Neurofibromatosi di tipo 1. Una patologia multisistemica

Neurofibromatosis type 1 (NF1) is a multisystemic disease with autosomic dominant trasmission characterized by a high clinical variability. In fact, it has been demonstrated that in the same family, relatives affected by NF1 may present more serious manifestations than other in which NF1 is not associated with any important diseases either neoplastic or not. The NF1 gene responsible of this disease, has been isolated by positional cloning. It spans over 350 kb of the genomic DNA in chromosomal region 17q11.2; the protein encoded by NF1, neurofibromin, has a domain homologous to the GTPase activating protein (GAP) family and downregulates p21 ras activity. The variability of NF1 clinical manifestations related either to the age of the patients or to the different genetic alterations NF1 associated, can be responsible of the difficulties for NF1 diagnosis. Methods. The study has been carried out on 206 patients affected by NF1 and 89 patientes with uncertain NF1 diagnosis observed at the center for neurocutaneos diseases. Results. In this study it was possible to observe either the more frequent complications or diseases rarely associations with NF1 such as melanoma and multiple sclerosis. Conclusions. In personal opinion, NF1 gene alterations can not be referred to every clinical manifestation of NF1, but probably more gene are responsible of the multisystemic character of neurofibroatosis type1.