Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation
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| Published in: | JAAD Case Reports Vol. 14; pp. 55 - 58 |
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| Main Authors: | , , , , , |
| Format: | Journal Article |
| Language: | English |
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Elsevier Inc
01-08-2021
Elsevier |
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| Author | Alfaraidi, Huda Alhumidi, Ahmed Alshihry, Hind Alkuraya, Fowzan S. Altawil, Lama Alhashem, Amal |
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| Author_xml | – sequence: 1 givenname: Lama surname: Altawil fullname: Altawil, Lama email: Lama.al.tawil@gmail.com organization: Department of Dermatology and Dermatologic Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia – sequence: 2 givenname: Hind surname: Alshihry fullname: Alshihry, Hind organization: Department of Dermatology and Dermatologic Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia – sequence: 3 givenname: Huda surname: Alfaraidi fullname: Alfaraidi, Huda organization: Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia – sequence: 4 givenname: Amal surname: Alhashem fullname: Alhashem, Amal organization: Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia – sequence: 5 givenname: Ahmed surname: Alhumidi fullname: Alhumidi, Ahmed organization: Department of Pathology, King Saud University, Riyadh, Saudi Arabia – sequence: 6 givenname: Fowzan S. surname: Alkuraya fullname: Alkuraya, Fowzan S. organization: Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia |
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| Copyright | 2021 American Academy of Dermatology, Inc. 2021 by the American Academy of Dermatology, Inc. Published by Elsevier, Inc. 2021 American Academy of Dermatology, Inc. |
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| Keywords | Progressive symmetrical erythrokeratoderma ichthyoses HI 3-ketodihydrosphingosine reductase genodermatosis EKVP4 KDSR PSEK harlequin |
| Language | English |
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| References | Boyden, Vincent, Zhou (bib4) 2017; 100 Bariana, Labarque, Heremans (bib8) 2019; 104 Liu, Chen, Wu, Zhu (bib5) 2020; 35 Guaraldi Bde, Jaime, Guaraldi Rde, Melo, Nogueira, Rodrigues (bib1) 2013; 88 Bursztejn, Happle, Charbit (bib6) 2019; 33 Rajpopat, Moss, Mellerio (bib3) 2011; 147 Prabhu, Shenoi, Pai, Handattu, Bhattachan (bib2) 2010; 1 Takeichi, Torrelo, Lee (bib7) 2017; 137 Kihara, Igarashi (bib9) 2004; 279 Uchida (bib10) 2014; 1841 Takeichi (10.1016/j.jdcr.2021.06.006_bib7) 2017; 137 Liu (10.1016/j.jdcr.2021.06.006_bib5) 2020; 35 Bariana (10.1016/j.jdcr.2021.06.006_bib8) 2019; 104 Uchida (10.1016/j.jdcr.2021.06.006_bib10) 2014; 1841 Guaraldi Bde (10.1016/j.jdcr.2021.06.006_bib1) 2013; 88 Boyden (10.1016/j.jdcr.2021.06.006_bib4) 2017; 100 Rajpopat (10.1016/j.jdcr.2021.06.006_bib3) 2011; 147 Kihara (10.1016/j.jdcr.2021.06.006_bib9) 2004; 279 Bursztejn (10.1016/j.jdcr.2021.06.006_bib6) 2019; 33 Prabhu (10.1016/j.jdcr.2021.06.006_bib2) 2010; 1 |
| References_xml | – volume: 100 start-page: 978 year: 2017 end-page: 984 ident: bib4 article-title: Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma publication-title: Am J Hum Genet contributor: fullname: Zhou – volume: 137 start-page: 2344 year: 2017 end-page: 2353 ident: bib7 article-title: Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia publication-title: J Invest Dermatol contributor: fullname: Lee – volume: 35 start-page: 278 year: 2020 end-page: 282 ident: bib5 article-title: A homozygotic mutation in KDSR may cause keratinization disorders and thrombocytopenia: a case report publication-title: Chin Med Sci J contributor: fullname: Zhu – volume: 1 start-page: 43 year: 2010 end-page: 45 ident: bib2 article-title: Progressive and symmetric erythrokeratoderma of adult onset: a rare case publication-title: Indian Dermatol Online J contributor: fullname: Bhattachan – volume: 279 start-page: 49243 year: 2004 end-page: 49250 ident: bib9 article-title: FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane publication-title: J Biol Chem contributor: fullname: Igarashi – volume: 1841 start-page: 453 year: 2014 end-page: 462 ident: bib10 article-title: Ceramide signaling in mammalian epidermis publication-title: Biochim Biophys Acta–Mol Cell Biol Lipids contributor: fullname: Uchida – volume: 147 start-page: 681 year: 2011 end-page: 686 ident: bib3 article-title: Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases publication-title: Arch Dermatol contributor: fullname: Mellerio – volume: 104 start-page: 1036 year: 2019 end-page: 1045 ident: bib8 article-title: Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia publication-title: Haematologica contributor: fullname: Heremans – volume: 88 start-page: 109 year: 2013 end-page: 112 ident: bib1 article-title: Eritroqueratodermia simétrica progressiva–Relato de caso publication-title: An Bras Dermatol contributor: fullname: Rodrigues – volume: 33 start-page: e1 year: 2019 end-page: e3 ident: bib6 article-title: The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification publication-title: J Eur Acad Dermatol Venereol contributor: fullname: Charbit – volume: 88 start-page: 109 issue: 1 year: 2013 ident: 10.1016/j.jdcr.2021.06.006_bib1 article-title: Eritroqueratodermia simétrica progressiva–Relato de caso publication-title: An Bras Dermatol contributor: fullname: Guaraldi Bde – volume: 147 start-page: 681 issue: 6 year: 2011 ident: 10.1016/j.jdcr.2021.06.006_bib3 article-title: Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases publication-title: Arch Dermatol doi: 10.1001/archdermatol.2011.9 contributor: fullname: Rajpopat – volume: 35 start-page: 278 issue: 3 year: 2020 ident: 10.1016/j.jdcr.2021.06.006_bib5 article-title: A homozygotic mutation in KDSR may cause keratinization disorders and thrombocytopenia: a case report publication-title: Chin Med Sci J doi: 10.24920/003656 contributor: fullname: Liu – volume: 104 start-page: 1036 issue: 5 year: 2019 ident: 10.1016/j.jdcr.2021.06.006_bib8 article-title: Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia publication-title: Haematologica doi: 10.3324/haematol.2018.204784 contributor: fullname: Bariana – volume: 100 start-page: 978 issue: 6 year: 2017 ident: 10.1016/j.jdcr.2021.06.006_bib4 article-title: Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2017.05.003 contributor: fullname: Boyden – volume: 137 start-page: 2344 issue: 11 year: 2017 ident: 10.1016/j.jdcr.2021.06.006_bib7 article-title: Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia publication-title: J Invest Dermatol doi: 10.1016/j.jid.2017.06.028 contributor: fullname: Takeichi – volume: 1 start-page: 43 issue: 1 year: 2010 ident: 10.1016/j.jdcr.2021.06.006_bib2 article-title: Progressive and symmetric erythrokeratoderma of adult onset: a rare case publication-title: Indian Dermatol Online J doi: 10.4103/2229-5178.73261 contributor: fullname: Prabhu – volume: 279 start-page: 49243 issue: 47 year: 2004 ident: 10.1016/j.jdcr.2021.06.006_bib9 article-title: FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane publication-title: J Biol Chem doi: 10.1074/jbc.M405915200 contributor: fullname: Kihara – volume: 33 start-page: e1 issue: 1 year: 2019 ident: 10.1016/j.jdcr.2021.06.006_bib6 article-title: The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification publication-title: J Eur Acad Dermatol Venereol doi: 10.1111/jdv.15089 contributor: fullname: Bursztejn – volume: 1841 start-page: 453 issue: 3 year: 2014 ident: 10.1016/j.jdcr.2021.06.006_bib10 article-title: Ceramide signaling in mammalian epidermis publication-title: Biochim Biophys Acta–Mol Cell Biol Lipids doi: 10.1016/j.bbalip.2013.09.003 contributor: fullname: Uchida |
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| SubjectTerms | 3-ketodihydrosphingosine reductase Case Report EKVP4 genodermatosis harlequin ichthyoses KDSR Progressive symmetrical erythrokeratoderma PSEK |
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| Title | Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation |
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