Familial cylindromatosis (Brooke-Spiegler syndrome) is a rare autosomal dominant inherited disease characterized by the development of adnexal tumors, mostly cylindromas, but also trichoepitheliomas and spiradenomas. Malignant tumors may occur, usually with the features of a cylindrocarcinoma.The authors describe the case of a 75-year-old woman with the Brooke-Spiegler syndrome who presented with multiple nodules of the scalp, face, and trunk. In 1997 she underwent surgical excision of the entire forehead and scalp with skin grafting. Histologic examination revealed multiple cylindromas, some with areas of spiradenoma and one with an extensive adenomatous component; some trichoepitheliomas were also evident. In 2002, a nodule of the trunk suddenly increased in size and became painful. The lesion was excised and histologic and immunohistochemical evaluation revealed a malignant cutaneous biphasic tumor extending into the subcutis, consisting of a major portion with the features of an adnexal carcinoma and of a minor one of atypical spindle cells. Biphasic malignant skin tumors are rare and only a limited number have been described, none in association with the Brooke-Spiegler syndrome. The authors discuss the morphogenesis of the folliculosebaceous-apocrine unit from which the tumors in this syndrome derive, and the pivotal role of mesenchymal cells in determining the process. Since the Brooke-Spiegler syndrome is characterized by a germline mutation in the CYLD oncosuppressor gene, a biphasic tumor in this setting may represent a true carcinosarcoma.

Fine needle aspiration cytology of breast cylindroma in a woman with familial cylindromatosis: a case report. Acta Cytol. 2004 Nov-Dec;48(6):853-8.

BACKGROUND: That sweat gland type tumors occur occasionally in the breast is not surprising, as the breast and cutaneous sweat glands are embryologically related. Cylindromas present most commonly as solitary and sporadic dermal nodules on the face and scalp. Cases of multiple cylindromas are dominantly inherited, and the neoplasms are referred to as "turban tumors" when multiple lesions cover the scalp. Primary cylindroma of the breast has been reported once in the past. To the best of our knowledge, the fine needle aspiration cytology of primary breast cylindroma and its occurrence in the setting of familial cylindromatosis have not previously been reported. CASE: A 59-year-old woman presented with an ill-defined left breast mass. She had a personal and family history of dermal cylindromas on the head and face. Fine needle aspiration cytology demonstrated small, uniform cells with oval nuclei and finely granular cytoplasm, with some cells arranged around conspicuous cylinders of dense, acellular material. Excisional biopsy was recommended to exclude adenoid cystic carcinoma. Tissue biopsy revealed a benign cylindroma arising in breast parenchyma. CONCLUSION: Fine needle aspiration cytology of cylindroma very closely mimics that of adenoid cystic carcinoma. Although extremely rare, primary breast cylindroma is another entity to be included in the cytologic differential diagnosis of bland, basaloid cells associated with globular, extracellular material, a finding most commonly associated with adenoid cystic carcinoma.