Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

ABSTRACT:

Importance

Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far.

Objective

To elucidate the genetic spectrum of UHS.

Design, setting, and participants

This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021.

Main outcomes and measures

C

SUBMITTER: Basmanav FB 

PROVIDER: S-EPMC9434486 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature