Neurofibromatosis 1

Individuals with neurofibromatosis type 1 (NF1) have characteristic cutaneous manifestations, iris hamartomas, and tumors that primarily involve the peripheral nervous system and occasionally the central nervous system (CNS). Individuals with NF1 also have involvement of many organ systems and may exhibit bony abnormalities, learning disabilities, and vascular problems. In contrast, persons with neurofibromatosis type 2 (NF2) develop cataracts, hearing loss, and tumors predominantly of the CNS, most notably the vestibular schwannoma. Clinical studies have suggested that other forms of neurofibromatosis might exist, including spinal neurofibromatosis, schwannomatosis, and segmental NF. The diagnosis of NF1 can be difficult to confirm in an infant or a young child because café-au-lait spots may be the only clinical feature present for several years. In summary, NF1 is a complex, protean disorder characterized by the development of pigmentary abnormalities, benign and malignant tumors, cognitive dysfunction, and other clinical features. It is highly recommended that individuals with NF1 receive care in the setting of a multidisciplinary NF clinical program, which can provide up-to-date information and clinical treatments. The availability of a team of specialists focused on NF1 provides the optimal context for the medical management of this complicated hereditary disease.