Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation
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Open Access
- 1 August 2021
- journal article
- Published by Elsevier in JAAD Case Reports
- Vol. 14, 55-58
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- A Homozygotic Mutation in KDSR may Cause Keratinization Disorders and Thrombocytopenia: A Case ReportChinese Medical Sciences Journal, 2020
- Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopeniaHaematologica, 2018
- The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornificationJournal of the European Academy of Dermatology and Venereology, 2018
- Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with ThrombocytopeniaJournal of Investigative Dermatology, 2017
- Mutations in KDSR Cause Recessive Progressive Symmetric ErythrokeratodermaThe American Journal of Human Genetics, 2017
- Ceramide signaling in mammalian epidermisBiochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2014
- Harlequin IchthyosisArchives of Dermatology, 2011
- Progressive and symmetric erythrokeratoderma of adult onset: A rare caseIndian Dermatology Online Journal, 2010
- FVT-1 Is a Mammalian 3-Ketodihydrosphingosine Reductase with an Active Site That Faces the Cytosolic Side of the Endoplasmic Reticulum MembraneJournal of Biological Chemistry, 2004