Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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August 22, 2011
Cylindroma — Brooke-Spiegler Syndrome
- Cylindroma is a benign adnexal neoplasm that most commonly affects women in the third to fifth decades of life.
- The preponderance of tumors occur in the head, neck, and scalp region.
- Multiple cylindromas may occur with eccrine spiradenomas and trichoepitheliomas in the autosomal dominant Brooke-Spiegler syndrome (familial cylindromatosis or turban tumor syndrome). Both the sporadic and familial forms of cylindroma have been shown to result from inactivation of the CYLD tumor suppressor gene in chromosome 16q12-q13. Malignant transformation can occur.
- Usually asymptomatic, patients can present with multiple soft tissue masses in the head and neck region.
- Key Diagnostic Features: Multiple well-defined soft tissue masses involving the scalp are seen. Sometimes, these lesions can also involve the face and neck.
- DDx: NF1, lipomatosis, multiple hemangiomas, metastases
- Rx: Usually palliative; Electro-coagulation, cryotherapy, CO2 laser, RT, and surgery
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