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

Abstract

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.

Giant vascular cylindroma in a case of brooke-spiegler syndrome

“…[ 4 ] Histological examination showed predominantly eccrine spiradenoma with vasodilatation, as well as features of cylindroma and follicular epithelioma. Malignant cylindromas tend to be larger than benign ones[ 5 ]; however, both the current case and the previously reported case[ 4 ] were benign, even though they were larger than 10 cm in size. Our patient had not experienced any trauma to the scalp, and enlargement of the nodule had been gradual.…”