Diaphyseal aclasia

Case contributed by Mohammed A. Mahdi

Presentation

Right leg swelling with chronic pain.

Patient Data

Age: 16 years
Gender: Male
x-ray

Multiple bony exostoses of different sizes in the proximal tibia and fibula and distal tibial metaphysis consistent with diaphyseal aclasia.  No soft tissue mass.

Case Discussion

Multiple osteochonromas (known as diaphyseal aclasia) is a rare autosomal disorder characterized by multiple bone exostosis mainly affecting the long bones with resultant deformities.  It also involves the ribs and scapula.  There is a 5% increase in the risk of malignancy in the cartilaginous cap (chondrosarcoma).

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