Diagnosis in NF1, Old and New

Abstract

Neurofibromatosis 1 (NF1) is a ``ras-opathy'' inherited in a dominant way, caused by mutations of Neurofibromin gene. Since the publication of NIH Consensus Conference results in 1988, the medical knowledge of the disease is dramatically improved, both molecularly and clinically, especially in past few years. Consequently, the increasing need for a critical review of the diagnostic approach to this neurocutaneous genetic disease is leading to a re-reading of the NIH diagnostic criteria which takes into account both the new clinical features as well as the availability of new generation molecular testing.