中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (11): 840-844.doi: 10.12144/zgmfskin202311840

• 综述 • 上一篇    下一篇

先天性常染色体隐性遗传性鱼鳞病基因与表型研究进展

孙喆1,2,吴哲3,姚志荣1,2   

  1. 1上海交通大学医学院附属新华医院皮肤科，上海，200092；2上海交通大学医学院附属皮肤病研究所，上海，200092；3上海市儿童医院，上海交通大学医学院附属儿童医院皮肤科，上海，200062
  • 出版日期:2023-11-15 发布日期:2023-10-27

Update of genes and phenotypes of autosomal recessive congenital ichthyosis

SUN Zhe1,2, WU Zhe3, YAO Zhirong1,2   

  1. 1 Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China；2 Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China；3 Department of Dermatology, Shanghai Children’s hospital, School of medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200062, China
  • Online:2023-11-15 Published:2023-10-27

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摘要： 先天性常染色体隐性遗传性鱼鳞病（ARCI）和多种基因变异相关，这些基因的表达下降或功能缺失与ARCI患者表皮鳞屑增多、屏障功能受损和皮肤失水量增多相关。不同基因变异患者的临床表型不同，病情的轻重程度也有差异。本文就ARCI相关基因变异，结合其临床表型及病理，对ARCI研究的最新进展进行综述。

关键词: 儿童, 先天性常染色体隐性遗传性鱼鳞病, 基因变异, 表型

Abstract: Autosomal recessive congenital ichthyosis (ARCI) has been reported to be associated with variety of genetic mutations. Low expression or loss of function of these proteins due to the gene mutations may result in accumulated scales, impaired barrier function and skin increased water loss. Meanwhile, we find that the clinical phenotypes of patients are different with mutated genes and so as the severity of symptoms and recovery status. The update of ARCI related gene variants, clinical phenotype and pathology were reviewed in this paper.

Key words: childhood, autosomal recessive congenital ichthyosis, gene mutation, phenotypes