Ollier disease and Maffucci syndrome
Tutorial

Frank J. Frassica, MD, Franklin H. Sim, MD

Tutorial

Other benign cartilage tumors besides those mentioned in this section are Ollier disease and Maffucci syndrome.

Characteristics of Ollier disease include multiple enchondromatosis, usually unilateral benign cartilage tumors of bone.

Maffucci syndrome

Maffucci syndrome - enchondromatosis that is associated with multiple cutaneous or viceral hemangiomas. Some of the hemangiomas have calcified walls which can be observed as seen on x-ray examination (they appear as small round calcifications -- phleboliths).

Ollier disease

To make the diagnosis of Ollier disease, the bone should be dysplastic. Patients may have multiple enchondromas with normal-appearing bones and, hence, they do not have Ollier disease.

Ollier disease is a rare syndrome. Historically, we are taught that approximately 30% of patients with Ollier disease will develop a chondrosarcoma. These are usually very low-grade lesions. If the patient has associated soft tissue angiomas, then the patient has Maffucci syndrome. The risk of chondrosarcoma in Maffucci syndrome may be as high as 100%. Again, these are low-grade chondrosarcomas. The patient is more typically to die from a high-grade visceral carcinoma, such as an astrocytoma, pancreatic tumor, liver tumor, or breast cancer.