Neurofibromatosis type 1 is one of the most common genetic diseases with autosomic dominant inheritance pattern in humans. The main radiological findings are: scoliosis, kyphoscoliosis, bone erosions, abnormal osseous growth, pseudarthrosis, meningeal cysts, deformity of the posterior wall of the vertebral bodies ("scalloping"), pectus excavatum, osteolytic lesions in the long bones and central nervous system abnormalities. The authors present the statistical data from the analysis of the radiological findings in 82 patients with neurofibromatosis type 1 attending the "Centro de Pesquisa e Atendimento em Neurofibromatose", in São José do Rio Preto, SP, Brazil, a multidisciplinary center for the study and treatment of neurofibromatosis.
Keywords: Neurofibromatosis, Neurofibromatosis type 1, Radiology, Phacomatosis