[Neurofibromatosis: advances in diagnosis and treatment].

Abstract

Neurofibromatosis type 1 (NF1) is a genetically determined, autosomal dominant disease with complete penetrance and variable clinical expression. It is characterized by the presence of café-au-lait macules, ephelides, Lisch nodules, neurofibromas, plexiform neurofibromas and predisposition to tumours. From a neurological point of view, it can manifest with migraines, seizures, vasculopathy, learning disorders, etc. The current diagnostic criteria include genetic and new ophthalmological findings. Although, the extensive clinical and genetic heterogeneity of the disorder makes genotype-phenotype correlation difficult. Recent studies have revealed a limited number of genotype-phenotype correlations which have improved the understanding of this disease and have favored the development of precision treatments (MEK pathway inhibitors), improving quality of life of affected children. A multidisciplinary approach is crucial to provide appropriate care for these children. Early detection of neurological and oncological complications is important, to provide timely interventions to manage symptoms in a timely manner.