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Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.
Features include always present findings: Periorificial hyperkeratosis, Orthokeratosis, Pruritus, and Palmoplantar keratoderma and others; and common findings: Amniotic constriction ring. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 8 | Alopecia universalis, Nail dysplasia, Periorificial hyperkeratosis |
TRPV3 function has not been fully characterized.
Olmsted syndrome 1 is associated with mutations in the TRPV3 gene on chromosome 17.
Genetic testing for TRPV3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Olmsted syndrome 1 has been reported in the published literature.
Phenotype severity distribution: 5 always present features, 1 common feature.
1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.
33 publications have been identified in PubMed for Olmsted syndrome 1. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (21%), and Other (12%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 15 | 45% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Olmsted syndrome 1
Eyes
2 |
Opacification of the corneal stroma, Cloudy or opaque cornea (corneal opacity) |
Muscles | 1 | Flexion contracture |
Arms and legs | 1 | Autoamputation of digits |
Laboratory research |
7 |
21% |
Other research | 4 | 12% |
Disease patterns and progression | 3 | 9% |
Research summaries | 2 | 6% |
Testing and diagnosis research | 1 | 3% |
New treatment approaches | 1 | 3% |
Chattapadhya A (2026). [PMID: 41932384](https://pubmed.ncbi.nlm.nih.gov/41932384/). *Life Sci*. [Basic Science / Preclinical]
Pereira da Conceição R (2026). [PMID: 40859917](https://pubmed.ncbi.nlm.nih.gov/40859917/). *Int J Dermatol*. [Other]
Azulay-Abulafia L (2026). [PMID: 41895212](https://pubmed.ncbi.nlm.nih.gov/41895212/). *An Bras Dermatol*. [Case Report / Case Series]
Holloway A (2026). [PMID: 41787805](https://pubmed.ncbi.nlm.nih.gov/41787805/). *Biophys J*. [Basic Science / Preclinical]
Sadeghzadeh-Bazargan A (2026). [PMID: 41362860](https://pubmed.ncbi.nlm.nih.gov/41362860/). *JAAD Case Rep*. [Case Report / Case Series]
Neblett MF 2nd (2026). [PMID: 41288454](https://pubmed.ncbi.nlm.nih.gov/41288454/). *Menopause*. [Epidemiology / Natural History]
Siriwardene M (2025). [PMID: 40510775](https://pubmed.ncbi.nlm.nih.gov/40510775/). *JAAD Case Rep*. [Case Report / Case Series]
Khoodoruth MAS (2025). [PMID: 40124882](https://pubmed.ncbi.nlm.nih.gov/40124882/). *JAAD Case Rep*. [Case Report / Case Series]
Oktem A (2025). [PMID: 39460427](https://pubmed.ncbi.nlm.nih.gov/39460427/). *Clin Exp Dermatol*. [Case Report / Case Series]
Wittmer AN (2025). [PMID: 39540442](https://pubmed.ncbi.nlm.nih.gov/39540442/). *Int J Dermatol*. [Other]