In the current study, we confirmed the paucity of superficial plexiform (0/84 ≥9 years) and cutaneous neurofibromas (0/38 ≥19 years), in line with the original report.4 None of the individuals had externally visible plexiform neurofibromas or histopathologically confirmed cutaneous or subcutaneous neurofibromas (all P < 0.0001, statistically significant at FDR of 0.01 after B–H correction when compared with the cohort of individuals with the NF1 missense pathogenic variants affecting codons 844–848 and the “classic” NF1-affected population, Table 2). The gene discussed is NF1; the disease is plexiform neurofibroma.