Autosomal recessive congenital ichthyosis.

Abstract

The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathing suit ichthyosis. The combined prevalence of LI and CIE has been estimated at 1 case per 138 000 to 300 000 population. In some countries or regions, such as Norway and the coast of Galicia, the prevalence may be higher due to founder effects. ARCI is genetically highly heterogeneous and has been associated with 6 genes to date: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, and ABCA12. In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects.

• Authors: L Rodríguez-Pazos, M Ginarte, A Vega, J Toribio
• Journal: Actas dermo-sifiliograficas (Actas Dermosifiliogr) Vol. 104 Issue 4 Pg. 270-84 (May 2013) ISSN: 1578-2190 [Electronic] Spain
• PMID: 23562412 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2011 Elsevier España, S.L. and AEDV. All rights reserved.

Topics

• Genes, Recessive
• Humans
• Ichthyosiform Erythroderma, Congenital (diagnosis, genetics, therapy)
• Ichthyosis, Lamellar (diagnosis, genetics, therapy)