Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis.

ABSTRACT:

Objective

Recessive X-linked ichthyosis (RXLI) caused by deficiency of the steroid sulfatase gene (STS) has a reported prevalence of 1/2000 to 1/6000. The present study aimed to characterize the phenotypes and genotypes of two Chinese families with RXLI.

Methods

The patients were referred to the Family Planning Research Institute of Hunan Province for genetic counseling. Their skin phenotypes were photographed, and venous blood was drawn and used for chromosomal microarray analysis (CMA).

Results

The skin phenotype of the proband from the first family was characterized by generalized skin dryness and scaling, with noticeable dark brown, polygonal scales on his trunk and extensor surfaces of his extremities. The proband from the second family had an atypical phe

SUBMITTER: Xie W 

PROVIDER: S-EPMC7545777 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature