| 角蛋白鱼鳞病研究进展 |
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| 引用本文： | 张芳,张锡宝. 角蛋白鱼鳞病研究进展[J]. 中国麻风皮肤病杂志, 2016, 32(12): 753-756 |
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| 作者姓名： | 张芳 张锡宝 |
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| 作者单位： | 1湖北医药学院附属太和医院皮肤病中心，湖北十堰，4420002广州市皮肤病防治所，广州，510095 |
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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。
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| 关 键 词： | 角蛋白 鱼鳞病 |
Advances in keratinopathic ichthyoses |
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| ZHANG Fang,ZHANG Xibao. Advances in keratinopathic ichthyoses[J]. China Journal of Leprosy and Skin Diseases, 2016, 32(12): 753-756 |
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| Authors: | ZHANG Fang ZHANG Xibao |
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| Affiliation: | 1. Department of Dermatology, Taihe Hospital, Affiliated to Hubei University of Medicine, Shiyan, Hubei 442000, China; 2. Guangzhou Institute of Dermatology, Guangzhou 510095, China |
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| Abstract: | 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 characteris￣tics 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. |
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| Keywords: | keratin ichthyoses |
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