Neurofibromatosis type 1 or von Recklinghausen's disease is one of the most common autosomal dominant genetic disorders. Between 29% and 77% of patients may suffer from a wide range of skeletal abnormalities and, thus, patients with neurofibromatosis frequently undergo skeletal scintigraphy, at which time the common peripheral nerve soft-tissue tumors that occur in this syndrome (neurofibromas, plexiform neuromas and neurofibrosarcomas) may be demonstrated.
Methods: Single or multiphase 99mTc methylenediphosphonate (MDP) bone scans were performed in five patients with neurofibromatosis as part of their clinical evaluation.
Results: We imaged neurofibrosarcomas in three patients, cutaneous neurofibromas in one patient and a plexiform neuroma in one patient.
Conclusion: Single- or multiphasic bone scans may localize common soft-tissue tumors in neurofibromatosis.