Table 1.

Comparison of the NIH diagnostic clinical criteria for NF1 from 1988 with the newly revised NF1 diagnostic criteria according to Legius et al. (2021)

^aLegius et al. (2021) Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med 23:1506–1513

^bNeurofibromatosis: conference statement: National Institutes of Health Consensus Development Conference (1988) Arch Neurol 45:575–578

^cIf only café-au-lait macules and freckles are present, the diagnosis is most likely NF1 but exceptionally the individual might have another diagnosis such as Legius syndrome. At least one of the two pigmentary findings (café-au-lait macules or freckles) must be bilateral

^dSphenoid wing dysplasia is not a separate criterion in case of an ipsilateral orbital plexiform neurofibroma

^eThinning of the long bone cortex turned out not to be the primary lesion. Instead, anterolateral bowing of the lower limb and medullary canal narrowing as well as cortical thickening in the tibia and/or fibula is observed. Therefore, the orthopaedic criterion has been rephrased accordingly

^fIn the revised diagnostic criteria, only an affected parent but not affected siblings and offspring qualify as a criterion for NF1. If only siblings are affected, the diagnosis of CMMRD is possible. ‘Offspring’ was omitted because if an adult person has only one diagnostic criterion and one offspring meeting the diagnostic criteria, mosaic NF1 cannot be excluded