ORPHA:867
Familial multiple trichoepithelioma
How rare: How common this is has not been clearly measured.
Is anyone studying this?
5
5 papers have ever been indexed 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=183) is 38.
5 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · high confidence · 9.6th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
24
Distinct author names in 5 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.
- 01Albán JJ1 paper · 2024
Center of Clinical Research, Fundación Valle del Lili, Cali 760026, Colombia.
Papers in Europe PMC - 02Bajaj S1 paper · 2016
Dermatology Service, Memorial Sloan Kettering Cancer Center, Hauppauge, NY, USA.
Papers in Europe PMC - 03Casas JG1 paper · 1977Papers in Europe PMC
- 04Collin JR1 paper · 1989Papers in Europe PMC
- 05Doza L1 paper · 2024
Department of Human Genetics, Fundación Valle del Lili, Cali 760026, Colombia.
Papers in Europe PMC - 06Duhm G1 paper · 1977Papers in Europe PMC
- 07Fujioka S1 paper · 2001Papers in Europe PMC
- 08Garner A1 paper · 1989Papers in Europe PMC
- 09González S1 paper · 2016
Melanoma and Skin Cancer Unit, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Department of Pathology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 10
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Familial multiple trichoepithelioma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial multiple trichoepithelioma"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C1275122 NCIT:C205364
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