title: Neurofibromatosis in monozygotic twins: a case report.
abstract: A case report is given of a pair of monozygotic twin girls with neurofibromatosis caused by a new mutation. The symptomatology was dominated by a neurofibrosarcoma on the leg of one twin and by a large plexiform neurofibroma on the neck of the other twin. Otherwise, the disease showed similar, although not identical or mirror-image distribution of subcutaneous neurofibromas and café-au-lait spots. The twins had identical HLA and blood group antigens and the same chromosome aberration. These case reports indicate that nonhereditary factors may influence the manifestations of neurofibromatosis. A review of the literature on monozygotic twins with neurofibromatosis is given.
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D006258:Head and Neck Neoplasms / Q000235:genetics; D006801:Humans; D007866:Leg; D009154:Mutation; D019965:Neurocognitive Disorders / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics*; D011247:Pregnancy; D012878:Skin Neoplasms / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics; D014427:Twins; D014430:Twins, Monozygotic
chemical_list: D006680:HLA Antigens