鱼鳞病（ichthyoses）就是一组严重的皮肤病，主要表现为皮肤干燥，伴有鱼鳞状脱屑。 研究人员近日发现，KDSR基因中的突变似乎与这种疾病存在关联。 耶鲁大学医学院的Lynn Boyden领导的研究团队对鱼鳞病患者的外显子组进行测序，以揭示KDSR基因中的突变。

Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. This ...

Ichthyoses involve a group of genetic disorders, caused by the inheritance of a fault or defective gene. Several mutations linked to different types of ichthyoses have been discovered over the years.

遗传性鱼鳞病（Ichthyoses）是一类罕见的、病因和临床特征多样的表皮角化障碍性疾病。其特点是皮肤过度干燥、鳞屑增多，部分患者手掌和足底角化加重。常伴有炎症，有些类型还会出现水疱。在鉴别诊断时，尤其是伴有红皮病的鱼鳞病，必须与原发性免疫缺陷相关的特应性疾病相区分。 研究旨在 ...

“Ichthyoses are a family of genetic skin disorders occurring because of abnormal skin turnover. There is significant variability in the appearance of different kinds of ichthyotic conditions.

More information: Juliette Mazereeuw-Hautier et al, Management of congenital ichthyoses: guidelines of care: Part two: 2024 update, British Journal of Dermatology (2025). DOI: 10.1093/bjd/ljaf077 ...