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palmoplantar keratoderma, epidermolytic, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

palmoplantar keratoderma, epidermolytic, 2

MONDO:0957303

Overview

GeneticsAutosomal dominant · KRT1 (chr 12)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include always present findings: Palmoplantar hyperkeratosis. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Palmoplantar hyperkeratosis

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.

KRT1 encodes keratin 1 (644 aa). May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). Highest expression in Skin Not Sun Exposed Suprapubic (15,626 TPM) and Skin Sun Exposed Lower leg (14,326 TPM).

Palmoplantar keratoderma, epidermolytic, 2 is associated with mutations in the KRT1 gene on chromosome 12.

KRT1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for KRT1 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 palmoplantar keratoderma, epidermolytic, 2.

9 publications have been identified in PubMed for palmoplantar keratoderma, epidermolytic, 2. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (38%), and Gene Therapy / Novel Therapeutics (13%).

Recent Publications

Liu J (2026). [PMID: 41656929](https://pubmed.ncbi.nlm.nih.gov/41656929/). *The Journal of dermatology*. [Basic Science / Preclinical]
Steiner SN (2025). [PMID: 41000774](https://pubmed.ncbi.nlm.nih.gov/41000774/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Lin D (2025). [PMID: 40993822](https://pubmed.ncbi.nlm.nih.gov/40993822/). *Hereditas*. [Gene Therapy / Novel Therapeutics]
Cao Y (2025). [PMID: 41173088](https://pubmed.ncbi.nlm.nih.gov/41173088/). *The Journal of investigative dermatology*. [Basic Science / Preclinical]
Lin C (2025). [PMID: 41601798](https://pubmed.ncbi.nlm.nih.gov/41601798/). *Frontiers in medicine*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620411

Questions for Your Care Team

→Should I pursue genetic testing for KRT1, 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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palmoplantar keratoderma, epidermolytic, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team