What's new in neurofibromatosis?

Abstract

The last decade has seen major developments in our knowledge of the different forms of neurofibromatosis. Evidence based clinical diagnostic criteria and management guidelines have been developed. The genes for the two major forms, neurofibromatosis type 1 (Nfl) and type 2 (Nf2), have been cloned. This has provided insight into the pathogenesis of these diseases and long-term hope of some form of treatment being developed. In this article we briefly review these developments and try to answer the questions that paediatricians most often ask 'neurofibromatologists'. The term neurofibromatosis or Von Recklinghausen's disease was previously used to describe all patients with variable combinations of caf6 au lait (CAL) spots and tumours of the peripheral and/or central nervous system. As systematic clinical research began in the 1970s it became clear that within this umbrella term there were several distinct diseases. Differentiation of these is not just an academic exercise (and one which clinical geneticists are fond of!), their natural history and management are quite distinct. The other major development in recent years has been the network of support available to families through the UK Neurofibromatosis Association.