Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report.

ABSTRACT:

Background

Lanosterol synthase (LSS) is essential for cholesterol biosynthesis and impacts embryonic development and growth. LSS gene variants have been associated with various conditions such as congenital hypotrichosis and cataracts, but the genotype-phenotype relationship remains not well understood.

Case presentation

Herein, we report an 8-year-old boy presenting with congenital hypotrichosis and intermittent exotropia, but without any ocular movement abnormalities or cataracts. His hair exhibited sparse distribution with a yellow color, reduced strength, and minimal growth. Scanning electron microscopy revealed abnormal keratinization of the hair shafts, characterized by irregular, jagged scales and raised edges. Whole-exome sequencing identified compound heteroz

SUBMITTER: Bao L 

PROVIDER: S-EPMC12069456 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature