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先天性非综合征性鱼鳞病的类型。

Types of congenital nonsyndromic ichthyoses.

机构信息

Children's Dermatological Department of the Paediatric Clinic, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic.

Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail.

出版信息

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Dec;164(4):357-365. doi: 10.5507/bp.2020.050. Epub 2020 Oct 21.

Abstract

Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.

摘要

先天性鱼鳞病是一组非常异质性的疾病,表现为皮肤干燥、粗糙和鳞片化。在所有类型的鱼鳞病中,皮肤屏障都受到一定程度的损害。先天性鱼鳞病是由各种基因突变引起的。随着患者年龄的增长,各型的临床表现也有所不同。目前,先天性鱼鳞病的诊断基于分子分析,这也可以进行全面的遗传咨询和遗传预防。将患者转介至专门的医疗中心是合适的,在那里可以确保新生儿科医生、儿科皮肤科医生、遗传学家和其他专家的合作。

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