porokeratosis of Mibelli
Findings
No curated finding names porokeratosis of Mibelli yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.
Definition from the Mondo Disease Ontology (MONDO:0019141), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- PorokeratosisHPOHP:0200044
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Frequent (30% to 79% of cases)
- PruritusHPOHP:0000989
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of