NF1 and neurofibroma: The NIH diagnostic criteria are highly specific and sensitive in NF1-affected adults as nearly all have cutaneous and/or subcutaneous neurofibromas.3 Examples of individuals consistently presenting only with typical pigmentary manifestations (multiple CALMs with/without freckling) without externally visible plexiform, cutaneous, or subcutaneous neurofibromas are these heterozygous for the NF1 deletion p.Met992del and missense pathogenic variants at residue p.Arg18094–6.