Ollier disease

A rare skeletal disorder characterized by multiple enchondromas

Ollier disease, also known as enchondromatosis, is a rare, non-hereditary skeletal disorder characterized by the presence of multiple enchondromas, which are benign cartilaginous tumors that develop within the bones. These tumors primarily affect the long bones, such as the femur, tibia, and humerus, but can also occur in the hands and feet.

Pathophysiology

Ollier disease is caused by a somatic mutation in the IDH1 or IDH2 genes, which leads to abnormal cartilage growth. The enchondromas are composed of hyaline cartilage and can cause bone deformities, limb length discrepancies, and an increased risk of fractures. The condition is typically diagnosed in childhood, as the enchondromas become more apparent with bone growth.

Clinical Presentation

Patients with Ollier disease often present with asymmetrical limb growth, leading to limb length discrepancies. The presence of multiple enchondromas can cause bone deformities, such as bowing of the long bones, and may result in pain or discomfort. In some cases, the enchondromas can lead to pathological fractures due to weakened bone structure.

Diagnosis

The diagnosis of Ollier disease is primarily based on clinical examination and imaging studies. Radiographs typically reveal multiple, well-defined, radiolucent lesions within the metaphyses of the long bones. MRI and CT scans can provide further detail on the extent and nature of the enchondromas.

Complications

One of the major complications of Ollier disease is the potential for malignant transformation of the enchondromas into chondrosarcoma, a type of bone cancer. The risk of malignant transformation is estimated to be around 25-30%. Regular monitoring and follow-up imaging are essential to detect any changes suggestive of malignancy.

Treatment

There is no cure for Ollier disease, and treatment is primarily focused on managing symptoms and complications. Surgical intervention may be necessary to correct significant bone deformities or to address limb length discrepancies. In cases where malignant transformation occurs, surgical resection of the chondrosarcoma is required.

Prognosis

The prognosis for individuals with Ollier disease varies depending on the severity of the condition and the presence of complications. Regular monitoring and early intervention can help manage symptoms and improve quality of life. The risk of malignant transformation remains a significant concern and requires ongoing surveillance.

Related pages

• Enchondroma
• Chondrosarcoma
• Bone tumor
• Skeletal dysplasia