CAJ | 학술논문

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-表型之间的关系.
어린병유허다형별조성,기중일부분시유전성질병.해질병주요특정시전신피부간조、조조화어린상린설,조직학상절대부분시각질층증후.선천성어린병지소유20충,수착유전분석기술적진보,차류질병이경득도료신적인식.해병적발생여조성피부병장적기인돌변유관.저사기인편마각질형성세포유관적결구단백、세포련접단백、세포련접수해、지질대사급DNA수복소수매류.차류질병유우유전이질성화림상이질성원인분류복잡.근거유전모식진행분류,가경호료해기인형-표형지간적관계.
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 keratinocyte-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.