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Mazabraud's syndrome in female patients: Two case reports
Xiu-Mao Li1,2,3, Ze-Hao Chen1,2, Ke-Yi Wang1,2
1Department of Orthopedics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, Zhejiang Province, China.
World Journal of Orthopedics
|July 1, 2024
Summary
Mazabraud's syndrome (MS), a rare condition involving bone fibrous dysplasia and intramuscular myxoma, presents varied treatment approaches. Surgical resection is key for myxomas, while fibrous dysplasia treatment is symptom-dependent, requiring close monitoring.
Area of Science:
- Endocrinology
- Genetics
- Orthopedics
Background:
- Mazabraud's syndrome (MS) is a rare genetic disorder characterized by fibrous dysplasia of bone and intramuscular myxomas.
- Mutations in the GNAS gene are associated with MS, though its pathogenesis is not fully understood.
- The optimal treatment strategy for MS remains unclear, with limited case reports available.
Observation:
- Two young female patients with MS presented with distinct clinical manifestations and received tailored treatments.
- One patient with a femoral neck fracture and myxomas underwent surgical fixation, bisphosphonates, and myxoma excision, with GNAS mutation confirmed.
- The other patient with iliac fibrous dysplasia and a myxoma received conservative management for bone lesions and surgical resection for the myxoma.
Findings:
- Treatment for MS involves a combination of surgical resection for myxomas and selective interventions for fibrous dysplasia based on symptoms like fractures or pain.
- Both patients demonstrated stable conditions after follow-up periods of 17 months and 3 years, respectively.
- GNAS gene mutations were confirmed in at least one patient, highlighting the genetic basis of the syndrome.
Implications:
- Individualized treatment plans are crucial for managing Mazabraud's syndrome, considering the specific symptoms and disease distribution.
- Close long-term follow-up is essential due to the potential for malignant transformation of fibrous dysplasia in MS patients.
- Further research is needed to establish standardized treatment guidelines for this rare condition.
