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Features include always present findings: Porokeratosis. 2 total HPO annotations.
PMVK function has not been fully characterized.
Porokeratosis 1, Mibelli type is associated with mutations in the PMVK gene on chromosome 1.
Genetic testing for PMVK is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for porokeratosis 1, Mibelli type has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for porokeratosis 1, Mibelli type.
100 publications have been identified in PubMed for porokeratosis 1, Mibelli type. Research spans Case Report / Case Series (51%), Review / Meta-Analysis (15%), and Other (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 50 | 51% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
15 |
15% |
Other research | 14 | 14% |
Testing and diagnosis research | 5 | 5% |
Laboratory research | 4 | 4% |
Disease patterns and progression | 4 | 4% |
New treatment approaches | 4 | 4% |
Clinical study results | 2 | 2% |
Lo HM (2026). [PMID: 41787503](https://pubmed.ncbi.nlm.nih.gov/41787503/). *Australas J Dermatol*. [Case Report / Case Series]
Alrabiah R (2026). [PMID: 42218042](https://pubmed.ncbi.nlm.nih.gov/42218042/). *Oral Surg Oral Med Oral Pathol Oral Radiol*. [Case Report / Case Series]
Liu W (2026). [PMID: 42139042](https://pubmed.ncbi.nlm.nih.gov/42139042/). *JAMA Dermatol*. [Epidemiology / Natural History]
Yang Y (2026). [PMID: 41240373](https://pubmed.ncbi.nlm.nih.gov/41240373/). *Br J Dermatol*. [Basic Science / Preclinical]
Etaee F (2026). [PMID: 41798138](https://pubmed.ncbi.nlm.nih.gov/41798138/). *JAAD Case Rep*. [Case Report / Case Series]
Jin S (2026). [PMID: 40434053](https://pubmed.ncbi.nlm.nih.gov/40434053/). *J Eur Acad Dermatol Venereol*. [Case Report / Case Series]
Aguero R (2026). [PMID: 41912153](https://pubmed.ncbi.nlm.nih.gov/41912153/). *Dermatol Pract Concept*. [Clinical Trial Publication]
Zheng Y (2026). [PMID: 41387188](https://pubmed.ncbi.nlm.nih.gov/41387188/). *J Dermatol*. [Case Report / Case Series]
Busch DA (2026). [PMID: 40828376](https://pubmed.ncbi.nlm.nih.gov/40828376/). *Dermatologie (Heidelb)*. [Case Report / Case Series]
Lai S (2026). [PMID: 42234282](https://pubmed.ncbi.nlm.nih.gov/42234282/). *J Appl Genet*. [Basic Science / Preclinical]