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ORPHA:499182

Pilomatrix carcinoma

high confidenceDisorder

Also known as: Calcified epithelial carcinoma of Malherbe · Calcifying epitheliocarcinoma · Malignant pilomatricoma · Trichomatrical carcinoma

Publications

758

81.3th 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.

Orphanet entry

Cross-references

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

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    758 matched papers (417 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

758 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).

417 in the last 10 years · high confidence · 81.3th percentile (publications denominator)

Phrase hits: 758 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Raffone 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
  2. 02
    Travaglino A4 papers · 2025

    Pathology Unit, Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.

    Papers in Europe PMC
  3. 03
    Arciuolo 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
  4. 04
    Battistella 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
  5. 05
    Cribier B3 papers · 2026

    CARADERM Network; Dermatology Clinic, Hôpitaux Universitaires & Université de Strasbourg, Hôpital Civil, Strasbourg, France.

    Papers in Europe PMC
  6. 06
    Inzani 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
  7. 07
    Kervarrec 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
  8. 08
    Minucci A3 papers · 2025

    Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Santoro 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
  10. 10
    Xu 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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 2026-07-30

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 Pilomatrix carcinoma — 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.

"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"

Run this search on Europe PMC

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