先天性鱼鳞病致病基因研究进展

Advances in genes associated with congenital ichthyosis

鱼鳞病由许多型别组成，其中一部分是遗传性疾病。该疾病主要特征是全身皮肤干燥、粗糙和鱼鳞状鳞屑，组织学上绝大部分是角质层增厚。先天性鱼鳞病至少有20种，随着遗传分析技术的进步，此类疾病已经得到了新的认识。该病的发生与组成皮肤屏障的基因突变有关。这些基因编码角质形成细胞有关的结构蛋白、细胞连接蛋白、细胞连接水解、脂质代谢及DNA修复所需酶类。此类疾病由于遗传异质性和临床异质性原因分类复杂。根据遗传模式进行分类，可更好了解基因型一表型之间的关系。

There are a variety of types of ichthyosis, some of which are inherited forms. Ichthyosis is clinically characterized by overall skin dryness, roughness, scaling. Pathologically, most ichthyoses are manifested as the thickening of the stratum corneum. There are at least 20 types of congenital ichthyosis. Progress in genetics has considerably improved the understanding of congenital ichthyosis. It has been demonstrated that the development of ichthyosis is associated with mutations of genes involved in the formation of skin barrier. These genes may encode keratinoeyte-related structural proteins, cell junction proteins, and enzymes responsible for hydrolysis of cell-cell junctions, lipid metabolism and DNA repair. Clinical genetic heterogeneity increases the difficulty in classification of ichthyosis. To classify ichthyosis according to the mode of inheritance may help to understand the genotype-phenotype relationship in ichthyosis.