Multiple self-healing squamous epithelioma, susceptibility to

Preferred Label : Multiple self-healing squamous epithelioma, susceptibility to;

Symbol : MSSE;

CISMeF acronym : MSSE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ferguson-smith-type epithelioma; Ess1;

Description : Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Epstein et al., 1957; Haydey et al., 1980).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the transforming growth factor-beta receptor, type I gene (TGFBR1, 190181.0009).;

Neoplasia : Squamous epitheliomas, multiple;

Prefixed ID : #132800;

Details

Origin ID

132800;

UMLS CUI

C4083047;

Automatic exact mappings (from CISMeF team)
- Multiple Self-Healing Squamous Epithelioma [NCIt concept]
- Multiple self-healing epithelioma of Ferguson-Smith (disorder) [SNOMED CT concept]
- Multiple self-healing squamous epithelioma [ORDO Disease]
- TGFBR1 wt Allele [NCIt concept]
- symbol withdrawn MSSE [HGNC gene]
False automatic mappings
- Keratoacanthoma familial [MeSH concept]
- keratoacanthoma familial [MeSH Supplementary Concept]
Genes related to phenotype
- Transforming growth factor-beta receptor, type I [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Histological abnormality of the skin [HPO term]
- Neoplasm [HPO term]
- Onset [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Multiple self-healing squamous epithelioma [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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