Diagnostic criteria established in 1987 have been revised in 2021, including six or more café-au-lait macules (CALMs, ≥5 mm in prepubertal individuals); axillary or inguinal freckling; two or more neurofibromas or one plexiform neurofibroma (PN); optic pathway glioma; Lisch nodules or choroidal abnormalities; a distinctive osseous lesion (e.g., sphenoid dysplasia, anterolateral bowing of the tibia, or pseudoarthrosis of a long bone); and a heterozygous pathogenic NF1 variant [4]. Here, NF1 is linked to plexiform neurofibroma.