Multiple Self-Healing Squamous Epithelioma

Preferred Label : Multiple Self-Healing Squamous Epithelioma;

NCIt synonyms : Ferguson-Smith Tumor; Multiple Self Healing Epithelioma of Ferguson-Smith; MSSE;

NCIt definition : A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.;

Details

Origin ID

C4461;

UMLS CUI

C0345982;

Automatic exact mappings (from CISMeF team)
- Multiple self-healing squamous epithelioma [ORDO Disease]
- Multiple self-healing squamous epithelioma, susceptibility to [OMIM Phenotype]
Currated CISMeF NLP mapping
- Ferguson-Smith tumor [DO Concept]
- Multiple self-healing epithelioma of Ferguson-Smith (disorder) [SNOMED CT concept]
DO Cross reference
- Ferguson-Smith tumor [DO Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Ferguson-Smith tumor [DO Concept]
- Multiple self-healing epithelioma of Ferguson-Smith (disorder) [SNOMED CT concept]
disease_has_associated_disease
- Keratoacanthoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Tumor Regression [NCIt concept]
disease_has_molecular_abnormality
- TGFBR1 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- TGFBR1 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- TGFBR1 Gene [NCIt concept]
- TGFBR1 wt Allele [NCIt concept]

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