Click on Images for Enlarged View

Findings: Multiple lucent metaphyseal lesions of the proximal and middle phalanges of the fourth and fifth digits, as well as the distal metacarpals of the fourth and fifth digits.

Diagnosis: Multiple enchondromatosis.

Discussion: Enchondromatosis (Ollier's Disease) is a non hereditary disorder of enchondral ossification with lesions distributed throughout the tubular and flat bones of the body. The presenting clinical manifestations are masses that increase in size as the child grows, asymmetric limb shortening and either genu varus or genu valgus deformities.

Radiographs of the young child could be normal in the first few years of life and later demonstrate radiolucent streaking within the metaphysis of involved bones, or at infancy may demonstrate radiolucent masses which can be round, triangular or linear. Stippled calcifications occur with age within the enchondromas. There may be considerable expansion of the tubular bones especially in the hands, and pathologic fractures may occur. Cartilaginous areas extending from the physis can lead to a growth interference resulting in limb shortening and deformities. Enchondromas typically stabilize or regress in adulthood. However, sarcomatous transformation has been described.

Six types of enchondromatosis have been described, of which three are more common. If the multiple enchondromas are purely unilateral or unevenly distributed throughout the metaphyses of the long bones, sparing the cranium and spine, it is called Ollier's Disease. If the enchondromas are seen with multiple cutaneous hemangiomas (soft tissue calcifications/phleboliths) it is called Maffucci's Syndrome. If there is symmetric involvement throughout the body including the cranium, hands and feet, it is known as generalized enchondromatosis. The Ollier's and Maffucci's are more common in boys (2:1). The less frequent types include metachondromatosis which affects the short tubular bones of the hands and feet, and spondyloenchondroplasia in which the enchondromas are associated with platyspondyly, and enchondromas with irregular vertebral bodies.

The differential diagnosis may include polyostotic fibrous dysplasia and diaphyseal aclasis.

References:
Resnick D, Niwayama G: Diagnosis of Bone and Joint Disorders, ed 2.
W.B. Saunders; 1988; 6:3477-3478.

Milgram JW: Radiologic and Histologic Pathology of Nontumorous Diseases
of Bones and Joints 1990; l 1:113-114.

Blickman JG: Pediatric Radiology, The Requisites. Mosby; 1994:157-158.

Return to Pediatric Imaging Page