Precision Molecular Pathology of Dermatologic Diseases by Victor G. Prieto

Author:Victor G. Prieto
Language: eng
Format: epub
Publisher: Springer New York, New York, NY

Genetic Testing

CYLD mutation detection rate in BSS is relatively high, with 84 % of affected patients having mutations in the gene. Genetic testing for CYLD mutations, exons 16–20 in particular, is useful for identifying affected individuals as over 75 % of BSS families have a mutation in these regions [86]. In families with history of a severe phenotype and a confirmed CYLD mutation in a parent or sibling, prenatal testing for pregnancies should be performed [86]. Early identification of mutations and management of skin appendageal tumors can potentially minimize psychological burden due to disfigurement and promote early detection of malignant lesions. Further studies to identify positive and negative regulators of CYLD are necessary for a complete understanding of the mechanisms by which CYLD regulates tumorigenesis, as well as for the development of novel therapies for adnexal tumors .

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