Zaki Theodore, Choate Keith
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA.
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
F1000Res. 2018 Jun 27;7. doi: 10.12688/f1000research.14514.1. eCollection 2018.
The ichthyoses are a heterogeneous group of skin diseases characterized by localized or generalized scaling or both. Other common manifestations include palmoplantar keratoderma, erythroderma, recurrent infections, and hypohidrosis. Abnormal barrier function is a cardinal feature of the ichthyoses, which results in compensatory hyperproliferation and transepidermal water loss. Barrier function is maintained primarily by the stratum corneum, which is composed of cornified cells surrounded by a corneocyte lipid envelope and intercellular lipid layers. The lipid components are composed primarily of ceramides. Human genetics has advanced our understanding of the role of the epidermal lipid barrier, and a series of discoveries in animals and humans revealed mutations in novel genes causing disorders of keratinization. Recently, next-generation sequencing has further expanded our knowledge, identifying novel mutations that disrupt the ceramide pathway and result in disorders of keratinization. This review focuses on new findings in ichthyoses caused by mutations involving lipid synthesis or function or both.
鱼鳞病是一组异质性皮肤病，其特征为局部或全身性鳞屑或两者皆有。其他常见表现包括掌跖角化病、红皮病、反复感染和少汗症。屏障功能异常是鱼鳞病的主要特征，这会导致代偿性过度增殖和经表皮水分流失。屏障功能主要由角质层维持，角质层由被角质形成细胞脂质包膜和细胞间脂质层包围的角质化细胞组成。脂质成分主要由神经酰胺组成。人类遗传学增进了我们对表皮脂质屏障作用的理解，动物和人类的一系列发现揭示了导致角化障碍的新基因突变。最近，下一代测序进一步扩展了我们的知识，鉴定出破坏神经酰胺途径并导致角化障碍的新突变。本综述重点关注由涉及脂质合成或功能或两者的突变引起的鱼鳞病的新发现。
