Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.

ABSTRACT:

Background

Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to the small number of reported cases.

Methods

Thirty patients diagnosed with THES, all molecularly confirmed by whole exome sequencing (WES) to have biallelic variants in TTC37 or SKIV2L, were included in the study. Clinical, biochemical, and nutritional phenotypes and outcome data were collected from all participants.

Results

The median age of THES patients was 3.7 years (0.9-23 years). Diarrhea and malnutrition were the most common clinical features (100%). Other common features included hair abnormalities (96%), skin

SUBMITTER: Alsaleem BM 

PROVIDER: S-EPMC9007078 | biostudies-literature | 2022 Mar-Apr

REPOSITORIES: biostudies-literature