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autosomal dominant palmoplantar keratoderma and congenital alopecia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant palmoplantar keratoderma and congenital alopecia

MONDO:0007083

Also known as:PPK-CA, Stevanovic typeautosomal dominant palmoplantar hyperkeratosis and congenital alopeciapalmoplantar keratoderma and congenital alopecia type 1

Overview

Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

GeneticsAutosomal dominant · GJA1 (chr 6)

Clinical Presentation

Features include always present findings: Alopecia, Brittle hair, Palmoplantar erythema, and Nail dysplasia and others.

Organ System	Phenotype Count	Example Features
Skin	7	Alopecia, Palmoplantar erythema, Nail dysplasia

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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.

GJA1 encodes gap junction protein alpha 1 (382 aa). Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells. Highest expression in Skin Not Sun Exposed Suprapubic (485.1 TPM) and Adrenal Gland (439.8 TPM).

Autosomal dominant palmoplantar keratoderma and congenital alopecia is associated with mutations in the GJA1 gene on chromosome 6.

The GJA1 protein participates in p-S373-GJA1:p-S-ITGA5:ITGB1 (p-S373-Connexin-43:p-S-Integrin alpha5:Integrin beta1) transports ATP from the cytosol to the extracellular region pathway.

GJA1 is classified as a druggable target (Ion Channel category) with score 0.6.

Diagnosis

Genetic testing for GJA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:104100

Orphanet

European rare disease database

Orphanet:1010

GARD

Genetic and Rare Diseases Info Center

GARD:604

Questions for Your Care Team

→Should I pursue genetic testing for GJA1, 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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autosomal dominant palmoplantar keratoderma and congenital alopecia

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team