ORPHA:300512
Onychomatricoma
Publications
280
76.8th percentile
Trials
0
Interventional, condition-specific
Researchers
682
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported.
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:0017587
- UMLS:C4751078
Additional Mondo synonyms (6)
nail matrix neoplasm · nail matrix tumor · nail matrix tumour · neoplasm of nail matrix · tumor of nail matrix · tumour of nail matrix
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
280 matched papers (179 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?
280
280 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.
280 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).
179 in the last 10 years · medium confidence · 76.8th percentile (publications denominator)
Phrase hits: 280 · MeSH hits: 0
Who's working on it?
682
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.
- 01Perrin C16 papers · 2026
*The Laboratoire Central d'Anatomie Pathologique, Hôpital L. Pasteur, University of Nice, Nice, France; †Nail's Dermatology Consultations, Cannes, France; ‡UOC Dermatologia, Ospedale Civile, Imperia, Italia; §Division of Genetic of Skin Carcinogenesis, Section of Normal and Neoplastic Epidermal Differentiation, German Cancer Research Center, Heidelberg, Germany; ¶Department of Pathology, West Kent Oncology Center, Maidstone Hospital, Hermitage Lane, England; ‖Service de Chirurgie Plastique, University of Nice, Nice, France; and **Institut Polyclinique de Cannes, Cannes, France.
Papers in Europe PMC - 02Rubin AI9 papers · 2024
Department of Dermatology, Hospital of the University of Pennsylvania, 3600 Spruce Street, 2 Maloney, Philadelphia, PA 19104, USA; The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 03Tosti A9 papers · 2024
Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, University of Miami, Miami, 1600 Northwest 10th Avenue, FL 33136, USA. Electronic address: atosti@med.miami.edu.
Papers in Europe PMC - 04Thomas L8 papers · 2024
Department of Dermatology, Centre Hospitalier Lyon-Sud, Hospices Civils de Lyon, Lyon, France.
Papers in Europe PMC - 05Ambrosetti D7 papers · 2024
Laboratoire Central d'Anatomie Pathologique, Hôpital L. Pasteur, University of Nice, Nice, France.
Papers in Europe PMC - 06Di Chiacchio N6 papers · 2025
Dermatologic Clinic, Hospital do Servidor Publico Municipal de São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 07Grover C6 papers · 2026
Department of Dermatology and STD, University College of Medical Sciences and Guru Teg Bahadur Hospital, New Delhi, India.
Papers in Europe PMC - 08Lee D6 papers · 2026
Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Papers in Europe PMC - 09Park JH6 papers · 2024
Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Papers in Europe PMC - 10Piraccini BM6 papers · 2023
Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
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.
"Onychomatricoma" OR "nail matrix neoplasm" OR "nail matrix tumor" OR "nail matrix tumour" OR "neoplasm of nail matrix" OR "neoplasm of the nail matrix" OR "tumor of nail matrix" OR "tumor of the nail matrix" OR "tumour of nail matrix" OR "tumour of the nail matrix"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Onychomatricoma" OR "nail matrix neoplasm" OR "nail matrix tumor" OR "nail matrix tumour" OR "neoplasm of nail matrix" OR "neoplasm of the nail matrix" OR "tumor of nail matrix" OR "tumor of the nail matrix" OR "tumour of nail matrix" OR "tumour of the nail matrix"
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:41:18.631Z