Neurofibromatosis type 1: Early detection program in roman scholastic institutes

Neurofibromatosis type 1 (NF1) is a multisystemic disorder and an important social pathology characterized by marked variation in clinical manifestations. In our opinion the incidence of NF1 is underestimated compared with statistical data actually estimated, so we have started an early detection program studying two groups of children six and ten year old. At the moment we have analysed 2513 children and 6 cases of NF1 have been diagnosed. According to the 95% confidence interval, the prevalence of NF1 is between 1:113 and 1:812, significantly higher than the birth incidence of 1:3000 and 1:2500 signalled in American/European and Australian statistics respectively. Moreover 197 children present only few signs (café au lait and ipochromic spots) and have been undergone to follow up. The aim of our study is to investigate, with the aid of a-cohort of medical specialists, the real incidence of NF1. © Copyright 2004, CIC Edizioni Internazionali, Roma