Malignant schwannoma and late-onset form of neurofibromatosis (NF-VII type) in a patient with skeletal manifestations

Introduction: Von Recklinghausen's neurofibromatosis is known to occur with markedly variable expressivity. Nevertheless, cases that do not feature characteristic findings are uncommon. Case: We report an extremely rare, sporadic case of neurofibromatosis, exclusively represented in the skeleton of a 49-year-old woman. The late onset of the disease and the absence of common diagnostic criteria permit us to classify it as neurofibromatosis type VII. Additionally, the disease was complicated by early malignant transformation of a thoracic neurinoma, which was removed by a wide local resection. Two years after surgery, the patient developed local recurrence and liver metastases. She died a few months later despite aggressive chemotherapy.