Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Dermatol. Aug 2, 2015; 4(3): 129-134
Published online Aug 2, 2015. doi: 10.5314/wjd.v4.i3.129
X linked recessive ichthyosis: Current concepts
Jaime Toral-López, Luz María González-Huerta, Sergio A Cuevas-Covarrubias
Jaime Toral-López, Departamento de Genética Médica, Centro Médico Ecatepec, Instituto de Seguridad Social del Estado de México y Municipios, Ecatepec, Estado de México CP 55000, México
Luz María González-Huerta, Sergio A Cuevas-Covarrubias, Departamento de Genética Médica, Hospital General de México/Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México CP 06726, México
Author contributions: Toral-López J, González-Huerta LM and Cuevas-Covarrubias SA performed the review.
Conflict-of-interest statement: The authors declare no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Dr. Sergio A Cuevas-Covarrubias, Departamento de Genética Médica, Hospital General de México/Facultad de Medicina, Universidad Nacional Autónoma de México, Dr. Balmis 148 Col. Doctores, Ciudad de México CP 06726, México.
Telephone: +52-55-27892000 Fax: +52-55-53412821
Received: November 22, 2014
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.

Keywords: STS gene, X-linked ichthyosis, Steroid sulfatase, Gene deletion, Contiguous gene syndrome, Genodermatosis

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.