Literature DB >> 19700017

Uncombable hair syndrome.

Pamela Calderon1, Nina Otberg, Jerry Shapiro.   

Abstract

Uncombable hair syndrome is a relatively rare anomaly of the hair shaft, with less than 100 cases reported to date, that results in a disorganized, unruly hair pattern that is impossible to comb flat. The characteristic longitudinal grooves along the hair shaft, along with the triangular or kidney-shaped cross section allows this condition to be diagnosed microscopically. The majority of cases are inherited in an autosomal-dominant manner with either complete or incomplete penetrance. There is no definitive treatment, and most cases improve with the onset of puberty.

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Year:  2009        PMID: 19700017     DOI: 10.1016/j.jaad.2009.01.006

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  3 in total

1.  Hair That Is Difficult to Manage in a Hispanic Girl.

Authors:  Adriana Villarreal-Rodríguez; Sonia Chávez-Alvarez; Ivett Miranda-Maldonado; Maira Elizabeth Herz-Ruelas
Journal:  Skin Appendage Disord       Date:  2017-07-20

2.  Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Authors:  F Buket Ü Basmanav; Laura Cau; Aylar Tafazzoli; Marie-Claire Méchin; Sabrina Wolf; Maria Teresa Romano; Frederic Valentin; Henning Wiegmann; Anne Huchenq; Rima Kandil; Natalie Garcia Bartels; Arzu Kilic; Susannah George; Damian J Ralser; Stefan Bergner; David J P Ferguson; Ana-Maria Oprisoreanu; Maria Wehner; Holger Thiele; Janine Altmüller; Peter Nürnberg; Daniel Swan; Darren Houniet; Aline Büchner; Lisa Weibel; Nicola Wagner; Ramon Grimalt; Anette Bygum; Guy Serre; Ulrike Blume-Peytavi; Eli Sprecher; Susanne Schoch; Vinzenz Oji; Henning Hamm; Paul Farrant; Michel Simon; Regina C Betz
Journal:  Am J Hum Genet       Date:  2016-11-17       Impact factor: 11.025

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

Authors:  F Buket Basmanav; Nicole Cesarato; Sheetal Kumar; Oleg Borisov; Pavlos Kokordelis; Damian J Ralser; Maria Wehner; Daisy Axt; Xing Xiong; Holger Thiele; Vadim Dolgin; Yasmina Gossmann; Nadine Fricker; Malin Katharina Dewenter; Karsten Weller; Mohnish Suri; Herbert Reichenbach; Vinzenz Oji; Marie-Claude Addor; Karla Ramirez; Helen Stewart; Natalie Garcia Bartels; Lisa Weibel; Nicola Wagner; Susannah George; Arzu Kilic; Iliana Tantcheva-Poor; Alison Stewart; Nicola Dikow; Bettina Blaumeiser; Márta Medvecz; Ulrike Blume-Peytavi; Paul Farrant; Ramon Grimalt; Sara Bertok; Lisa Bradley; Marina Eskin-Schwartz; Ohad Samuel Birk; Anette Bygum; Michel Simon; Peter Krawitz; Christine Fischer; Henning Hamm; Günter Fritz; Regina C Betz
Journal:  JAMA Dermatol       Date:  2022-08-31       Impact factor: 11.816

  3 in total

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