Mazabraud's Syndrome: A Case Report and Up-To-Date Literature Review

Objective: Mazabraud's syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. Fibrous dysplasia, is generally localized to pelvis and femur and it results in a fragile bone with deformities, pain, pathological fractures and functional impairment. Intramuscular myxomas, are rare benign mesenchymal neoplasms that exceptionally may evolve to malignant forms. Methods: This case report describes a 66-year-old woman with Mazabraud’s Syndrome (MS), characterized both by monostotic right femur fibrous dysplasia and by a solitary intramuscular myxoma at the right quadriceps muscle, that underwent a long-term treatment (4 years) with intravenous zoledronic acid. Results: Zoledronic acid therapy rapidly lowered bone pain together with a reduction of intramuscular myxoma volume, but did not affect the extension of fibrous dysplasia. No adverse effects have been observed during treatment. Conclusion: Highly active bisphosphonates are commonly used for the treatment of bone metabolic disorders and they are generally well tolerated. Zoledronic acid may represent a promising alternative to surgical intervention in MS, although its use in rare form of bone fibrous dysplasias is still controversial.

Osteosarcomatous Transformation in the Setting of Mazabraud’s Syndrome: A Case Report and Review of the Literature

Introduction. Mazabraud’s Syndrome is a rare condition that is defined by the presence of fibrous dysplasia lesions in the bone and intramuscular myxomas in the soft tissue. Malignant transformation, in the setting of Mazabraud’s Syndrome, of the fibrous dysplasia lesions into a sarcomatous neoplasm occurs in less than 1% of cases—with only six previously reported cases. Case Presentation. Here, we present a 62-year-old Caucasian female who developed an osteosarcoma in a fibrous dysplasia lesion of the proximal femur in the background of Mazabraud’s Syndrome. The patient was treated with wide excision and endoprosthetic reconstruction. She declined adjuvant chemotherapy. She is alive without evidence of disease one-year postoperatively. Conclusion. Patients with Mazabraud’s Syndrome remain at low risk for malignant transformation. However, close monitoring of asymptomatic patients with this condition for radiographic changes in their lesions and/or clinical symptoms is recommended.

Rare case of symptomatic (painful) fibrous dysplasia of 12th Rib

Fibrous dysplasia (FD) is a common benign intra- medullary lesion of the skeleton characterized by proliferation of fibro-osseous tissue. It is viewed as a developmental abnormality that is typically seen in adolescents and young adults. It can present as monostotic (70% to 80%), polyostotic fibrous dysplasia (20% to 30%), McCune-Albright syndrome (2% to 3%), or Mazabraud’s syndrome. Monostotic fibrous dysplasia accounts upto 30% in the ribs. It is often asymptomatic and incidentally detected on radiographs. We report a case of a 35-year-old lady who presented with swelling on the right chest wall of 5-year duration and was increasing in size and painful for 8 months. Her chest radiograph showed a cystic mass of the 12th rib. On computed tomography scan, mass turned out to be focal lytic lesion of the 12th rib. Surgical resection of 12th rib was done. Histopathology of the lesion confirmed the diagnosis of FD. Although it is fairly common in ribs, no previous literatures on FD of 12th rib was found.