Brooke-Spiegler syndrome: A rare entity

Abstract

Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by the presence of various adnexal tumors including multiple cylindromas, trichoepitheliomas and spiradenomas. A 35-year-old female presented with multiple asymptomatic nodular lesions over face and scalp since the age of 5 years. There were no complaints suggestive of systemic involvement. Her son, elder sister, younger sister, father, father's sister, and grandmother had history of similar lesions. On examination, there were multiple asymptomatic skin-colored firm papulonodular lesions measuring from 2 to 8 mm in diameter, with smooth surface mainly affecting central part of face. Scalp showed pinkish, firm, smooth-surfaced, dome-shaped nodules measuring about 1 to 3 cm in size. Histopathological examination was consistent with trichoepitheliomas for the facial lesions and cylindromas for the scalp lesions. The diagnosis of BSS was thus confirmed.