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erythrokeratodermia variabilis et progressiva 4 (EKVP4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythrokeratodermia variabilis et progressiva 4

MONDO:0033014

Also known as:EKVP4

Overview

GeneticsAutosomal recessive · KDSR (chr 18)

OnsetNEONATAL

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Erythema, Palmoplantar hyperkeratosis, and Thickened, rough skin (hyperkeratosis); and sometimes findings: Congenital nonbullous ichthyosiform erythroderma. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4	Erythema, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KDSR encodes 3-ketodihydrosphingosine reductase (332 aa). Catalyzes the reduction of 3'-oxosphinganine (3-ketodihydrosphingosine/KDS) to sphinganine (dihydrosphingosine/DHS), the second step of de novo sphingolipid biosynthesis Highest expression in Nerve Tibial (48.9 TPM) and Artery Aorta (44.3 TPM).

Erythrokeratodermia variabilis et progressiva 4 is caused by mutations in the KDSR gene on chromosome 18.

The KDSR protein participates in KDSR reduces 3-ketosphingoid pathway.

KDSR is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, and Short Chain Dehydrogenase Reductase categories) with score 0.0.

Diagnosis

Genetic testing for KDSR is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for erythrokeratodermia variabilis et progressiva 4.

6 publications have been identified in PubMed for erythrokeratodermia variabilis et progressiva 4. Research spans Review / Meta-Analysis (50%), Other (33%), and Basic Science / Preclinical (17%).

Recent Publications

Saito N (2026). [PMID: 41589029](https://pubmed.ncbi.nlm.nih.gov/41589029/). *J Dermatol*. [Other]
Ren W (2026). [PMID: 41814845](https://pubmed.ncbi.nlm.nih.gov/41814845/). *J Dermatol*. [Other]
Morikawa-Yujiri Y (2026). [PMID: 42173623](https://pubmed.ncbi.nlm.nih.gov/42173623/). *J Pharmacol Sci*. [Basic Science / Preclinical]
Dubot P (2025). [PMID: 38706107](https://pubmed.ncbi.nlm.nih.gov/38706107/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Akiyama M (2025). [PMID: 40308026](https://pubmed.ncbi.nlm.nih.gov/40308026/). *Br J Dermatol*. [Review / Meta-Analysis]
Lucaciu SA (2024). [PMID: 39513663](https://pubmed.ncbi.nlm.nih.gov/39513663/). *Biochem J*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617526

GARD

Genetic and Rare Diseases Info Center

GARD:18590

Questions for Your Care Team

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erythrokeratodermia variabilis et progressiva 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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