ORPHA:499182
Pilomatrix carcinoma
Also known as: Calcified epithelial carcinoma of Malherbe · Calcifying epitheliocarcinoma · Malignant pilomatricoma · Trichomatrical carcinoma
Publications
758
88.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,114
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0003414
- UMLS:C0585475
- NCIT:C4114
Additional Mondo synonyms (10)
Pilomatrical carcinoma · calcified epithelial carcinoma of Malherbe · calcifying epitheliocarcinoma · invasive pilomatrixoma · malignant pilomatricoma · matrical carcinoma · pilomatrix carcinoma · pilomatrix carcinoma of skin · pilomatrix carcinoma of the skin · pilomatrix skin carcinoma
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
758 matched papers (417 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?
758
758 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.
758 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).
417 in the last 10 years · high confidence · 88.5th percentile (publications denominator)
Phrase hits: 758 · MeSH hits: 0
Who's working on it?
1,114
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.
- 01Raffone A4 papers · 2025
Gynecology and Obstetrics Unit, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", Naples, Italy. antonio.raffone@unina.it.
Papers in Europe PMC - 02Travaglino A4 papers · 2025
Pathology Unit, Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
Papers in Europe PMC - 03Arciuolo D3 papers · 2025
Unità Operativa Complessa Anatomia Patologica Generale, Dipartimento di Scienze Della Salute Della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Roma, Italy.
Papers in Europe PMC - 04Battistella M3 papers · 2026
Laboratoire de pathologie, Sorbonne Paris Cité, Université Paris Diderot, UMR-S 1165, Paris, France; INSERM, U1165-Paris, Paris, France; Laboratoire de pathologie, AP-HP-Hôpital Saint-Louis, Paris, France.
Papers in Europe PMC - 05Cribier B3 papers · 2026
CARADERM Network; Dermatology Clinic, Hôpitaux Universitaires & Université de Strasbourg, Hôpital Civil, Strasbourg, France.
Papers in Europe PMC - 06Inzani F3 papers · 2025
Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, 27100 Pavia, Italy.
Papers in Europe PMC - 07Kervarrec T3 papers · 2026
Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; "Biologie des infections à polyomavirus" Team, UMR INRA ISP 1282, Université de Tours, Tours, France; CARADERM Network. Electronic address: thibaultkervarrec@yahoo.fr.
Papers in Europe PMC - 08Minucci A3 papers · 2025
Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Papers in Europe PMC - 09Santoro A3 papers · 2025
Unità Operativa Complessa Anatomia Patologica Generale, Dipartimento di Scienze Della Salute Della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Roma, Italy.
Papers in Europe PMC - 10Xu J3 papers · 2025
Department of Pathology and Laboratory Medicine, University of Wisconsin Hospital and Clinics, Madison, Wisconsin
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.
"Pilomatrix carcinoma" OR "Calcified epithelial carcinoma of Malherbe" OR "Calcified epithelial carcinoma of the Malherbe" OR "Calcifying epitheliocarcinoma" OR "Malignant pilomatricoma" OR "Trichomatrical carcinoma" OR "Pilomatrical carcinoma" OR "invasive pilomatrixoma" OR "matrical carcinoma" OR "pilomatrix carcinoma of skin" OR "pilomatrix carcinoma of the skin" OR "pilomatrix skin carcinoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pilomatrix carcinoma" OR "Calcified epithelial carcinoma of Malherbe" OR "Calcified epithelial carcinoma of the Malherbe" OR "Calcifying epitheliocarcinoma" OR "Malignant pilomatricoma" OR "Trichomatrical carcinoma" OR "Pilomatrical carcinoma" OR "invasive pilomatrixoma" OR "matrical carcinoma" OR "pilomatrix carcinoma of skin" OR "pilomatrix carcinoma of the skin" OR "pilomatrix skin carcinoma"
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 2026-07-27T17:40:35.362Z