Brooke-Spiegler Syndrome
Mirshams Shahshahani، Mostafa نويسنده Department of Dermatology,Tehran university of medical sciences Mirshams Shahshahani, Mostafa , Rayati Damavandi، Maedeh نويسنده Department of Dermatology,Tehran university of medical sciences Rayati Damavandi, Maedeh , Kamyab Hesari، Kambiz نويسنده Dept. of Dermatopathology, Razi Skin Hospital, Tehran University of Medical Sciences, Tehran , , Maghsoudnia، Gholam-Reza نويسنده Department of Plastic Surgery, Tehran university of medical sciences Maghsoudnia, Gholam-Reza , Aryianian، Zeinab نويسنده Department of Dermatology,Tehran university of medical sciences Aryianian, Zeinab
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.