A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
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Published in | JAAD Case Reports Vol. 35; pp. 22 - 24 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
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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Author_xml | – sequence: 1 givenname: Lauren Kerry surname: Knight fullname: Knight, Lauren Kerry email: drlaurenknight@gmail.com organization: Division of Dermatology, Red Cross Children’s Hospital, University of Cape Town, Cape Town, South Africa – sequence: 2 givenname: John surname: McGrath fullname: McGrath, John organization: St John’s Institute of Dermatology and National Diagnostic Epidermolysis Bullosa Laboratory, London, United Kingdom – sequence: 3 givenname: Linda surname: Ozoemena fullname: Ozoemena, Linda organization: St John’s Institute of Dermatology and National Diagnostic Epidermolysis Bullosa Laboratory, London, United Kingdom – sequence: 4 givenname: Riyaadh surname: Roberts fullname: Roberts, Riyaadh organization: Division of Anatomical Pathology, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa – sequence: 5 givenname: Carol surname: Hlela fullname: Hlela, Carol organization: Division of Dermatology, Red Cross Children’s Hospital, University of Cape Town, Cape Town, South Africa |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37089757$$D View this record in MEDLINE/PubMed |
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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 |
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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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