NF1 and neurofibroma: Genetic testing performed to detect pathogenic NF1 variants may also facilitate the diagnosis in some families with spinal NF1 (Burkitt Wright et al. 2013) or patients with the pathogenic in-frame deletion in NF1 exon 17 at position c.2970-2972 delAAT (p.Met992del) which is associated with typical pigmentary features of NF1, but not with neurofibromas (Upadhyaya et al. 2007; Quintans et al. 2011; Koczkowska et al. 2019).