ORPHA:493
Familial keratoacanthoma
Also known as: Hereditary keratoacanthoma · Multiple keratoacanthoma
Publications
81
43.8th percentile
Trials
0
Interventional, condition-specific
Researchers
329
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces.
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:0018851
- UMLS:C5848325
Additional Mondo synonyms (2)
hereditary keratoacanthoma · multiple keratoacanthoma
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
81 matched papers (30 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 trialPartial
None under the specific name; 4 for broader category keratoacanthoma
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?
81
81 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.
81 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).
30 in the last 10 years · high confidence · 43.8th percentile (publications denominator)
Phrase hits: 81 · MeSH hits: 0
Who's working on it?
329
Distinct author names in 81 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.
- 01Ahmed AR2 papers · 1982Papers in Europe PMC
- 02BINAZZI M2 papers · 1964Papers in Europe PMC
- 03Chessa MA2 papers · 2022
IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Papers in Europe PMC - 04Chopra A2 papers · 1986Papers in Europe PMC
- 05Filippi F2 papers · 2022
IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Papers in Europe PMC - 06Karampinis E2 papers · 2025
Second Dermatology Department, School of Health Sciences, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
Papers in Europe PMC - 07Mittal R2 papers · 1986Papers in Europe PMC
- 08Schwartz RA2 papers · 2016
Dermatology and Pathology, Rutgers University New Jersey Medical School, and Rutgers University School of Public Affairs and Administration, Newark, New Jersey.
Papers in Europe PMC - 09Singal A2 papers · 2025
Department of Dermatology and STD and Pathology, University College of Medical Sciences, Shahdara, Delhi, India.
Papers in Europe PMC - 10Toli O2 papers · 2025
Department of Dermatology, Oncoderm Center One Day Clinic, 45332 Ioannina, Greece.
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). 4 trials are registered for keratoacanthoma, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
4 interventional trials matched keratoacanthoma, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: keratoacanthoma
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Familial keratoacanthoma" OR "Hereditary keratoacanthoma" OR "Multiple keratoacanthoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial keratoacanthoma" OR "Hereditary keratoacanthoma" OR "Multiple keratoacanthoma"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"keratoacanthoma"
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 2026-07-26T14:01:45.029Z