Recent developments in the diagnosis and management of neurofibromatosis.

The last decade has seen increasing awareness of the problems encountered in diagnosis and management of the different forms of neurofibromatosis.1 2 Modern techniques of clinical and laboratory investigation have been applied to the disease, culminating in 1987 with the mapping of the genes for type 1 4 and type 25 6 neurofibromatosis to chromosomes 17 and 22 respectively. In the short term this means closely linked DNA markers can be used for prenatal and presymptomatic diagnosis and in the long term the cloning of the actual genes will be a major step towards our understanding of the pathogenesis of and possible treatments for the two main types of neurofibromatosis.