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Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation.

作者信息

Altawil Lama, Alshihry Hind, Alfaraidi Huda, Alhashem Amal, Alhumidi Ahmed, Alkuraya Fowzan S

机构信息

Department of Dermatology and Dermatologic Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

出版信息

JAAD Case Rep. 2021 Jun 12;14:55-58. doi: 10.1016/j.jdcr.2021.06.006. eCollection 2021 Aug.

DOI:10.1016/j.jdcr.2021.06.006
PMID:34277909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8261470/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f706/8261470/e3e6d1872de6/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f706/8261470/0e77b851389f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f706/8261470/8d0b4a691165/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f706/8261470/e3e6d1872de6/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f706/8261470/0e77b851389f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f706/8261470/8d0b4a691165/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f706/8261470/e3e6d1872de6/gr3.jpg

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A Homozygotic Mutation in may Cause Keratinization Disorders and Thrombocytopenia: A Case Report.一种可能导致角化障碍和血小板减少的 基因突变：病例报告。
Chin Med Sci J. 2020 Sep 30;35(3):278-282. doi: 10.24920/003656.
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Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22.
3
The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.
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Front Pediatr. 2022 Jul 26;10:940618. doi: 10.3389/fped.2022.940618. eCollection 2022.
围口周及趋褶性红皮病综合征（PERIOPTER综合征）：一种新的角化孟德尔遗传病。
J Eur Acad Dermatol Venereol. 2019 Jan;33(1):e1-e3. doi: 10.1111/jdv.15089. Epub 2018 Jun 13.
4
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.KDSR双等位基因突变破坏神经酰胺合成并导致一系列与血小板减少相关的角化障碍。
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5
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Am J Hum Genet. 2017 Jun 1;100(6):978-984. doi: 10.1016/j.ajhg.2017.05.003.
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