Neurofibromatosis: a common neurocutaneous disorder.
Neurofibromatosis (NF) type 1 (NF-1) is one of the most common of the neurocutaneous conditions, whereas NF type 2 (NF-2) accounts for an extremely small percentage of the total cases of NF. Indeed, most physicians will probably encounter at least one or two patients with NF-1 during the course of their practice. The manifestations can be varied and subtle; thus, the condition can sometimes be difficult to recognize. Nonetheless, the diagnosis of NF-1 is often clinically possible by the time the person is 10 years old. In this article, the diagnostic criteria for the most common types of NF are discussed, the common and some of the serious manifestations of both NF-1 and NF-2 are described, and suggestions for follow-up care are offered. Of importance, physicians must recognize that, although NF-1 and NF-2 share a common name, they are due to mutations in two different genes. Cure is not yet possible; thus, treatment is primarily symptomatic. A multi-disciplinary treatment team is often helpful, particularly for patients with complicated problems.
Karnes
P S
PS
Department of Medical Genetics, Mayo Clinic Rochester, Minnesota 55905, USA.
D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009369:Neoplasms / Q000235:genetics; D017253:Neurofibromatoses / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009456:Neurofibromatosis 1; D016518:Neurofibromatosis 2