Cylindromatosis, familial

Preferred Label : Cylindromatosis, familial;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ancell-spiegler cylindromas; Cylindromas, dermal eccrine; 'turban tumor' syndrome;

Description : The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, 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 (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands. 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 (605018.0001);

Neoplasia : Cylindromas may show malignant transformation;

Prefixed ID : #132700;

Details

Origin ID

132700;

UMLS CUI

C1851526;

Automatic exact mappings (from CISMeF team)
- Eccrine dermal cylindroma [ICD-11 Extension code]
- Eccrine dermal cylindroma [ICD-9 code]
- Eccrine dermal cylindroma [ICD-O code]
Currated CISMeF NLP mapping
- Brooke Spiegler syndrome [Disease (Nov.)]
- Brooke-Spiegler syndrome [ORDO Disease]
- Brooke-Spiegler syndrome [DO Concept]
- Brooke-Spiegler syndrome [PASCAL descriptor]
- Brooke-Spiegler syndrome [MeSH concept]
- Brooke-Spiegler syndrome (disorder) [SNOMED CT concept]
- Eccrine dermal cylindroma (morphologic abnormality) [SNOMED CT concept]
- Eccrine dermal cylindroma of skin (disorder) [SNOMED CT concept]
- Familial cylindromatosis [MeSH concept]
- Familial cylindromatosis [ORDO Disease]
- Turban Tumor [NCIt concept]
- eccrine dermal cylindroma [SNOMED Notion]
- familial cylindromatosis [Disease (Nov.)]
- familial cylindromatosis [MeSH Supplementary Concept]
Genes related to phenotype
- Cyld lysine-63 deubiquitinase [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Neoplasm of the skin [HPO term]
Narrower ORDO disease(s)
- Brooke-Spiegler syndrome [ORDO Disease]
ORDO concept(s)
- Brooke-Spiegler syndrome [ORDO Disease]
- Familial cylindromatosis [ORDO Disease]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Cylindroma [NCIt concept]
- Cylindroma [HPO term]
- Dermal cylindroma [MedDRA LLT]
- Eccrine dermal cylindroma of skin (disorder) [SNOMED CT concept]
- Familial cylindromatosis [ORDO Disease]
- Familial cylindromatosis [MeSH concept]
- Turban Tumor [NCIt concept]
- Turban tumor (morphologic abnormality) [SNOMED CT concept]
- eccrine dermal cylindroma [SNOMED Notion]
- familial cylindromatosis [MeSH Supplementary Concept]

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