Brooke–Spiegler syndrome

Abstract

The Brooke-Spiegler syndrome is an autosomal dominant one characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. Within a given family, some members may have cylindromas whereas others may have trichoepitheliomas or both. We describe the coexistence of trichoepithelioma papulosum multiplex (also known as epithelioma adenoides cysticum of Brooke) and cylindromas in a 30-year-old man, and discuss the relationship between these two autosomal dominant syndromes.

Multiple Nonfamilial Unilateral Trichoepitheliomas: Report of a Case—Mini Review of the Literature

“…Their prevalence remains unknown. Trichoepitheliomas increase slowly in size and number throughout life, often causing a significant cosmetic problem [1, 2].…”

“…Multiple familial trichoepitheliomas (MFT) usually begin in early childhood or adolescence as multiple round, firm, pink, or skin-colored, sometimes translucent, papules or nodules symmetrically distributed on the face particularly in the perinasal area but can also occur on the trunk and the extremities [2, 3]. MFT have an autosomal dominant mode of inheritance.…”

Nonfamilial multiple trichoepithelioma: Few and far between

“…MTs form a part of rare syndromes which include Rombo's syndrome (vermicular atrophoderma, milia, trichoepithelioma, hypotrichosis, BCCs, and peripheral vasodilation with cyanosis) and Basex syndrome (follicular atrophoderma, trichoepithelioma, hypotrichosis, BCCs, and hypohydrosis). [ 9 ]…”

Brooke-Spiegler syndrome: A rare entity

“…A defect in the differentiation of folliculo-sebaceous-apocrine unit is considered in the pathogenesis. [3] The susceptibility locus has been mapped to chromosome 16q12-q13 and mutations in the cylindromatosis tumor - suppressor gene have been implicated in the phenotype diversity. [45] Cylindromas occur as numerous papules, nodules, or tumors distributed over scalp and sometimes on face and trunk.…”