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Brooke-Spiegler syndrome refers to a syndromic presentation of benign adnexal tumors such as cylindromas, eccrine spiradenomas, and trichepitheliomas . Patients can also present with major and minor salivary gland tumors and rarely with mammary cylindromas [2, 3]. The cause is a genetic mutation in the CYLD gene, a tumor suppressor gene, and is inherited in an autosomal dominant fashion with variable penetrance [1–3]. Patients commonly present with tumors during adolescence but continue to develop lesions into adulthood [2, 3].
- 1.Dubois A, Wilson V, Bourn D, Rajan N. CYLD genetic testing for Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepitheliomas. PLoS Curr. 2015;7. pii: ecurrents.eogt.45c4e63dd43d62e12228cc5264d6a0db. https://doi.org/10.1371/currents.eogt.45c4e63dd43d62e12228cc5264d6a0db.