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Article

Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

Human molecular genetics - 31 Mar 2022

Pilz Robert, Opálka Lukáš, Majcher Adam, Grimm Elisabeth, Van Maldergem Lionel, Mihalceanu Silvia, Schäkel Knut, Enk Alexander, Aubin François, Bursztejn Anne-Claire, Brischoux-Boucher Elise, Fischer Judith, Sandhoff Roger

Abstract excerpt

Functional skin barrier requires sphingolipid homeostasis; 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene may cause erythrokeratoderma variabilis et progressive-4, later specified as PERIOPTER syndrome, emphasizing a characteristic periorifical and ptychotropic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34686882
DOI: 10.1093/hmg/ddab309

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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