Published online Aug 2, 2015. doi: 10.5314/wjd.v4.i3.129
Peer-review started: November 22, 2014
First decision: January 8, 2015
Revised: May 8, 2015
Accepted: May 27, 2015
Article in press: May 28, 2015
Published online: August 2, 2015
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.
Core tip: In the present study we describe the current knowledge of historical, clinical, epidemiological, physiopathological and molecular data in the X-linked ichthyosis (XLI). We consider that this review is important due to XLI is one of the most frequent genodermatosis that affects similarly to different ethnic groups worldwide.