Neurofibromatosis

Abstract

The neurofibromatoses are genetic disorders that primarily affect cell growth of neural tissues. These disorders can cause tumors to grow on the nerves at any location and at any time. Some manifestations are progressive, and may result in significant morbidity or mortality. Two distinctive forms are recognized, but variant forms may exist. A variety of names have been used to describe all forms; subsequent information has made these names technically inaccurate or incomplete. To avoid these historical legacies and to conform to current nosology in other diseases, the Consensus Panel adopted a numbered classification. The most common type, neurofibromatosis 1 or NF-1 (previously known as von Recklinghausen's neurofibromatosis or peripheral neurofibromatosis), is an autosomal dominant disorder affecting about 1 in 4000 individuals. Multiple hyperpigmented areas (cafe au lait macules) and neurofibromas are characteristic. Neurofibromatosis 2 or NF-2 (previously known as bilateral acoustic neurofibromatosis or central neurofibromatosis) is an autosomal dominant