Novel CYLD1 truncating mutation in Brooke-Spiegler syndrome: A case report

Alessandra Iorio1 ; Vitaliano Silipo1 ; Michele Valiante2 ; Piera Rizzolo3,4*; Chiara Panetta3 ; Lorenza Pastorino5 ; Paola De Simone1 ; Pasquale Frascione1

Brooke–Spiegler syndrome (BSS) is a rare, inherited, dominant disorder characterized by development of multiple adnexal cutaneous neoplasms (cilindromas, trichoepithelioma and spiradenoma), typically occurred in the head and neck region, particularly on the scalp, and increasing in size and number PDF