ORPHA:79455
Cutaneous mastocytoma
Also known as: Cutaneous local mastocytoma · Multiple mastocytoma · Solitary mastocytoma
Publications
336
74.6th percentile
Trials
0
Interventional, condition-specific
Researchers
996
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019314
- UMLS:C0343115
Additional Mondo synonyms (3)
cutaneous local mastocytoma · multiple mastocytoma · solitary mastocytoma
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
336 matched papers (157 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?
336
336 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.
336 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).
157 in the last 10 years · high confidence · 74.6th percentile (publications denominator)
Phrase hits: 336 · MeSH hits: 0
Who's working on it?
996
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.
- 01Lange M11 papers · 2026
Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdańsk, Poland.
Papers in Europe PMC - 02Valent P10 papers · 2025
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Vienna, Austria.
Papers in Europe PMC - 03Hartmann K9 papers · 2026
Department of Dermatology, University of Cologne, Cologne, Germany.
Papers in Europe PMC - 04Arock M8 papers · 2025
Laboratory of Hematology, Pitié-Salpêtrière Hospital, Paris, France.
Papers in Europe PMC - 05Brockow K7 papers · 2024
Department of Dermatology and Allergy Biederstein, School of Medicine, Technical University of Munich, Munich, Germany.
Papers in Europe PMC - 06Alvarez-Twose I6 papers · 2026
Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast) and CIBERONC, Hospital Virgen del Valle, Toledo, Spain.
Papers in Europe PMC - 07Hermine O6 papers · 2025
French Reference Center for Mastocytosis (CEREMAST), Hôpital Necker, Assistance Publique Hôpitaux de Paris, Imagine Institute, University Paris Descartes, Paris, France.
Papers in Europe PMC - 08Horny HP6 papers · 2025
Institute of Pathology, Paracelsus Medical University Salzburg, Austria.
Papers in Europe PMC - 09Nedoszytko B6 papers · 2023
Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Poland.
Papers in Europe PMC - 10Carter MC5 papers · 2026
Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, Maryland, USA.
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.
high 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.
"Cutaneous mastocytoma" OR "Cutaneous local mastocytoma" OR "Multiple mastocytoma" OR "Solitary mastocytoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cutaneous mastocytoma" OR "Cutaneous local mastocytoma" OR "Multiple mastocytoma" OR "Solitary mastocytoma"
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
Ingested 2026-07-27T02:26:32.369Z