multiple self-healing squamous epithelioma
Findings
No curated finding names multiple self-healing squamous epithelioma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007566), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Adult onset · Juvenile onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Self-healing squamous epitheliomaHPOHP:0034720
- 18 of 18 reported patients
- Arterial tortuosityHPOHP:0005116
- 0 of 18 reported patients
- Ascending tubular aorta aneurysmHPOHP:0004970
- 0 of 18 reported patients
- Bifid uvulaHPOHP:0000193
- 0 of 18 reported patients
- HypertelorismHPOHP:0000316
- 0 of 18 reported patients
- Talipes equinovarusHPOHP:0001762
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TGFBR1HGNC:11772
- Definitive · ClinGen · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: multiple self-healing squamous epithelioma
- Also called
- familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith typeFerguson-Smith diseaseFerguson-Smith syndromeFerguson-Smith tumorFerguson-Smith tumourMSSEmultiple keratoacanthoma, Ferguson-Smith typemultiple self healing epithelioma of Ferguson-Smithself-healing squamous epithelioma type 1