A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter

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Published inJAAD Case Reports Vol. 35; pp. 22 - 24
Main Authors Knight, Lauren Kerry, McGrath, John, Ozoemena, Linda, Roberts, Riyaadh, Hlela, Carol
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.05.2023
Elsevier
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Author Hlela, Carol
Knight, Lauren Kerry
Ozoemena, Linda
Roberts, Riyaadh
McGrath, John
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Cites_doi 10.1016/j.jid.2016.04.039
10.1001/archderm.1948.01520220103009
10.1016/j.ceb.2014.12.008
10.1046/j.1523-1747.2001.01292.x
10.1016/j.jaad.2009.11.020
10.1371/journal.pone.0195792
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Copyright 2023 American Academy of Dermatology, Inc.
2023 by the American Academy of Dermatology, Inc. 2023 American Academy of Dermatology, Inc.
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Keywords hystrix
congenital ichthyosiform erythroderma
ichthyosis
genodermatoses
pediatric dermatology
keratin 10
Language English
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References Toivola, Boor, Alam, Strnad (bib1) 2015; 32
Coulombe (bib3) 2017; 137
Sprecher, Ishida-Yamamoto, Becker (bib6) 2001; 116
Terrinoni, Didona, Caporali (bib7) 2018; 13
Oji, Tadini, Akiyama (bib2) 2010; 63
Marmelzat (bib4) 1948; 58
Fleckman, JJ (bib5) 2012
Toivola (10.1016/j.jdcr.2023.02.015_bib1) 2015; 32
Fleckman (10.1016/j.jdcr.2023.02.015_bib5) 2012
Oji (10.1016/j.jdcr.2023.02.015_bib2) 2010; 63
Sprecher (10.1016/j.jdcr.2023.02.015_bib6) 2001; 116
Terrinoni (10.1016/j.jdcr.2023.02.015_bib7) 2018; 13
Coulombe (10.1016/j.jdcr.2023.02.015_bib3) 2017; 137
Marmelzat (10.1016/j.jdcr.2023.02.015_bib4) 1948; 58
References_xml – volume: 13
  year: 2018
  ident: bib7
  article-title: Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin
  publication-title: PLoS One
  contributor:
    fullname: Caporali
– volume: 32
  start-page: 73
  year: 2015
  end-page: 81
  ident: bib1
  article-title: Keratins in health and disease
  publication-title: Curr Opin Cell Biol
  contributor:
    fullname: Strnad
– volume: 58
  start-page: 349
  year: 1948
  end-page: 353
  ident: bib4
  article-title: Story of the original porcupine men; classic descriptions of ichthyosis hystrix
  publication-title: Arch Derm Syphilol
  contributor:
    fullname: Marmelzat
– start-page: 507
  year: 2012
  end-page: 538
  ident: bib5
  article-title: The ichthyoses
  publication-title: Fitzpatrick’s Dermatology in General Medicine
  contributor:
    fullname: JJ
– volume: 137
  start-page: e67
  year: 2017
  end-page: e71
  ident: bib3
  article-title: The molecular revolution in cutaneous biology: keratin genes and their associated disease: diversity, opportunities, and challenges
  publication-title: J Invest Dermatol
  contributor:
    fullname: Coulombe
– volume: 63
  start-page: 607
  year: 2010
  end-page: 641
  ident: bib2
  article-title: Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
  publication-title: J Am Acad Dermatol
  contributor:
    fullname: Akiyama
– volume: 116
  start-page: 511
  year: 2001
  end-page: 519
  ident: bib6
  article-title: Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix
  publication-title: J Invest Dermatol
  contributor:
    fullname: Becker
– volume: 137
  start-page: e67
  issue: 5
  year: 2017
  ident: 10.1016/j.jdcr.2023.02.015_bib3
  article-title: The molecular revolution in cutaneous biology: keratin genes and their associated disease: diversity, opportunities, and challenges
  publication-title: J Invest Dermatol
  doi: 10.1016/j.jid.2016.04.039
  contributor:
    fullname: Coulombe
– volume: 58
  start-page: 349
  issue: 3
  year: 1948
  ident: 10.1016/j.jdcr.2023.02.015_bib4
  article-title: Story of the original porcupine men; classic descriptions of ichthyosis hystrix
  publication-title: Arch Derm Syphilol
  doi: 10.1001/archderm.1948.01520220103009
  contributor:
    fullname: Marmelzat
– start-page: 507
  year: 2012
  ident: 10.1016/j.jdcr.2023.02.015_bib5
  article-title: The ichthyoses
  contributor:
    fullname: Fleckman
– volume: 32
  start-page: 73
  year: 2015
  ident: 10.1016/j.jdcr.2023.02.015_bib1
  article-title: Keratins in health and disease
  publication-title: Curr Opin Cell Biol
  doi: 10.1016/j.ceb.2014.12.008
  contributor:
    fullname: Toivola
– volume: 116
  start-page: 511
  issue: 4
  year: 2001
  ident: 10.1016/j.jdcr.2023.02.015_bib6
  article-title: Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix
  publication-title: J Invest Dermatol
  doi: 10.1046/j.1523-1747.2001.01292.x
  contributor:
    fullname: Sprecher
– volume: 63
  start-page: 607
  issue: 4
  year: 2010
  ident: 10.1016/j.jdcr.2023.02.015_bib2
  article-title: Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
  publication-title: J Am Acad Dermatol
  doi: 10.1016/j.jaad.2009.11.020
  contributor:
    fullname: Oji
– volume: 13
  issue: 4
  year: 2018
  ident: 10.1016/j.jdcr.2023.02.015_bib7
  article-title: Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0195792
  contributor:
    fullname: Terrinoni
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SubjectTerms Case Report
congenital ichthyosiform erythroderma
genodermatoses
hystrix
ichthyosis
keratin 10
pediatric dermatology
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Title A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
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