X linked recessive ichthyosis: Current concepts  

作　　者：Jaime Toral-López Luz María González-Huerta Sergio A Cuevas-Covarrubias 

机构地区：[1]Departamento de Genética Médica, Centro Médico Ecatepec, Instituto de Seguridad Social del Estado de México y Municipios, Ecatepec, Estado de México CP 55000, México [2]Departamento de Genética Médica, Hospital General de México/Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México CP 06726, México

出　　处：《World Journal of Dermatology》2015年第3期129-134,共6页世界皮肤病学杂志

摘　　要：In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.

关 键 词：STS GENE X-LINKED ICHTHYOSIS Steroid SULFATASE GENE deletion Contiguous GENE syndrome GENODERMATOSIS 

分 类 号：R[医药卫生]