ORPHA:2875
Phakomatosis pigmentovascularis
Publications
310
74.1th percentile
Trials
0
Interventional, condition-specific
Researchers
969
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017318
- MeSH:C537894
- UMLS:C1274879
Additional Mondo synonyms (2)
phakomatosis pigmentovascularis · port-wine stain with oculocutaneous melanosis
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
310 matched papers (151 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
310
310 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
310 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
151 in the last 10 years · medium confidence · 74.1th percentile (publications denominator)
Phrase hits: 310 · MeSH hits: 0
Who's working on it?
969
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Kinsler VA7 papers · 2024
Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
Papers in Europe PMC - 02Zhang Y6 papers · 2025
Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, Florida.
Papers in Europe PMC - 03Abdolrahimzadeh S5 papers · 2023
Ophthalmology Unit, DAI Testa/Collo, Azienda Policlinico Umberto I, University of Rome "Sapienza", viale del Policlinico 155, Rome, Italy. solmazzadeh@gmail.com.
Papers in Europe PMC - 04Happle R5 papers · 2023
Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
Papers in Europe PMC - 05Jiang X5 papers · 2025
Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610017, China.
Papers in Europe PMC - 06Polubothu S5 papers · 2024
Great Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
Papers in Europe PMC - 07Torchia D4 papers · 2026
Department of Dermatology, Queen Elizabeth Hospital, King's Lynn, UK.
Papers in Europe PMC - 08Baselga E3 papers · 2025
Pediatric Dermatology Department, Barcelona Children's Hospital Sant Joan de Dèu, Barcelona, Cataluña, Spain.
Papers in Europe PMC - 09Hodapp E3 papers · 2016Papers in Europe PMC
- 10Hu M3 papers · 2024
Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Phakomatosis pigmentovascularis" OR "port-wine stain with oculocutaneous melanosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Phakomatosis pigmentovascularis" OR "port-wine stain with oculocutaneous melanosis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (310) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T21:30:35.489Z