NF1 and neurofibromatosis type 1: Neurofibromatosis type 1 (NF1), caused by pathogenic variants in NF1, is an autosomal dominant disease which causes mainly cutaneous clinical manifestations, including cafè-au-lait (CALs) macules, axillary and/or inguinal freckling, neurofibromas, Lisch nodules of the iris, and subcutaneous or plexiform neurofibromas.