Department of Medical Sciences, Dermatology, Uppsala University, Uppsala, Sweden.
Institute of Human Genetics, University Medical Centre, Freiburg, Germany.
Am J Clin Dermatol. 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x.
Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis, but to some extent also occur in the common type of non-congenital ichthyosis. A correct diagnosis of ichthyosis-essential not only for genetic counseling but also for adequate patient information about prognosis and therapeutic options-is becoming increasingly feasible thanks to recent progress in genetic knowledge and DNA sequencing methods. This paper reviews the most important aspects of nonsyndromic ichthyoses, focusing on new knowledge about the pathophysiology of the disorders, which will hopefully lead to novel ideas about therapy.
遗传性鱼鳞病是由于一个或两个等位基因的 30 多种不同基因突变引起的，主要在上表皮表达。存在综合征性和非综合征性形式的鱼鳞病。无论病因如何，几乎所有类型的鱼鳞病都表现出有缺陷的表皮屏障，这构成了过度角化、皮肤鳞屑和炎症的驱动力。在非综合征性形式中，这些特征在严重的常染色体隐性先天性鱼鳞病 (ARCI) 和表皮松解性鱼鳞病中最为明显，但在某种程度上也存在于常见的非先天性鱼鳞病中。正确诊断鱼鳞病——不仅对于遗传咨询至关重要，而且对于患者关于预后和治疗选择的充分信息也至关重要——由于遗传知识和 DNA 测序方法的最新进展，变得越来越可行。本文综述了非综合征性鱼鳞病的最重要方面，重点介绍了这些疾病病理生理学的新知识，希望能为治疗带来新的思路。
