摘要
丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。常具有显著的临床表现，大多数患儿死产或于产后早期死亡。近来，丑角样鱼鳞病遗传学发病机制的研究取得很大进展，发现了导致丑角样鱼鳞病发病的致病基因及其相关分子。目前认为，ABCA12是角质包膜中参与脂质转运的角质细胞脂质转运子，它的功能缺失导致角质层脂质转运出现障碍从而引起丑角样鱼鳞病发病。对丑角样鱼鳞病致病基因及其功能的研究有助于丑角样鱼鳞病的诊断、遗传咨询及治疗。
Harlequin ichthyosis （ HI ） is a severe subtype of autosomal recessive congenital ichthyoses （ARCI）. HI often has typical clinical manifestations and is fatal in most of affected newborns. Recently, much progress has been made in the researches about the genetic pathomechanism of HI, and it has been identified about the causative genes and related molecules of HI. Now it is considered that ABCA12 is a keratinocyte lipid transporter in the stratum comeum, and functional loss of ABCA12 may lead to a disturbance in lipid transfer, which in turn results in the onset of HI. The study on HI-related genes and their function may benefit the diagnosis, genetic counseling and treatment of this disease.
出处
《国际皮肤性病学杂志》
2007年第4期216-218,共3页
International Journal of Dermatology and Venereology
