Herlitz Junctional Epidermolysis Bullosa
Herlitz Junctional Epidermolysis Bullosa
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DOI：
10.1016/j.det.2009.10.006
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发表时间：
2010-01-01
影响因子：
2.4
通讯作者：
Bauer, Johann W.
中科院分区：
文献类型：
--
作者：
Laimer, Martin;Lanschuetzer, Christoph M.;Bauer, Johann W.
大疱性结缔组织表皮松解型Herlitz （JEB- h）是常染色体隐性遗传的，更严重的“溶血性”JEB变种。这种破坏性疾病的特征是出生时全身、广泛的粘膜皮肤起泡和早期致命性，最常见的是由LAMA3、lam3或LAMC2基因的纯合零突变引起的，这些基因分别编码异源三聚体层粘连蛋白332的3条链中的1条。JEB-H亚型通常表现为机械大疱性遗传性皮肤病EB组的严重和临床多样化变体。本文概述了JEB-H的流行病学、表现和诊断。发病率和死亡率高，需要优化方案的早期（包括产前）诊断和姑息治疗。基因治疗仍然是最有希望的方法。
Junctional epidermolysis bullosa type Herlitz (JEB-H) is the autosomal recessively inherited, more severe variant of "lucidolytic" JEB. Characterized by generalized, extensive mucocutaneous blistering at birth and early lethality, this devastating condition is most often caused by homozygous null mutations in the genes LAMA3, LAMB3, or LAMC2, each encoding for 1 of the 3 chains of the heterotrimer laminin-332. The JEB-H subtype usually presents as a severe and clinically diverse variant of the EB group of mechanobullous genodermatoses. This article outlines the epidemiology, presentation, and diagnosis of JEB-H. Morbidity and mortality are high, necessitating optimized protocols for early (including prenatal) diagnosis and palliative care. Gene therapy remains the most promising perspective.