Brooke-Spiegler Syndrome

Abstract

Introduction: 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. Case Description: 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. Discussion: 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.

Keywords

• Brook-Spiegler Syndrome
• Adenoid Cystic Carsinoma
• Trichoepithelioma