, MD
Section Editor
Jonathan A Dyer, MD
Deputy Editor
Rosamaria Corona, MD, DSc
Translators
梁源, 副主任医师

引言

Kindler综合征(Kindler syndrome, KS，MIM# 173650)也称为Weary-Kindler综合征，是一种少见的常染色体隐性遗传型大疱性表皮松解症，特点为皮肤水疱、光敏感性、进展性皮肤异色症(即同时出现皮肤萎缩、毛细血管扩张和色素改变)、广泛性皮肤萎缩，以及皮肤和黏膜发生鳞状细胞癌。其在1954年由Theresa Kindler首次描述，并一直被视为皮肤异色性疾病，直到2008年才被归为一种单独的大疱性表皮松解症[1]。作为第一个和黏着斑蛋白改变有关的遗传性皮肤病，KS及其发病机制成为了解皮肤黏着斑作用的重要模型。

本文将讨论KS的发病机制、临床表现、诊断和处理。其他类型遗传性大疱性表皮松解症将单独讨论。

●(参见“大疱性表皮松解症的流行病学、发病机制和临床表现”)

●(参见“大疱性表皮松解症的诊断”)

●(参见“大疱性表皮松解症治疗概述”)

                     

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Literature review current through: 2017-06 . | This topic last updated: 2017-06-22.
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