Medical Follow-Up in Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a relatively common inherited disorder which affects one in 3000 people worldwide. It is a multisystem genetic disorder that is primarily associated with cutaneous, neurologic, and orthopedic manifestations; some of which are progressive and result in substantial morbidity or mortality. The mainstay of management of patients with NF1 is a longitudinal care with age specific monitoring of disease manifestations, aiming at the early detection and symptomatic treatment of complications as they arise. Given the complexity of this disorder, the management of children and adults with NF1 requires access to the full complement health care providers and coordination among the multiple specialties is crucial. This chapter focuses on the major clinical manifestations and complications that appear throughout the lifetime of individuals with NF1 and provides recommendations for disease surveillance and intervention to optimize the management of individuals with NF1.