Brooke-Spiegler syndrome

Brooke-Spiegler Syndrome [BSS] is a rare autosomal dominant disease characterized by the development of multiple adnexal cutaneous tumors such as cylindromas, trichoepitheliomas and spiradenomas. A 49 years old female patient presented with a history of gradual appearance of multiple nodules situated predominantly on the scalp and face. Pathologic examination of lesions revealed cylindroma with foci of spiradenoma. Brooke-Spiegler Syndrome [BSS] caused by various mutations of the cylindromatosis gene [CYLD], a tumor suppressor gene resulting in multiple cylindromas and trichoepitheliomas. Malignant transformation may develop within solitary cylindromas, but more common in multiple variant and requires careful followup surveillance