Brooke-Spiegler Syndrome and Phenotypic Variants: An Update

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F16%3A10324172" target="_blank" >RIV/00216208:11140/16:10324172 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1007/s12105-016-0705-x" target="_blank" >http://dx.doi.org/10.1007/s12105-016-0705-x</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s12105-016-0705-x" target="_blank" >10.1007/s12105-016-0705-x</a>

Result language
angličtina
Original language name
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update
Original language description
Brooke-Spiegler syndrome (BSS) is an inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms most commonly spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma. Multiple familial trichoepithelioma (MFT) is a phenotypic variant of the disease characterized by the development of numerous trichoepitheliomas (cribriform trichoblastoma) only. Malignant tumors arise in association with preexisting benign cutaneous neoplasms in about 5-10 %of the patients. Apart from the skin, major and minor salivary glands have been rarely involved in BSS patients. Extremely rare is the occurrence of breast tumors (cylindroma). The gene implicated in the pathogenesis of the disease is theCYLD gene, a tumor suppressor gene located on chromosome 16q12-q13. Germline CYLD mutations are detected in about 80-85 %of patients with the classical BSS phenotype and in about 40-50 % of the individuals with the MFT phenotype using a PCR based approach with analysis of exonic sequences and exon-intron junctions of the CYLD gene. There appears to be no genotype-phenotype correlations with respect to the severity of the disease, the possibility of malignant transformation, and development of extracutaneous lesions.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FP - Other medical fields
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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