Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Eric LegiusLudwine MessiaenPierre WolkensteinPatrice PanczaRobert A AveryYemima BermanJaishri BlakeleyDusica Babovic-VuksanovicKarin Soares CunhaRosalie FernerMichael J FisherJan M FriedmanDavid H GutmannHildegard Kehrer-SawatzkiBruce R KorfVictor-Felix MautnerSirkku PeltonenKatherine A RauenVincent RiccardiElizabeth SchorryAnat Stemmer-RachamimovDavid A StevensonGianluca TadiniNicole J UllrichDavid ViskochilKatharina WimmerKaleb Yohaynull nullSusan M HusonD Gareth EvansScott R PlotkinPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.