X linked recessive ichthyosis:Current concepts

• 作者: Jaime Toral-López Luz María González-Huerta Sergio A Cuevas-Covarrubias
• 来源期刊: 世界皮肤病学杂志
• 学科: 医学
• 关键词: STS GENE X-LINKED ICHTHYOSIS Steroid SULFATASE GENE deletion Contiguous GENE syndrome GENODERMATOSIS
• 年，卷（期）: 2015,（3）
• 页码范围: 129-134
• 页数: 6页
• 分类号: R

摘要

In the present review,we describe the most important aspects 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.