[Multiple familial osteochondromatosis: presentation of a case]

Area of Science:

• Orthopedics
• Oncology
• Genetics

Background:

• Enchondromas are benign cartilage tumors typically found in bone metaphysis.
• Enchondromatoses are syndromes characterized by multiple enchondromas, potentially causing skeletal deformities and fractures.
• Malignant transformation to osteochondrosarcoma is a significant risk in enchondromatoses, occurring in up to 25% of patients.

Observation:

• A 67-year-old male presented with a rapidly progressing, painful left hip tumor.
• Clinical and radiological findings suggested malignant degeneration (osteochondrosarcoma).
• Family history and diagnostic data confirmed Multiple Familial Osteochondromatosis.

Findings:

• The hip tumor in this patient with Multiple Familial Osteochondromatosis did not show malignant features on histopathological examination.
• Despite rapid degeneration and suspicious imaging, the tumor was confirmed as benign.

Implications:

• This case underscores the diagnostic challenges in distinguishing benign from malignant bone tumors in the context of enchondromatoses.
• Accurate histopathological analysis is crucial for definitive diagnosis and appropriate management, even when clinical and imaging findings are concerning for malignancy.
• Highlights the importance of considering genetic syndromes like Multiple Familial Osteochondromatosis in patients with multiple enchondromas.