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角蛋白鱼鳞病研究进展 被引量：2

Advances in keratinopathic ichthyoses
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摘要 角蛋白鱼鳞病即由角蛋白基因缺陷所致的鱼鳞病,其致病基因主要是角蛋白1、角蛋白2和角蛋白10基因。本文详细介绍了先天性大疱性鱼鳞病样红皮病和Siemens大疱性鱼鳞病基因突变的遗传学特点和基因型与临床表型的关系,以及另外四种少见角蛋白鱼鳞病的临床特征及基因遗传学特点。 Keratinopathic ichthyoses is a class of ichthyoses caused by genetic defect of keratin. The major pathogenic genes includes keratin 1, keratin 2 and keratin 10. This review described the genetic characteristics of gene mutation and discussed the relationship between the genotype and phenotype in congenital bullous ichthyosiform erythroderma and ichthyosis bullosa of siemens, as well as the clinical features and genetics characteristics of other four rare keratinopathic ichthyoses.
作者 张芳 张锡宝 ZHANG Fang ZHANG Xibao(Department of Dermatology, Taihe Hospital, Affiliated to Hubei University of Medicine, Shiyan, Hubei 442000, China Guangzhou Institute of Dermatology, Guangzhou 510095, China)
机构地区 湖北医药学院附属太和医院皮肤病中心 广州市皮肤病防治所
出处 《中国麻风皮肤病杂志》 2016年第12期753-756,共4页 China Journal of Leprosy and Skin Diseases
关键词 角蛋白 鱼鳞病 keratin ichthyoses
分类号 R758.52 [医药卫生—皮肤病学与性病学]
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  • 1Siemens HW. Dichtung und Wahrheit tiber die "Ichthyosis bullosa", mit Bemerkungen zur Systematik der Epidermolysen[J]. Arch of Dermatol Res, 1937, 175(5): 590.
  • 2Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in soreze 2009 [J]. J Am Acad Dermatol, 2010, 63(4): 607-641.
  • 3Kremer H, Zeeuwen P, Mclean W H, et al. Iehthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene[J]. J Invest Dermatol, 1994, 103(3): 286-289.
  • 4Rothnagel J A, Traupe H, Wojcik S, et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens[J]. Nat Genet, 1994, 7(4): 485-490.
  • 5Basarab T, Smith F J, Jolliffe V M, et al. Iehthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature[J]. Br J Dermatol, 1999, 140 (4): 689-695.
  • 6Akiyama M, Tsuji-Abe Y, Yanagihara M, et al. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing[J]. Br J Dermatol, 2005, 152(6): 1353-1356.
  • 7Nishizawa A, Toyomaki Y, Nakano A, et al. A novel H1 domain mutation in the-keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens[J]. Br J Dermatol, 2007, 156(5): 1042-1044.
  • 8Arin MJ, Longley MA, Epstein EJ, et al. A novel mutation in the 1A domain of keratin 2e in iehthyosis bullosa of Siemens[J]. J Invest Dermatol, 1999, 112(3): 380-382.
  • 9Smith FJ, Maingi C, Covello SP, et al. Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens[J]. J Invest Dermatol, 1998, 111(5): 817-821.
  • 10Whittock NV, Ashton GH, Griffiths WA, et al. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroder- ma and keratin 2e that cause ichthyosis bullosa of Siemens [J]. Br J Dermatol, 2001, 145(2): 330-335.

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中国麻风皮肤病杂志
2016年 第12期

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