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erythrokeratodermia variabilis et progressiva 2 (EKVP2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythrokeratodermia variabilis et progressiva 2

MONDO:0033012

Also known as:EKVP2

Overview

GeneticsAutosomal dominant · GJB4 (chr 1)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include always present findings: Skin plaque and Erythema. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Skin plaque, Erythema, Palmoplantar keratoderma

Explore clinical features

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.

GJB4 encodes gap junction protein beta 4 (266 aa). Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. Highest expression in Skin Not Sun Exposed Suprapubic (44.3 TPM) and Skin Sun Exposed Lower leg (43.6 TPM).

Erythrokeratodermia variabilis et progressiva 2 is associated with mutations in the GJB4 gene on chromosome 1.

GJB4 is classified as a druggable target (Ion Channel category) with score 0.0.

Diagnosis

Genetic testing for GJB4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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 2.

5 publications have been identified in PubMed for erythrokeratodermia variabilis et progressiva 2. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

Hua S (2026). [PMID: 41296677](https://pubmed.ncbi.nlm.nih.gov/41296677/). *Clinical and experimental dermatology*. [Case Report / Case Series]
Sánchez-Espino LF (2025). [PMID: 40476394](https://pubmed.ncbi.nlm.nih.gov/40476394/). *Pediatr Dermatol*. [Case Report / Case Series]
Lucaciu SA (2025). [PMID: 39817844](https://pubmed.ncbi.nlm.nih.gov/39817844/). *J Physiol*. [Basic Science / Preclinical]
Ma Y (2025). [PMID: 41186431](https://pubmed.ncbi.nlm.nih.gov/41186431/). *Dermatology reports*. [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, 2:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617524

GARD

Genetic and Rare Diseases Info Center

GARD:18588

Questions for Your Care Team

→Should I pursue genetic testing for GJB4, 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?

← Back to All Diseases

erythrokeratodermia variabilis et progressiva 2

Overview

Clinical Presentation

Explore clinical features

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