Benign and Malignant Neoplasms in a Series of 85 Patients with Brooke-Spiegler Syndrome, Including the Phenotype of Multiple Familial Trichoepitheliomas
DV Kazakov, JA Carlson, T Vanecek, D Kacerovska, DV Spagnolo, M Michal. Charles University Medical Faculty Hospital, Pilsen, Czech Republic; Albany Medical College, Albany, NY; Bioptical Laboratory, Pilsen, Czech Republic; PathWest Laboratory Medicine WA, Nedlands, WA, Australia
Background: Brooke-Spiegler syndrome (BSS) is an inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms including spiradenoma, cylindroma, spiradenocylindroma and trichoepithelioma. Multiple familial trichoepitheliomas (MFT) are regarded as a variant of BSS due to the overlap in the clinical phenotype of the two conditions and common underlying genetic abnormalities (mutations in the CYLD gene). Cylindroma is usually cited as the most common benign tumor in BSS. Malignant neoplasms are rare.
Design: To investigate the morphological spectrum of benign and malignant neoplasms we studied a series of 85 patients affected with BSS (female 57, male 28) ranging in age from 11 to 81 years (median 50 years), including 70 patients with the classical BSS phenotype and 15 patients with MFT.
Results: A total of 446 benign tumors available for review included 133 trichoepitheliomas, 118 spiradenomas, 110 spiradenocylindromas, 81 cylindromas, 3 small nodular trichoblastomas, and 1 lymphadenoma. One patient had a cylindroma involving the breast parenchyma. Malignant neoplasms were identified in 9 patients, of whom 8 presented with classical BSS and 1 individual with MFT. The malignant neoplasms included 6 carcinomas bearing a resemblance to basal call adenocarcinoma of salivary glands, either low grade or high grade, all of which were associated with a preexisting spiradenoma or cylindroma. In the remaining 3 patients, the malignant lesions were basal cell carcinoma, including large nodular, small nodular, and infundibulocystic variants.
Conclusions: Spiradenoma is the most common benign neoplasm in patients with the classical phenotype of BSS, whereas cylindroma is the rarest one. Malignant lesions appear to be more common in BSS patients with the classical phenotype compared to MFT.
Wednesday, March 24, 2010 1:00 PM
Poster Session VI # 87, Wednesday Afternoon