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Features include very common findings: Nevus flammeus, Hypopigmented skin patches, Cerebral cortical atrophy, and Paresthesia and others; and common findings: Glaucoma, Seizure, EEG abnormality, and Cerebral calcification and others. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Seizure, Cerebral cortical atrophy, Cerebral calcification |
Phenotype severity distribution: 7 very common features, 5 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for phakomatosis pigmentovascularis.
13 publications have been identified in PubMed for phakomatosis pigmentovascularis. Research spans Case Report / Case Series (62%), Epidemiology / Natural History (15%), and Clinical Trial Publication (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 62% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:14 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Skin |
2 |
Hypopigmented skin patches, Generalized hyperpigmentation |
Head and neck | 1 | Facial asymmetry |
Eyes | 1 | Glaucoma |
Muscles | 1 | Cerebral cortical atrophy |
Bones and joints | 1 | Low bone density (reduced bone mineral density) |
Disease patterns and progression
2 |
15% |
Clinical study results | 1 | 8% |
Laboratory research | 1 | 8% |
New treatment approaches | 1 | 8% |
Alshehri A (2026). [PMID: 42088778](https://pubmed.ncbi.nlm.nih.gov/42088778/). *Case Rep Ophthalmol Med*. [Case Report / Case Series]
Chen K (2026). [PMID: 41810224](https://pubmed.ncbi.nlm.nih.gov/41810224/). *Clinical case reports*. [Case Report / Case Series]
Bai P (2026). [PMID: 41890785](https://pubmed.ncbi.nlm.nih.gov/41890785/). *American journal of ophthalmology case reports*. [Case Report / Case Series]
He R (2026). [PMID: 41864397](https://pubmed.ncbi.nlm.nih.gov/41864397/). *Photodiagnosis and photodynamic therapy*. [Case Report / Case Series]
Uthayo P (2025). [PMID: 40744635](https://pubmed.ncbi.nlm.nih.gov/40744635/). *BMJ case reports*. [Case Report / Case Series]
Babu M (2025). [PMID: 41100395](https://pubmed.ncbi.nlm.nih.gov/41100395/). *Indian journal of dermatology, venereology and leprology*. [Case Report / Case Series]
Kolipaka GP (2025). [PMID: 39950872](https://pubmed.ncbi.nlm.nih.gov/39950872/). *Journal of glaucoma*. [Epidemiology / Natural History]
Kolipaka GP (2025). [PMID: 41371407](https://pubmed.ncbi.nlm.nih.gov/41371407/). *Ophthalmol Glaucoma*. [Clinical Trial Publication]
Abtahi-Naeini B (2025). [PMID: 41018993](https://pubmed.ncbi.nlm.nih.gov/41018993/). *Clinical case reports*. [Epidemiology / Natural History]
Dilli A (2025). [PMID: 39866269](https://pubmed.ncbi.nlm.nih.gov/39866269/). *AME case reports*. [Case Report / Case Series]