Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes

This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseases.