Proposal of New Diagnostic Criteria

Abstract

Due to the fact that NF1 is one of the more frequent genetic diseases (1/2500–1/3000, see Chap. 1), in the last 20 years dedicated centers for diagnosis and follow-up of these patients have been established allowing clinicians to acquire noteworthy clinical experience. Moreover, diagnostic laboratories are now able to provide molecular analyses with a detection rate that reaches 95% of patients affected by NF1. A critical revision of the classical grid of diagnostic criteria is now mandatory in order to actualize and mix the “classical” diagnostic criteria and recent knowledge. We remind that some of the proposed new clinical signs did not reach a unanimous consensus for different reasons among the experts to be introduced as new criteria, such as anemic nevus, UBOs, elevated head circumference and neuropsychological pattern.