ORPHA:2481
Neurocutaneous melanocytosis
Also known as: NCM · Neurocutaneous melanosis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
809
87.1th percentile
Trials
0
Interventional, condition-specific
Researchers
976
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Neurocutaneous melanocytosis (NCM) is a rare neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and neurological impairment, sometimes resulting in death.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009578
- MeSH:C537387
- OMIM:249400
- UMLS:C0544862
- NCIT:C175215
Additional Mondo synonyms (2)
neurocutaneous melanosis · neurocutaneous melanosis, somatic
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
809 matched papers (363 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?
809
809 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=5449) is 41.
809 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).
363 in the last 10 years · medium confidence · 87.1th percentile (publications denominator)
Phrase hits: 809 · MeSH hits: 0
Who's working on it?
976
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.
- 01Khakoo Y8 papers · 2025
Department of Pediatrics and Neurology, Memorial Sloan Kettering Cancer Center, New York, NY, U.S.A.
Papers in Europe PMC - 02Marghoob A7 papers · 2021
Memorial Sloan-Kettering Cancer Center , New York, NY ,
Papers in Europe PMC - 03Salgado CM7 papers · 2025
Department of Pathology, Children's Hospital of Pittsburgh of UPMC and Dietrich School of Arts and Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.
Papers in Europe PMC - 04Basu D6 papers · 2024
Department of Pathology, Children's Hospital of Pittsburgh of UPMC and Dietrich School of Arts and Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.
Papers in Europe PMC - 05
- 06Reyes-Múgica M6 papers · 2025
Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, PA, U.S.A.
Papers in Europe PMC - 07Hawryluk EB5 papers · 2025
Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 08
- 09Krengel S3 papers · 2019
Department of Dermatology, University of Lübeck, Germany.
Papers in Europe PMC - 10
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches 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.
Recruiting or not-yet-recruiting
- NCT04548817·RECRUITING·Neurocutaneous Melanocytosis Registry
Conditions: Cutaneous Melanocytic Neoplasm · Large Cutaneous Melanocytic Nevi · Neurocutaneous Melanocytosis·Matched via name phrase
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.
"Neurocutaneous melanocytosis" OR "Neurocutaneous melanosis" OR "neurocutaneous melanosis, somatic"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neurocutaneous melanocytosis" OR "Neurocutaneous melanosis" OR "neurocutaneous melanosis, somatic" OR "neurocutaneous syndrome"
Recall-expansion terms: neurocutaneous syndrome
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NCM
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T20:17:36.392Z