Pagetoid polyostotic fibrous dysplasia

Area of Science:

• Orthopedics
• Genetics
• Pathology

Background:

• Fibrous dysplasia (FD) is a benign skeletal disorder caused by Gs α gene mutations.
• It can affect one or multiple bones, leading to characteristic bone lesions.

Observation:

• A 30-year-old female presented with a year-long history of progressive swelling under her right eye.
• Examination revealed extensive facial swelling involving the skull, jaws, and causing proptosis and nasal deviation.
• CT scans showed widespread lytic lesions across multiple skeletal sites.

Findings:

• Histopathology revealed interconnected trabeculae resembling a mosaic pattern, characteristic of Paget's disease.
• The findings were consistent with pagetoid polyostotic fibrous dysplasia, a rare variant.

Implications:

• This case highlights the diverse and extensive presentation of fibrous dysplasia.
• Accurate histopathological diagnosis is crucial for managing complex skeletal lesions.
• Surgical intervention can improve cosmetic outcomes and patient quality of life.