Related Experiment Video
Updated: Mar 3, 2026
12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
21.4K
Fibrous Dysplasia Meets Intramuscular Myxoma: Mazabraud Syndrome-First Documented Case in Pakistan
Alizah Faisal1, Asfand Yar Ali1, Hooria Waqas1
1Department of Medicine, Rawalpindi Medical University, Rawalpindi, Pakistan.
Case Reports in Medicine
|March 2, 2026
Summary
Mazabraud syndrome (MS), a rare genetic disorder combining fibrous dysplasia (FD) and intramuscular myxoma (IM), requires increased awareness, especially in low-income countries. Early diagnosis and multidisciplinary care are crucial for managing this condition and preventing complications.
Area of Science:
- Genetics
- Endocrinology
- Orthopedics
Background:
- Mazabraud syndrome (MS) is a rare benign genetic disorder characterized by fibrous dysplasia (FD) and intramuscular myxoma (IM).
- It is associated with GNAS gene mutations and typically affects middle-aged females, often presenting with lower limb involvement.
- MS is frequently under-recognized, particularly in low-income countries, potentially leading to delayed diagnosis and management.
Purpose of the Study:
- To highlight a rare case of Mazabraud syndrome in a 64-year-old male, a demographic not typically associated with the condition.
- To emphasize the importance of clinical suspicion and multidisciplinary evaluation for diagnosing MS, especially in resource-limited settings.
- To underscore the need for increased awareness of MS to prevent complications such as bone deformities and fractures.
Main Methods:
- A comprehensive case presentation of a 64-year-old male with a lifelong history of bone deformities and soft tissue swellings.
- Diagnostic workup included physical examination, advanced imaging (X-rays, CT, MRI), and histopathological analysis of bone marrow and soft tissue biopsies.
- Review of clinical presentation, diagnostic findings, and implications for management.
Main Results:
- The patient presented with progressive fatigue, pallor, multiple bone deformities, recurrent fractures, and significant limb shortening.
- Imaging revealed widespread lytic bone lesions and intramuscular myxomas.
- Histopathology confirmed polyostotic fibrous dysplasia (Grade III myelofibrosis) and intramuscular myxomas, leading to a diagnosis of Mazabraud syndrome.
Conclusions:
- This case highlights the variability in Mazabraud syndrome presentation, occurring in an older male patient.
- Timely diagnosis of MS is critical to prevent severe bone deformities, fractures, and functional disability.
- Increased clinical awareness and multidisciplinary approaches are essential for accurate diagnosis and effective management of MS, particularly in underserved regions.
