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Features include always present findings: Patchy palmoplantar hyperkeratosis.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 1 | Patchy palmoplantar hyperkeratosis |
TRPV3 function has not been fully characterized.
Isolated focal non-epidermolytic palmoplantar keratoderma is associated with mutations in the TRPV3 gene on chromosome 17.
Genetic testing for TRPV3 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:01 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center