Medical management of neurofibromatosis

The neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. For many years these conditions were inextricably linked as part of generalized neurofibromatosis (von Recklinghausen disease). Since 1987 with the separate localization of NF1 to chromosome 17q and NF2 (bilateral vestibular schwannoma) to 22q it has been possible to formally separate them. More recently the SMARCB1 gene on 22q has been confirmed as causing a subset of schwannomatosis. The last 20 years has seen a considerable improvement in our knowledge of the clinical and molecular features of these conditions. Both NF1 and NF2 provide the clinician with often complex management decisions. Childhood presentation of NF2 in particular presages a usually severe disease course.