Revised diagnostic criteria for NF1: an international consensus recommendation

Author: Eric Legius, Ludwine Messiaen, Scott R. Plotkin, et al.

Published On: 08/03/2021

By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, new research has resulted in the revision of diagnostic criteria for neurofibromatosis type 1 (NF1) and the establishment of diagnostic criteria for Legius syndrome (LGSS). 

Using a multi-step process, researchers agreed that new clinical features and genetic testing will be used in diagnosing NF1, whereas the criteria for LGSS was created to differentiate between NF1 and LGSS.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.

Read the full report here.