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ORPHA:624

Familial multiple nevi flammei

low confidenceDisorder

Also known as: Familial multiple port-wine stains

Publications

4,125

Trials

31

Interventional, condition-specific

Researchers

918

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Familial multiple nevi flammei is a rare, genetic capillary disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (11)

Nevus flammeus · Salmon patch Nevus · capillary malformations, congenital, 1, somatic, mosaic · familial multiple port-wine stains · port wine Nevus · port wine birthmark · port wine stain · port wine stain of skin · port wine stain of the skin · port wine type hemangioma · port-wine stain of skin

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,125 matched papers (1,864 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Glaucoma; Nevus flammeus; Intellectual disability) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    31 matched on ClinicalTrials.gov (3 recruiting in sample)

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)

24

Associated phenotypes · MONDO:0008094

  • Glaucoma
  • Nevus flammeus
  • Intellectual disability
  • Scoliosis
  • Abnormality of the lower limb

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0008094

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,125

4,125 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

4,125 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,864 in the last 10 years · low confidence

Phrase hits: 4,125 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

918

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wang Y10 papers · 2026

    Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. Electronic address: 408677372@qq.com.

    Papers in Europe PMC
  2. 02
    Liu X7 papers · 2025

    Department of Dermatology and Venereology, Capital Institute of Pediatrics, Capital Institute of Pediatrics-Peking University Teaching Hospital, Beijing, China.

    Papers in Europe PMC
  3. 03
    Li Y6 papers · 2026

    Lab of Low-Dimensional Materials Chemistry, Key Laboratory for Ultrafine Materials of Ministry of Education, Frontier Science Center of the Materials Biology and Dynamic Chemistry, School of Materials Science and Engineering, East China University of Science and Technology, Shanghai, 200237, China.

    Papers in Europe PMC
  4. 04
    Zhang Y6 papers · 2026

    Department of Dermatology, Fourth Medical Center of Chinese PLA General Hospital, Beijing 100048, China; Department of Dermatology, Beijing PuXiang Hospital, China.

    Papers in Europe PMC
  5. 05
    Li D5 papers · 2026

    State Key Laboratory of Multiphase Flow in Power Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China.

    Papers in Europe PMC
  6. 06
    Li M5 papers · 2026

    Department of Dermatology, The First Hospital of Jilin University, Changchun, Jilin, China.

    Papers in Europe PMC
  7. 07
    Wang X5 papers · 2026

    Department of Radiology, Anhui Provincial Children's Hospital, Hefei, China.

    Papers in Europe PMC
  8. 08
    Yang X5 papers · 2026

    Department of Anesthesiology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China; Ministry of Education Key Laboratory of Child Development and Critical Disorders, Chongqing 400014, China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, China; National Clinical Research Center for Child Health and Disorders, Chongqing 400014, China; Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.

    Papers in Europe PMC
  9. 09
    Zhang S5 papers · 2026

    School of Energy and Power Engineering, Jiangsu University, Zhenjiang, 212013, PR China.

    Papers in Europe PMC
  10. 10
    Zhang X5 papers · 2026

    Institute of Engineering Medicine, Beijing Institute of Technology, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

31

interventional trials for this specific condition

31 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

31 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.1th percentile).

low confidence · 96.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

31 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Familial multiple nevi flammei — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Familial multiple nevi flammei" OR "Familial multiple port-wine stains" OR "Nevus flammeus" OR "Salmon patch Nevus" OR "capillary malformations, congenital, 1, somatic, mosaic" OR "port wine Nevus" OR "port wine birthmark" OR "port wine stain" OR "port wine stain of skin" OR "port wine stain of the skin" OR "port wine type hemangioma" OR "port-wine stain of skin" OR "port-wine stain of the skin"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial multiple nevi flammei" OR "Familial multiple port-wine stains" OR "Nevus flammeus" OR "Salmon patch Nevus" OR "capillary malformations, congenital, 1, somatic, mosaic" OR "port wine Nevus" OR "port wine birthmark" OR "port wine stain" OR "port wine stain of skin" OR "port wine stain of the skin" OR "port wine type hemangioma" OR "port-wine stain of skin" OR "port-wine stain of the skin"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 31 interventional · 7 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 (4125) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:36:13.435Z