Nagashima-type palmoplantar keratoderma: A little-known palmoplantar keratoderma in Europe
Nagashima-type palmoplantar keratoderma: A little-known palmoplantar keratoderma in Europe
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DOI：
10.1016/j.annder.2018.11.005
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发表时间：
2019-02-01
影响因子：
0.9
通讯作者：
Martin, L.
中科院分区：
文献类型：
--
作者：
Chassain, K.;Croue, A.;Martin, L.
背景。在此，我们报告一例在法国被收养的中国女孩患掌足底角化病。-患者，6岁，自出生以来就出现了越界性PPK，并在充血性炎症发作时出现红斑进展，掌足底多汗症和进行性特征（除了手掌和脚底，即肘部和膝盖以外的摩擦区域出现中度角化过度）。皮肤活检的组织病理学检查显示表皮厚，冠部延长和增厚。上皮呈厚颗粒层。电镜显示角化过度伴颗粒增多，角蛋白体板层结构缺失，角质层细胞间分裂。分子研究显示SERPINB7基因存在两个复合杂合突变，从而可以诊断出nagashima型PPK （NPPK）。NPPK是一种常染色体隐性遗传病，由丝氨酸蛋白酶抑制剂超家族成员SERPINB7突变引起。1977年，Nagashima对其进行了描述，Kubo在2013年对其进行了分子表征。它是亚洲最普遍的PPK形式（日本患病率为1.2/10,000，中国患病率为3.1/10,000）。它与其他ppk的区别在于浸润性软角化过度、炎症发作和多汗症，以及它的非进行性。在本病例中，尽管临床表现具有特征性，但仅通过对一组超过50个负责PPK的基因进行测序才能做出诊断。这种疾病在欧洲实际上鲜为人知。这项研究强调了涉及使用基因面板的诊断调查方法的重要性日益增加。(C) 2018 Elsevier Masson SAS。版权所有。
Background. - Herein we present a case of palmoplantar keratoderma (PPK) in a young adopted girl of Chinese origin living in France.Observation. - The patient, aged six years, had presented transgressive PPK since birth, as well as erythema progressing in congestive inflammatory episodes, palmoplantar hyperhidrosis and progressive characteristics (moderate hyperkeratosis in areas of rubbing other than the palms and soles, namely the elbows and knees). Histopathological examination of a skin biopsy revealed a thick epidermis with lengthening and thickening of crests. The epithelium displayed a thick granular layer. Electron microscopy showed hyperorthokeratosis with hypergranulosis and loss of lamellar structure of the keratinosomes, as well as cleavage between corneocytes. Molecular studies showed the presence of two composite heterozygous mutations of the SERPINB7 gene, enabling a diagnosis of Nagashima-type PPK (NPPK) to be made.Discussion. - NPPK is an autosomal recessive disease caused by a mutation in the SERPINB7, a member of the superfamily of serine protease inhibitors. It was described by Nagashima in 1977 with molecular characterisation by Kubo following in 2013. It is the most widespread form of PPK in Asia (with a prevalence of 1.2/10,000 in Japan and 3.1/10,000 in China). It is distinguished from the other PPKs in terms of transgressive soft hyperkeratosis, inflammatory episodes and hyperhidrosis, as well as by its non-progressive nature. In the present case, white the clinical presentation was characteristic, diagnosis was only made thanks to sequencing of a panel of over 50 genes responsible for PPK. The disease is effectively little-known in Europe. This study highlights the increasing importance of diagnostic investigation methods involving the use of gene panels. (C) 2018 Elsevier Masson SAS. All rights reserved.