Literature DB >> 31049339

Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease.

Yuval Ramot1, Abraham Zlotogorski1, Vered Molho-Pessach1.   

Abstract

Uncombable hair syndrome (UHS) is a unique hair shaft disease characterized by frizzy, straw-colored hair, which is resistant to combing and brushing. Familial cases have been described, and recently mutations in genes related to trichohyalin production have been reported as the cause for this condition. UHS usually manifests during early childhood, and gradually resolves at puberty. Herein, we report on a 2-year-old boy whose hair changed to a UHS-like phenotype "overnight" with no apparent trigger. The condition resolved abruptly after 9 months. Genetic analysis revealed a heterozygous variant in the PLCD1 gene, which has been connected to hair development. This case raises the possibility that a genetic cause can lead to a temporary change in hair shaft appearance, possibly after exposure to a yet unknown external trigger.

Entities:  

Keywords:  Hair; Pili trianguli et canaliculi; Uncombable hair syndrome

Year:  2018        PMID: 31049339      PMCID: PMC6489048          DOI: 10.1159/000493649

Source DB:  PubMed          Journal:  Skin Appendage Disord        ISSN: 2296-9160


  12 in total

Review 1.  The twisting tale of woolly hair: a trait with many causes.

Authors:  Yuval Ramot; Abraham Zlotogorski
Journal:  J Med Genet       Date:  2015-01-05       Impact factor: 6.318

2.  Uncombable hair syndrome with a woolly hair nevus.

Authors:  Suchetha Subba Swamy; B C Ravikumar; K N Vinay; D P Yashovardhana; Archit Aggarwal
Journal:  Indian J Dermatol Venereol Leprol       Date:  2017 Jan-Feb       Impact factor: 2.545

3.  Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.

Authors:  Maija Kiuru; Mazen Kurban; Munenari Itoh; Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Angela M Christiano
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

Review 4.  Molecular genetics of alopecias.

Authors:  Yuval Ramot; Abraham Zlotogorski
Journal:  Curr Probl Dermatol       Date:  2015-02-20

5.  Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair.

Authors:  Yuval Ramot; Vered Molho-Pessach; Tomer Meir; Ruslana Alper-Pinus; Ihab Siam; Spiro Tams; Sofia Babay; Abraham Zlotogorski
Journal:  J Med Genet       Date:  2014-03-26       Impact factor: 6.318

6.  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

7.  Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes.

Authors:  Alan J Stewart; Joy Mukherjee; Scott J Roberts; Douglas Lester; Colin Farquharson
Journal:  Int J Mol Med       Date:  2005-01       Impact factor: 4.101

8.  Comparison of hair shaft damage after UVA and UVB irradiation.

Authors:  Soo-Young Jeon; Long Quan Pi; Won-Soo Lee
Journal:  J Cosmet Sci       Date:  2008 Mar-Apr       Impact factor: 0.948

9.  Hair color changes and protein damage caused by ultraviolet radiation.

Authors:  Ana Carolina Santos Nogueira; Ines Joekes
Journal:  J Photochem Photobiol B       Date:  2004-05-27       Impact factor: 6.252

10.  Phospholipase C-delta1 is an essential molecule downstream of Foxn1, the gene responsible for the nude mutation, in normal hair development.

Authors:  Yoshikazu Nakamura; Manabu Ichinohe; Masayuki Hirata; Hirokazu Matsuura; Takashi Fujiwara; Takahiro Igarashi; Masamichi Nakahara; Hideki Yamaguchi; Sadao Yasugi; Tadaomi Takenawa; Kiyoko Fukami
Journal:  FASEB J       Date:  2007-10-15       Impact factor: 5.191

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.