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erythrokeratodermia variabilis et progressiva 6 (EKVP6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythrokeratodermia variabilis et progressiva 6

MONDO:0032801

Also known as:EKVP6

Overview

GeneticsAutosomal dominant · TRPM4 (chr 19)

OnsetINFANTILE

ResearchLimited published research (4 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: Erythematous plaque. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Erythematous plaque, Pruritus
Heart and blood vessels

Genetic Landscape

TRPM4 function has not been fully characterized.

Erythrokeratodermia variabilis et progressiva 6 is associated with mutations in the TRPM4 gene on chromosome 19.

Diagnosis

Genetic testing for TRPM4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 6.

4 publications have been identified in PubMed for erythrokeratodermia variabilis et progressiva 6. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

Yang Y (2025). [PMID: 40802477](https://pubmed.ncbi.nlm.nih.gov/40802477/). *The Australasian journal of dermatology*. [Case Report / Case Series]
Sánchez-Espino LF (2025). [PMID: 40476394](https://pubmed.ncbi.nlm.nih.gov/40476394/). *Pediatric dermatology*. [Case Report / Case Series]
Çetinarslan T (2024). [PMID: 38886172](https://pubmed.ncbi.nlm.nih.gov/38886172/). *Pediatric dermatology*. [Case Report / Case Series]
Lucaciu SA (2024). [PMID: 39513663](https://pubmed.ncbi.nlm.nih.gov/39513663/). *Biochem J*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618531

GARD

Genetic and Rare Diseases Info Center

GARD:18672

Questions for Your Care Team

→Should I pursue genetic testing for TRPM4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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erythrokeratodermia variabilis et progressiva 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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