A review and update of skin appendage neoplasms and associated genetic syndromes

Abstract

Adnexal tumors are often benign, rarely malignant, and in some settings they can be associated with a hereditary syndrome that predisposes to visceral malignancies. This article aims to review and update the various genetic syndromes that are characterized by cutaneous appendage neoplasms. Some are of clinical importance due to the association with internal malignancy, and they include Cowden, Gardner, Birt–Hogg–Dube, Muir–Torre, basal cell nevus and Brooke–Spiegler syndromes. Others are not associated with internal malignancy, such as multiple familial trichoepithelioma, generalized basaloid follicular hamartoma, Bazex–Dupre–Christol, Rombo, Oley and steatocystoma multiplex syndromes. Awareness that some adnexal neoplasms are clues to internal malignancies might allow for early diagnosis, genetic counseling and appropriate cancer surveillance.