Literature DB >> 29186264

Do you know this syndrome? Clouston syndrome.

Sarah Sanches1, Priscila Regina Orso Rebellato1, Andréa Buosi Fabre1, Giovana Liz Marioto de Campos1.   

Abstract

Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings. This study reports a case of a patient who began with changes in hair, nails and palmoplantar keratoderma in early childhood.

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Mesh:

Year:  2017        PMID: 29186264      PMCID: PMC5514592          DOI: 10.1590/abd1806-4841.20175716

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  4 in total

1.  Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.

Authors:  Kazumitsu Sugiura; Masaaki Teranishi; Yoshinari Matsumoto; Masashi Akiyama
Journal:  JAMA Dermatol       Date:  2013-11       Impact factor: 10.282

2.  Light microscopic hair shaft analysis in ectodermal dysplasia syndromes.

Authors:  Stefanie A Hirano; Ashley R Mason; Kimberly Salkey; Judith V Williams; David M Pariser
Journal:  Pediatr Dermatol       Date:  2011-11-16       Impact factor: 1.588

3.  The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.

Authors:  Z Kibar; V M Der Kaloustian; B Brais; V Hani; F C Fraser; G A Rouleau
Journal:  Hum Mol Genet       Date:  1996-04       Impact factor: 6.150

4.  Ectodermal dysplasia (ED) syndrome.

Authors:  Siew-Yin Chee; Chung-Hsing Wanga; Wei-De Lina; Fuu-Jen Tsaia
Journal:  Biomedicine (Taipei)       Date:  2014-11-26
  4 in total

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