Trichoepithelioma, multiple familial, 1

Preferred Label : Trichoepithelioma, multiple familial, 1;

Symbol : MFT1;

CISMeF acronym : EAC; MFT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brooke-fordyce trichoepitheliomas; Epithelioma adenoides cysticum of brooke; Epithelioma, hereditary multiple benign cystic; EAC;

Description : Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CYLD gene (605018.0005);

Neoplasia : Trichoepitheliomas may rarely show malignant transformation to basal cell carcinoma;

Prefixed ID : #601606;

Details

Origin ID

601606;

UMLS CUI

C1275122;

Automatic exact mappings (from CISMeF team)
- Entire external auditory canal (body structure) [SNOMED CT concept]
- External auditory canal structure (body structure) [SNOMED CT concept]
- Multiple familial trichoepithelioma [ICD-11 More detail]
- familial cylindromatosis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Familial multiple trichoepithelioma [ORDO Disease]
- Familial multiple trichoepitheliomata (disorder) [SNOMED CT concept]
- Trichoepithelioma multiple familial [MeSH concept]
False automatic mappings
- CYLD wt Allele [NCIt concept]
- aminocaproates [MeSH Descriptor]
Genes related to phenotype
- Cyld lysine-63 deubiquitinase [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal cell carcinoma [HPO term]
ORDO concept(s)
- Brooke-Spiegler syndrome [ORDO Disease]
- Familial multiple trichoepithelioma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Familial multiple trichoepithelioma [ORDO Disease]
- Familial multiple trichoepitheliomata (disorder) [SNOMED CT concept]
- Trichoepithelioma multiple familial [MeSH concept]

Keyword's position in hierarchy(ies) :

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