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Introduction And Importance: Mazabraud's syndrome is a rare condition, describing the presence of fibrous bone dysplasia and intramuscular myxomas, with an incidence of 1:1,000,000. The aim of this article is to provide a review of the clinical presentation of Mazabraud's syndrome, including indications for surgical treatment, and follow-up strategies.

Case Presentation: A 46-year-old woman presented with a 3-month history of a painless mass in the right gluteal region, she referred a rapid increase in the mass's volume in the 3 weeks prior to consultation.

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Myxoma: An Unusual Aggressive Orbital Lesion.

Ophthalmic Plast Reconstr Surg

January 2025

South Australian Institute of Ophthalmology, Royal Adelaide Hospital, Adelaide, Australia.

Myxoma is a rare tumor that can be challenging to diagnose, with imaging findings that can be nonspecific. We present a case of a 21-year-old man who presented with a subacute history of right visual deterioration and proptosis. Imaging showed a large right superomedial orbital mass of 43 × 31 × 24 mm, which enhanced heterogeneously and was eroding the adjacent orbital roof and medial wall.

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Mazabraud's syndrome in female patients: Two case reports.

World J Orthop

June 2024

Department of Orthopedics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, Zhejiang Province, China.

Background: Mazabraud's syndrome (MS) is a rare and slowly progressive benign disease characterized by the concurrent presence of fibrous dysplasia of bone and intramuscular myxoma, and is thought to be associated with mutations of the gene. To date, only about 100 cases of MS have been reported in the literature, but its standard treatment strategy remains unclear.

Case Summary: We report two cases of MS in young women who underwent different treatments based on their symptoms and disease manifestations.

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Fibrous dysplasia: A tale of two syndromes.

SA J Radiol

May 2024

Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.

Article Synopsis
  • - Fibrous dysplasia (FD) is a rare bone disorder that can occur in one (monostotic) or multiple (polyostotic) bones and can sometimes be linked to syndromes with additional symptoms.
  • - Two syndromes related to FD are Mazabraud syndrome, which features polyostotic FD along with muscle tumors, and McCune-Albright syndrome, characterized by polyostotic FD, early puberty, and skin spots.
  • - Diagnosis typically involves recognizing specific bone features in imaging, but MRI can sometimes confuse the condition with more serious issues; catching these disorders early is crucial for effective treatment and minimizing complications.
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