biostudies-literatureUnknown158(11)Basmanav FB<h4>Importance</h4>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.<h4>Objective</h4>To elucidate the genetic spectrum of UHS.<h4>Design, setting, and participants</h4>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.<h4>Main outcomes and measures</h4>CJAMA dermatology1245-1253https://www.ebi.ac.uk/biostudies/studies/S-EPMC9434486biostudies-literatureAssessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.PMC9434486Addor MCReichenbach HSimon MWeibel LBasmanav FBHamm HBetz RCThiele HDolgin VMedvecz MWeller KOji VKumar SXiong XDikow NFritz GStewart HGarcia Bartels NCesarato NGeorge SStewart ABirk OSRalser DJGossmann YKokordelis PDewenter MKWehner MKrawitz PRamirez KBorisov OBlaumeiser BKilic ATantcheva-Poor IEskin-Schwartz MAxt DFricker NSuri MWagner NFischer CBradley LGrimalt RBertok SBlume-Peytavi UFarrant PBygum AfalseAssessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.<h4>Importance</h4>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.<h4>Objective</h4>To elucidate the genetic spectrum of UHS.<h4>Design, setting, and participants</h4>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.<h4>Main outcomes and measures</h4>C2022-01-01T00:00:00Z2022 Nov2026-05-28T01:26:38.423Z2024-11-08T09:57:27.004ZS-EPMC94344863604423010.1001/jamadermatol.2022.2319