Details of Disease

General Information of Disease (ID: DISPYT7K)

Disease Name Multiple self-healing squamous epithelioma
Synonyms
multiple self healing squamous epithelioma; ESS1, formerly; Ferguson-Smith type epithelioma; multiple self-healing squamous epithelioma, susceptibility to; ESS1; Ferguson-Smith-type epithelioma; ESS1 (formerly); Ferguson-Smith tumor; self-healing squamous epithelioma type 1; multiple self-healing epithelioma of Ferguson-Smith; multiple self-healing squamous epithelioma; multiple keratoacanthoma, Ferguson-Smith type; familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type; Ferguson-Smith tumour; Ferguson-Smith disease; multiple self healing epithelioma of Ferguson-Smith; MSSE
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.
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DISPYT7K: Multiple self-healing squamous epithelioma
Disease Identifiers
MONDO ID
MONDO_0007566
MESH ID
C536150
UMLS CUI
C0546476
MedGen ID
154270
Orphanet ID
65748
SNOMED CT ID
716774008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TGFBR1 TTP4520 Strong Genetic Variation [1]
TGFBR1 TTP4520 Definitive Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDC14B OTAESVOZ Strong Genetic Variation [3]
SPTLC1 OTN0Z98K Strong Biomarker [4]
TGFBR1 OT40S1SJ Definitive Autosomal dominant [2]
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References

1 Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.Eur J Hum Genet. 2018 Aug;26(8):1151-1158. doi: 10.1038/s41431-018-0127-1. Epub 2018 Apr 30.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity.Oncogene. 2006 Feb 2;25(5):806-12. doi: 10.1038/sj.onc.1209092.
4 A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma.Genomics. 1998 Jul 15;51(2):277-81. doi: 10.1006/geno.1998.5373.