Advances in X-linked ichthyosis

Abstract

X-linked ichthyosis (XU) is a relatively common X-linked recessive cutaneous keratinization disorder.It is clinically characterized by skin dryness,large adherent brown scales,and may becomplicated by extracutaneous manifestations including corneal opacities,cryptorchidism,and abnormalitiesassociated with some syndromes.Most recent studies have shown that XLI is caused by the absence or mutationof steroid sulfatase (STS) gene encoding steroid sulfates.Concurrent abnormalities of STS and filaggrin (FLG)genes are usually associated with a more severe phenotype.Since histopathological findings are nonspecific,the diagnosis of XU is usually based on clinical features,and mainly confirmed by biochemical detection and genetic analysis.Recently,in-depth studies have been performed on the pathogenesis of XLI,and some progress has been made in pathogenesis-targeted therapy for XLI. Key words: X-linked ichthyosis ; Steryl-sulfatase ; Hyperkeratosis ;