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keratosis palmoplantaris striata 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

keratosis palmoplantaris striata 2

MONDO:0013034

Also known as:DSP striate palmoplantar keratodermakeratosis palmoplantaris striata type 2striate palmoplantar keratoderma caused by mutation in DSP

Overview

Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.

GeneticsAutosomal dominant · DSP (chr 6)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include always present findings: Epidermal acanthosis and Palmoplantar keratoderma. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Abnormal nail morphology, 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.

DSP encodes desmoplakin (2,871 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Skin Sun Exposed Lower leg (1,294 TPM) and Skin Not Sun Exposed Suprapubic (1,155 TPM).

Keratosis palmoplantaris striata 2 is associated with mutations in the DSP gene on chromosome 6.

The DSP protein participates in DSPGs are secreted pathway.

DSP is classified as a druggable target with score 1.8.

Diagnosis

Genetic testing for DSP 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 keratosis palmoplantaris striata 2.

3 publications have been identified in PubMed for keratosis palmoplantaris striata 2. Research spans Review / Meta-Analysis (33%), Clinical Trial Publication (33%), and Basic Science / Preclinical (33%).

Recent Publications

Metze D (2026). [PMID: 42029647](https://pubmed.ncbi.nlm.nih.gov/42029647/). *Dermatopathology (Basel)*. [Basic Science / Preclinical]
Lehavi M (2025). [PMID: 40114115](https://pubmed.ncbi.nlm.nih.gov/40114115/). *BMC pregnancy and childbirth*. [Review / Meta-Analysis]
Gram SB (2025). [PMID: 39630431](https://pubmed.ncbi.nlm.nih.gov/39630431/). *JAMA dermatology*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Oct 23, 2026, 11:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612908

GARD

Genetic and Rare Diseases Info Center

GARD:15590

Questions for Your Care Team

→Should I pursue genetic testing for DSP, 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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keratosis palmoplantaris striata 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