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Ollier's syndrome

Summary

Ollier disease (enchondromatosis) is a rare, non-inherited disease where multiple enchondromas occur. Some of the enchondromas may become chondrosarcomas.

The lesions appear in childhood and worsen as the child grows. The tumors rarely progress after skeletal maturity.
Patients have shortening, deformity, and pain in multiple bones.
All or part of a limb may be involved. The extent of the lesions is variable. Multiple lesions in the metaphysis, epiphysis, and diaphysis grow and expand. The lesions are lytic, expansile, and may cause pathological fracture.
Treatment is needed to repair fractures, support fragile bones, and treat enchondromas that may have become sarcomatous.
Complete Information on this Tumor
Introduction and Definition: 

Ollier disease is a rare, non inherited disease of unknown cause characterized by multiple enchondromas. The original description of this disease was by Louis Xavier Ollier in 1898. The definition of the syndrome was clarified by Hunter and Wiles in 1935. The disorder was defied as non-inherited, unilateral, with childhood onset. More recent opinion is that unilateral involvement is a particular form of the disease, not a defining factor. The current definition of this disease is multifocal hyperplastic cartilaginous tumors in the metaphysis and diaphysis of long bones. Numerous subtypes of the disease have been identified. Spranger divided the disease into 6 types. Type I is multiple, mostly unilateral enchondromas of tubular and flat bones, with hand involvement. Type II is Mafucci syndrome, and the spine is not usually involved. Type III is enchondromas and osteochondromas, with osteochondromas of the digits. Type IV has enchondromas of the bones and spinal dysplasia, without involvement of the hands. Type V has bone and vertebral body lesions, with minimal hand involvement, and type VI has severe hand and foot lesions, mild hand lesions, and erosion of the iliac crests. Other types have also been proposed. Sarcomatous degeneration may occur in 25 to 50% of Ollier patients and 100% of Mafucci patients. The volume of the cartilagenous lesions appears to be predictive of the risk of sarcoma.

Incidence and Demographics: 
About one in 100,000 persons is affected. The lesions appear in childhood, and may affect all or part of one extremity.
Symptoms and Presentation: 

The child has abnormal growth, shortening, and deformity of the affected limb.

X-Ray Appearance and Advanced Imaging Findings: 
Multiple lytic lesions occur in the affected limb. The leisons are lytic, expansile, and may destroy the cortex. In the mataphysis the unique longitudinal lines seen in this disease are called "sled runner tracks". The lesions may undergo sarcomatous degeneration, whereupon they enlarge, aggressively destroy the adjacent bone, and expand into the soft tissues.
Histopathology findings: 
The cartilage lesions are very cellular, and may have large number of binucleated or atypical chondrocytes. The cellular atypia is far greater than see in enchondroma. Differentiation from sarcoma is difficult. About 20 to 30% of patients develop a chondrosarcoma or other associated sarcoma.
Treatment Options for this Tumor: 
Curettage of troublesome lesions is effective. The lesions are expected to grow until skeletal maturity, and treatment should be planned accordingly. Treatment should be determined on a case by case basis. Careful monitoring and appropriate intervention to ensure early diagnosis in the event of sarcomatous degeneration is mandatory. In severly involved cases and in Mafucci cases, both the bony lesions and the viscera should be monitored for sarcomas. However, frequent xrays or CT scans may result in risk of radiation-associated malignancy in these patients. Ultrasound examinations should be used where possible to monitor for sarcomatous degeneration.
Outcomes of Treatment and Prognosis: 
Outcomes for treatment of the benign lesions is excellent. If sarcomatous degeneration occurs, survival depends on the grade of the tumor, as well as the size and location. The most common associated sarcoma is low grade chondrosarcoma, which has a good prognosis following complete surgical removal. In other cases, osteosarcoma, cordoma, glioma, and ovarian tumors have been reported.
Special and Unusual Features: 
Hand lesions may be highly expansile and appear more aggressive than long bone lesions. Although multiple enchondromas may occur in the hand, the risk of sarcomatous degeneration in the hand appears to be low. Multiple sarcomas may develop at once, as shown in the images on this page, or sequentially.
Suggested Reading and Reference: 
Gatan et al, JBJS - AM 2010;92:2336-43
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