Looking Beyond the Bone: When Paget’s Isn’t the Whole Story

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A case study presented at the 2025 APMA National spotlights Mazabraud Syndrome (MzS)—a rare, benign condition defined by the coexistence of polyostotic fibrous dysplasia and intramuscular myxomas—which is commonly misdiagnosed due to radiographic similarities with other metabolic bone diseases, particularly Paget’s disease. With a lack of depth in publication of these cases globally, this presentation urges heightened awareness among foot and ankle specialists, who may be the first to encounter its manifestations.

Case Summary

A 59-year-old woman presented with chronic left foot pain and a plantar soft tissue mass, growing over time. She also had a history of low-energy, atraumatic fractures of the femur and tibia, lytic changes of the metatarsals, multiple myxoid masses, breast cancer, and a previous diagnosis decades ago of Paget’s disease.¹

However, a combination of clinical history, advanced imaging (MRI revealing an 8.3 x 3.0 cm soft tissue lesion in the porta pedis), and tissue biopsy identifying a benign liposarcoma-like mass, prompted re-evaluation. Lab testing actually ruled out Paget’s disease, McCune Albright syndrome, neurofibromatosis, and thyroid pathology.¹ 

The diagnostic synthesis led the treatment team to suspect polyostotic Mazabraud Syndrome, characterized by:

• Extensive fibrous dysplasia in long bones and foot
• Associated intramuscular myxomas, a hallmark feature of MzS

The authors noted that overlap of MzS with Paget’s disease is common, but can be misleading. In general, they shared through their literature review and experience that patient’s typically have a younger presentation age with MzS, often have multiple myxomas, and do not exhibit the classic “cotton wool” skull findings or have pelvic involvement as one would expect with Paget’s disease.¹

Management and Considerations

• Although MzS is benign, the authors shared that ongoing surveillance is advised due to a small but real risk of malignant transformation.
• Coordination with multidisciplinary teams is essential for long-term care.  
• Routine bone and soft tissue imaging, as well as awareness of symptom clusters (eg, repeated fractures, soft tissue masses), can aid in earlier diagnosis and reduce disability.
• Biopsy and MRI were crucial in this case to differentiate MzS from malignant bone lesions and liposarcoma. 

Clinical Takeaway

This case underscores the importance of including rare syndromic pathologies like Mazabraud Syndrome in differential diagnoses for atypical foot pain with deformity and soft tissue masses. This particular patient went nearly 6 decades before true and accurate diagnosis, demonstrating how clinical collaboration, biopsy, and advanced imaging are paramount to proper evaluation. 

Reference
1.        Higham MA, Campbell SN, Killeen AL. Beyond the Bone: A Misdiagnosis of Paget’s Disease Reveals Polyostotic Mazabraud Syndrome. Poster presented at: APMA National conference; July 2025; Grapevine, TX.