Brooke-spiegler syndrome

Preferred Label : Brooke-spiegler syndrome;

Symbol : BRSS;

CISMeF acronym : BRSS; BSS; SBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spiegler-brooke syndrome; BSS; SBS;

Description : Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003). 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 (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CYLD gene (605018.0003);

Neoplasia : Skin appendage tumors may show malignant transformation; Parotid gland adenoma and adenocarcinoma;

Prefixed ID : #605041;

Details

Origin ID

605041;

UMLS CUI

C1857941;

Automatic exact mappings (from CISMeF team)
- Antimony [NCIt concept]
- BLM wt Allele [NCIt concept]
- BSS plus [MeSH concept]
- Bachelor of Science [NCIt concept]
- Board Recognized Specialist - Swallowing [NCIt concept]
- CYLD wt Allele [NCIt concept]
- GP1BA wt Allele [NCIt concept]
- Multiple familial trichoepithelioma [ICD-11 More detail]
- Schilbach-Rott syndrome [ORDO Disease]
- cutis gyrata syndrome of beare and stevenson [MeSH Supplementary Concept]
- glutathione-bicarbonate-Ringer solution [MeSH Supplementary Concept]
- shaken baby syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Brooke Spiegler syndrome [Disease (Nov.)]
- Brooke-Spiegler Syndrome [NCIt concept]
- Brooke-Spiegler syndrome [PASCAL descriptor]
- Brooke-Spiegler syndrome [DO Concept]
- Brooke-Spiegler syndrome [MeSH concept]
- Brooke-Spiegler syndrome [ORDO Disease]
- Brooke-Spiegler syndrome (disorder) [SNOMED CT concept]
- Eccrine dermal cylindroma of skin (disorder) [SNOMED CT concept]
- Familial cylindromatosis [ORDO Disease]
- Familial cylindromatosis [MeSH concept]
- eccrine dermal cylindroma [SNOMED Notion]
- familial cylindromatosis [MeSH Supplementary Concept]
- familial cylindromatosis [Disease (Nov.)]
DO Cross reference
- Brooke-Spiegler syndrome [DO Concept]
False automatic mappings
- Bahamas [NCIt concept]
- Bloom syndrome [ORDO Disease]
- Saint Pierre and Miquelon [NCIt concept]
- Solomon Islands [NCIt concept]
Genes related to phenotype
- Cyld lysine-63 deubiquitinase [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Milia [HPO term]
- Neoplasm [HPO term]
ORDO concept(s)
- Brooke-Spiegler syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brooke-Spiegler syndrome [ORDO Disease]
- Brooke-Spiegler syndrome [MeSH concept]
- Brooke-Spiegler syndrome [PASCAL descriptor]
- Brooke-Spiegler syndrome [DO Concept]
- Brooke-Spiegler syndrome [MedDRA Preferred Term]
- Brooke-Spiegler syndrome (disorder) [SNOMED CT concept]

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