[Advances in diagnosis and treatment of neurofibromatosis type 1]

Neurofibromatosis type 1 (NF1) is one of the most common neurogenetic diseases affecting adults and children. It is an autosomal dominant disorder, characterized by multiple system damages derived from the abnormal differentiation of the neural crest cells, but its pathogenesis is still unclear. Recent progress in molecular biology, neuroimaging and the development of mouse models have helped to elucidate the aetiology and clinical manifestations of NF1. Furthermore, these advances have raised the prospect of alternative treatment approaches for this complex and distressing disease. The diagnostic criteria, major differential diagnoses, clinical manifestations and the present strategies for monitoring and management of NF1 complications are reviewed and discussed in this paper.