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

Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Bartels NG, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC (2022)

Publication Type: Journal article

Publication year: 2022

Journal

DOI: 10.1001/jamadermatol.2022.2319

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.

Involved external institutions

Rheinische Friedrich-Wilhelms-Universität Bonn Germany (DE) Universität zu Köln Germany (DE) Soroka Medical Center Israel (IL) Johannes Gutenberg-Universität Mainz (JGU) Germany (DE) Charité - Universitätsmedizin Berlin Germany (DE) Nottingham University Hospitals United Kingdom (GB) Odense Universitetshospital (OUH) Denmark (DK) Westfälische Wilhelms-Universität (WWU) Münster Germany (DE) Lausanne University Hospital / Centre hospitalier universitaire vaudois (CHUV) Switzerland (CH) Pontificia Universidad Católica de Chile Chile (CL) Oxford University Hospitals NHS Foundation Trust United Kingdom (GB) Universitätsspital Zürich (USZ) Switzerland (CH) Brighton General Hospital United Kingdom (GB) Balıkesir University / Balıkesir Üniversitesi Turkey (TR) Universitätsklinikum Köln Germany (DE) Sheffield Children's NHS Foundation Trust United Kingdom (GB) Ruprecht-Karls-Universität Heidelberg Germany (DE) University of Antwerp / Universiteit Antwerpen Belgium (BE) Semmelweis University / Semmelweis Egyetem Hungary (HU) Universitat Internacional de Catalunya Spain (ES) Ljubljana University Medical Centre (Ljubljana UMC) / Univerzitetni klinični center Ljubljana Slovenia (SI) Temple Street Children's University Hospital / Children's Health Ireland (CHI) Ireland (IE) Université Fédérale de Toulouse Midi-Pyrénées France (FR) Universitätsklinikum Würzburg Germany (DE) Universität Hohenheim Germany (DE)

How to cite

APA:

Basmanav, F.B., Cesarato, N., Kumar, S., Borisov, O., Kokordelis, P., Ralser, D.J.,... Betz, R.C. (2022). Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals. JAMA Dermatology. https://doi.org/10.1001/jamadermatol.2022.2319

MLA:

Basmanav, F. Buket, et al. "Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals." JAMA Dermatology (2022).

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