Inherited epidermolysis bullosa: New diagnostic criteria and classification
Inherited epidermolysis bullosa: New diagnostic criteria and classification
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DOI：
10.1016/j.clindermatol.2011.03.012
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发表时间：
2012-01-01
影响因子：
2.7
通讯作者：
Murrell, Dedee F.
中科院分区：
文献类型：
--
作者：
Intong, Lizbeth R. A.;Murrell, Dedee F.
大疱性表皮松解症 (EB) 是一组由皮肤中各种结构蛋白突变引起的遗传性机械性大疱性疾病。自 19 世纪末首次引入 EB 分类以来，它的分类已经取得了一些进展。现在，根据目标蛋白的位置和水疱的水平，我们认识到 EB 的四种主要类型：单纯 EB（表皮松解性）、交界性 EB（解透明质）、营养不良性 EB（皮肤松解性）和金德勒综合征（混合程度的水疱）。本贡献将总结最新的分类，并讨论相关的分子基础、靶基因和蛋白质。我们还纳入了新的亚型，例如由于肌张力障碍 (DST) 基因突变而导致的常染色体显性交界 EB 和常染色体隐性 EB，该基因编码大疱性类天疱疮抗原 1 的上皮亚型。还将讨论主要的实验室诊断技术 - 免疫荧光图谱、透射电子显微镜和突变分析。最后，将回顾不同主要 EB 类型和亚型的临床特征。 (C) 2012 Elsevier Inc. 保留所有权利。
Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural proteins in the skin. There have been several advances in the classification of EB since it was first introduced in the late 19th century. We now recognize four major types of EB, depending on the location of the target proteins and level of the blisters: EB simplex (epidermolytic), junctional EB (lucidolytic), dystrophic EB (dermolytic), and Kindler syndrome (mixed levels of blistering). This contribution will summarize the most recent classification and discuss the molecular basis, target genes, and proteins involved. We have also included new subtypes, such as autosomal dominant junctional EB and autosomal recessive EB due to mutations in the dystonin (DST) gene, which encodes the epithelial isoform of bullouspemphigoid antigen 1. The main laboratory diagnostic techniques-immunofluorescence mapping, transmission electron microscopy, and mutation analysis-will also be discussed. Finally, the clinical characteristics of the different major EB types and subtypes will be reviewed. (C) 2012 Elsevier Inc. All rights reserved.