Recent advances in understanding ichthyosis pathogenesis.
Recent advances in understanding ichthyosis pathogenesis.
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DOI：
10.12688/f1000research.8584.1
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发表时间：
2016-01-01
期刊：
影响因子：
--
通讯作者：
Choate, Keith A
中科院分区：
文献类型：
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作者：
Marukian, Nareh V;Choate, Keith A
鱼鳞病，也称为角质化障碍（DOK），包括由异常屏障功能的常见发现联系的一组异质性皮肤疾病，其启动过度增殖的默认代偿途径，导致局部和/或全身鳞屑的特征性临床表现。鱼鳞病常见的其他皮肤表现包括全身性干燥症、红皮病、掌跖角化病、水肿和复发性感染。2009年，鱼鳞病共识会议建立了基于病理生理学、临床表现和遗传方式的DOK分类共识。该命名系统将DOK分为两大类：非综合征型（临床表现仅限于皮肤）和综合征型（累及其他器官系统）。下一代测序技术的进步使得更快速和更具成本效益的遗传分析成为可能，从而鉴定出导致DOK的新型罕见突变，其中许多突变代表了表型扩增。本文综述了综合征型和非综合征型鱼鳞病的新发现，重点是新的遗传发现，提供深入了解疾病的发病机制。
The ichthyoses, also known as disorders of keratinization (DOK), encompass a heterogeneous group of skin diseases linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the characteristic clinical manifestation of localized and/or generalized scaling. Additional cutaneous findings frequently seen in ichthyoses include generalized xerosis, erythroderma, palmoplantar keratoderma, hypohydrosis, and recurrent infections. In 2009, the Ichthyosis Consensus Conference established a classification consensusfor DOK based on pathophysiology, clinical manifestations, and mode of inheritance. This nomenclature system divides DOK into two main groups: nonsyndromic forms, with clinical findings limited to the skin, and syndromic forms, with involvement of additional organ systems. Advances in next-generation sequencing technology have allowed for more rapid and cost-effective genetic analysis, leading to the identification of novel, rare mutations that cause DOK, many of which represent phenotypic expansion. This review focuses on new findings in syndromic and nonsyndromic ichthyoses, with emphasis on novel genetic discoveries that provide insight into disease pathogenesis.