为解决遗传性鱼鳞病（Ichthyoses）分类命名、治疗难题，研究人员围绕儿科患者系统治疗展开研究。结果显示精准分型结合患者期望可缓解症状，阿维 A（Acitretin）是唯一获批的系统治疗药物，新疗法聚焦个性化靶向治疗。这为临床治疗提供参考。

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.

"By highlighting these potential issues to medical professionals treating individuals with congenital ichthyoses in the new guidelines, rates of onward referral to appropriate specialties ...

“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.