Chapter 151 - Cutaneous Hamartoneoplastic Disorders

Abstract

Cutaneous hamartoneoplastic disorders encompass a wide variety of syndromes, among which are neurofibromatosis types 1 (NF1) and 2 (NF2), schwannomatosis, tuberous sclerosis complex (TSC), nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome, PTEN hamartomatous syndrome (encompassing Cowden disease and Bannayan–Riley–Ruvalcaba syndrome), hereditary leiomyomatosis and renal-cell cancer (HLRCC), and Birt–Hogg–Dube syndrome (BHD). This chapter focuses on two examples, HLRCC and BHD. HLRCC is caused by mutation in fumarate hydratase ( FH ), and associated with an increased risk of benign cutaneous and uterine leiomyomas, as well as papillary renal cancer type 2, an aggressive form of renal cancer. Mutations in FLCN lead to BHD, with fibrofolliculomas, pulmonary cysts, and pneumothorax, along with increased risks of renal cancer, most commonly of the hybrid oncocytoma/chromophobe type.