ORPHA:411777
Generalized eruptive keratoacanthoma
Also known as: GEKA · Generalized eruptive keratoacanthomas of Grzybowski · Grzybowski syndrome
Publications
64
47.5th percentile
Trials
0
Interventional, condition-specific
Researchers
297
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.
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:0018471
- UMLS:C0345985
Additional Mondo synonyms (2)
generalised eruptive keratoacanthomas of Grzybowski · generalized eruptive keratoacanthomas of Grzybowski
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
64 matched papers (36 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?
64
64 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.
64 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).
36 in the last 10 years · medium confidence · 47.5th percentile (publications denominator)
Phrase hits: 64 · MeSH hits: 0
Who's working on it?
297
Distinct author names in 64 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.
- 01Nofal A4 papers · 2024
Department of Dermatology, Faculty of Medicine, Zagazig University, 44519, Zagazig City, Sharkia Province, Egypt. ahmadnofal5@hotmail.com.
Papers in Europe PMC - 02Nofal E3 papers · 2015Papers in Europe PMC
- 03Ambur A2 papers · 2022
All authors are with the Department of Dermatology at KCU-GME Advanced Dermatology and Cosmetic Surgery in Oviedo, Florida.
Papers in Europe PMC - 04Assaf M2 papers · 2015Papers in Europe PMC
- 05Chu DH2 papers · 2003
Ronald O. Perelman Department of Dermatology, New York University, USA.
Papers in Europe PMC - 06Clark A2 papers · 2022
All authors are with the Department of Dermatology at KCU-GME Advanced Dermatology and Cosmetic Surgery in Oviedo, Florida.
Papers in Europe PMC - 07Greer KE2 papers · 1997Papers in Europe PMC
- 08Hale EK2 papers · 2003Papers in Europe PMC
- 09Li C2 papers · 2024
Department of Medical Cosmetology, Shanghai Dermatology Hospital, Shanghai, China.
Papers in Europe PMC - 10Liu XG2 papers · 2022
Department of Oral and Maxillofacial Surgery, Shandong University, Jinan 250100, Shandong Province, China.
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.
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.
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.
"Generalized eruptive keratoacanthoma" OR "Generalized eruptive keratoacanthomas of Grzybowski" OR "Generalized eruptive keratoacanthomas of the Grzybowski" OR "Grzybowski syndrome" OR "generalised eruptive keratoacanthomas of Grzybowski" OR "generalised eruptive keratoacanthomas of the Grzybowski"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Generalized eruptive keratoacanthoma" OR "Generalized eruptive keratoacanthomas of Grzybowski" OR "Generalized eruptive keratoacanthomas of the Grzybowski" OR "Grzybowski syndrome" OR "generalised eruptive keratoacanthomas of Grzybowski" OR "generalised eruptive keratoacanthomas of the Grzybowski"
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
Synonyms dropped by stoplist: GEKA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T15:42:13.252Z