【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。更多还原

【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.更多还原