Hereditary multiple exostoses

Case contributed by Subhan Iqbal
Diagnosis almost certain

Presentation

Pain in knee joint.

Patient Data

Age: 30 years
Gender: Male
x-ray

Multiple bony outgrowths involving anterior inferior iliac spine on the right side and neck of femur bilaterally as well as the distal shaft of the femur on both sides and proximal ends of tibia and fibula. Coxa valga is also noted bilaterally. Findings are suggestive of multiple osteochondromas as seen in diaphyseal aclasis. Vascular calcification is seen in the visualized femoral vessels. No fracture or dislocation is seen. No evidence of malignancy.

Case Discussion

Osteochondromatosis, known as hereditary multiple exostoses, is characterized by multiple bony osteochondromas. Most of the time presentation of osteochondromas is bilateral and symmetrical. The broadened shaft at the end of long bones is termed diaphyseal aclasis. Complications seen in hereditary multiple exostoses include nerve impingement, fractures, bursal inflammations, bony deformities and malignant transformation. Sarcomatous transformation is seen in some cases. Coxa vara, when the femoral neck is in a relatively flat position. Coxa valga, when the femoral neck is relatively steep in position.

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