Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?

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Abstrakt

Brooke-Spiegler syndrome (BSS) is a rare inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms. BSS has been linked to mutations in CYLD gene, which is a tumor suppressor gene located on chromosome 16q12-q13. An increased risk of malignant transformation of adnexal cutaneous tumors in BSS patients has been reported. However, no reported genetic markers identify patients at risk of cutaneous malignancy. This study reviews published cases of BSS to investigate the role of clinical parameters as biomarkers of skin malignancy. A comprehensive review of the clinical aspects of BSS is based on 55 case reports. Our analysis revealed only age as a predictor of malignancy; however, this is also a general risk factor for development of malignancy and therefore of limited value as a screening tool. The study highlights the need for standardized clinical follow-up of patients.

OriginalsprogEngelsk
Sider (fra-til)133-140
Antal sider8
TidsskriftActa Dermatovenerologica Alpina, Panonica et Adriatica
Vol/bind29
Udgave nummer3
StatusUdgivet - sep. 2020

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