Trichoepitheliomas are benign neoplasms derived from the hair follicles. They usually present as asymptomatic smooth, skin-colored papules or nodules on the central face and scalp.

Various genetic syndromes can be associated with trichoepitheliomas. Mutations in CYLD on chromosome 9 are inherited in an autosomal-dominant pattern and can result in 3 distinct clinical phenotypes: Brooke-Spiegler syndrome, multiple familial trichoepitheliomas, and familial cylindromatosis. Both Brooke-Spiegler syndrome and multiple familial trichoepitheliomas are associated with development of multiple trichoepitheliomas in childhood or early adolescence. Because of decreased penetrance of this gene in men, such trichoepitheliomas are more commonly seen in female patients.

Desmoplastic trichoepithelioma (DTE) is a variant of trichoepithelioma that presents on the face as a slow-growing, skin-colored papule or plaque with a raised border and depressed center. DTEs are most commonly seen on the cheeks of young women. Solitary, multiple, familial, and nonfamilial presentations have been described. Inheritance patterns, however, are not well elucidated.

Related topic: Cylindroma