ORPHA:65748
Multiple self-healing squamous epithelioma
Also known as: Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease · MSSE · Multiple keratoacanthoma, Ferguson-Smith type · Self-healing squamous epithelioma type 1
Publications
134
58.4th percentile
Trials
0
Interventional, condition-specific
Researchers
732
Distinct authors in sample
Gene link
TGFBR1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.
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:0007566
- MeSH:C536150
- OMIM:132800
- UMLS:C0546476
- NCIT:C4461
Additional Mondo synonyms (8)
Ferguson-Smith syndrome · Ferguson-Smith tumor · Ferguson-Smith tumour · familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · multiple keratoacanthoma, Ferguson-Smith type · multiple self healing epithelioma of Ferguson-Smith · multiple self-healing squamous epithelioma · self-healing squamous epithelioma type 1
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — TGFBR1
- LiteraturePresent
134 matched papers (65 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?
Yes — we know a specific gene responsible (TGFBR1).
GenCC classification: Definitive.
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?
134
134 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.
134 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).
65 in the last 10 years · medium confidence · 58.4th percentile (publications denominator)
Phrase hits: 134 · MeSH hits: 1
Who's working on it?
732
Distinct author names in 134 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.
- 01Ferguson-Smith MA9 papers · 2014
Resource Centre for Comparative Genomics, Department of Veterinary Medicine, Cambridge University, Cambridge, UK
Papers in Europe PMC - 02Goudie DR7 papers · 2014
Human Genetics Unit, University of Dundee College of Medicine, Dentistry and Nursing, Dundee, UK.
Papers in Europe PMC - 03Broesby-Olsen S4 papers · 2012
Department of Dermatology, Odense University Hospital, Odense C, Denmark. s.broesby-olsen@dadlnet.dk
Papers in Europe PMC - 04Gerdes AM4 papers · 2012Papers in Europe PMC
- 05Inman GJ4 papers · 2018
Division of Cancer Research, School of Medicine, University of Dundee UK.
Papers in Europe PMC - 06Berzofsky JA3 papers · 2015
Vaccine Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA. berzofsj@mail.nih.gov
Papers in Europe PMC - 07Brandrup F3 papers · 2012Papers in Europe PMC
- 08D'Alessandro M3 papers · 2013
Cancer Research UK Cell Structure Research Group, Dundee University School of Life Sciences, Dundee, UK. m.dalessandro@dundee.ac.uk
Papers in Europe PMC - 09Dietz HC3 papers · 2014
McKusick-Nathans Institute of Genetic Medicine, Division of Pediatric Cardiology, Department of Pediatrics Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Department of Regenerative Medicine and Cell Biology, Cardiovascular Developmental Biology Center, Children’s Research Institute, Medical University of South Carolina, Charleston, South Carolina, USA. Division of Cardiology and Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Howard Hughes Medical Institute, Bethesda, Maryland, USA.
Papers in Europe PMC - 10Fujiwara T3 papers · 2019
Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. sasasatf5804@yahoo.co.jp.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Multiple self-healing squamous epithelioma" OR "Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type" OR "Familial primary self-healing squamous epithelioma of skin, Ferguson-Smith type" OR "Ferguson-Smith disease" OR "Multiple keratoacanthoma, Ferguson-Smith type" OR "Self-healing squamous epithelioma type 1" OR "Ferguson-Smith syndrome" OR "Ferguson-Smith tumor" OR "Ferguson-Smith tumour" OR "multiple self healing epithelioma of Ferguson-Smith" OR "multiple self healing epithelioma of the Ferguson-Smith"
MeSH descriptor terms unioned into the query: Keratoacanthoma familial
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple self-healing squamous epithelioma" OR "Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type" OR "Familial primary self-healing squamous epithelioma of skin, Ferguson-Smith type" OR "Ferguson-Smith disease" OR "Multiple keratoacanthoma, Ferguson-Smith type" OR "Self-healing squamous epithelioma type 1" OR "Ferguson-Smith syndrome" OR "Ferguson-Smith tumor" OR "Ferguson-Smith tumour" OR "multiple self healing epithelioma of Ferguson-Smith" OR "multiple self healing epithelioma of the Ferguson-Smith" OR "Keratoacanthoma familial" OR "TGFBR1"
Recall-expansion terms: TGFBR1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MSSE
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 2026-07-27T01:19:31.160Z