Case of the Month November 2014, Page 2

Findings:

Radiographs demonstrate varus bowing deformity of the left femur with expansile mixed lytic and sclerotic lesions affecting the proximal and distal femur, proximal tibia, and proximal fibula. The zones of transitions are narrow. Endosteal scalloping is seen in the distal femur. There is no complicating fracture. Axial and coronal STIR images show lobular areas of high signal within the lesions consistent with chondroid matrix. There are no soft tissue masses. Note is made of a surgical biopsy tract in the distal lateral left thigh

Answer:

C. Enchondromatosis

Findings are most consistent with enchondromatosis, also known as Ollier disease, a dysplasia predominantly affecting metaphyses and characterized by chondroid containing lesions (enchondromas). The femurs and tibia are the most common areas of involvement. Long bones of the hands and feet may also be affected. Complications include growth deformity/ limb length discrepancy, complicating fractures, and malignant transformation into chondrosarcoma. Features suggesting malignant transformation are pain, growth of lesion after the patient is skeletally mature, cortical destruction and soft tissue mass. The disease affects limbs in an asymmetric pattern and is commonly unilateral.  A related condition, in which enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome.

Polyostotic fibrous dysplasia is a reasonable consideration if only the plain films were available; however, demonstration of chondroid matrix on MRI, eliminates it from the differential.

References:

Caroline Silve, Harald Jüppner: Ollier disease. Orphanet Journal of Rare Diseases. 1:37, 2006.


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