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Abstract
Introduction Brooke-Spiegler syndrome (BSS), or turban tumor syndrome, is a rare condition characterized by multiple cutaneous adnexal neoplasms, usually spiradenoma, cylindroma, spiradenoma cylindroma, and trichoepithelioma. Objective This comprehensive scoping review overviews the rare syndrome BSS's epidemiology, etiology, clinical features, pathogenesis, and treatment. Methods Two independent reviewers screened PubMed, Embase, and Scopus databases to identify all documented articles and studies about BSS with the search terms “Brooke-Spiegler syndrome,” “turban tumor syndrome,” “epidemiology,” “etiology,” “clinical features,” “pathogenesis,” and “treatment.” Results 457 articles were included for analysis after screening and review of full texts. Brooke-Spiegler Syndrome is inherited in an autosomal dominant pattern due to a mutation in the CYLD tumor suppressor gene located on chromosome 16q12.1, which plays a vital role in tumor suppression through the NF-κB signaling pathway. This mutation predisposes individuals, particularly females in their 2nd to 3rd decades of life, to develop 10-30 or several hundred cutaneous adnexal neoplasms on the head and neck. The clinical manifestations of BSS vary, but spiradenomas, cylindromas, and trichoepitheliomas are expected, with a small percentage of cases showing potential for malignant transformation. BSS has two phenotypic variants, Multiple Familial Trichoepitheliomas, and Familial Cylindromatosis, and the term CYLD Cutaneous Syndrome encompasses all three syndromes. Neoplasms of the breast and salivary gland have also been reported. Treatment for associated neoplasms typically involves surgical excision, although other modalities such as laser, photodynamic therapy, dermabrasion, and cryosurgery are also being used. Conclusion These findings have significant implications for diagnosing, treating, and a more comprehensive understanding of BSS.