By Dr. Georges Finidori, pediatric orthopedic surgeon
Ollier disease is a bone disorder involving abnormal tissue proliferation within the bone, in this case cartilage tissue. It is an isolated, non-familial, constitutional pathology (one is born with it) due to somatic mutations.
Treatment is currently mainly orthopedic.
The condition is usually discovered after the age of 2-3 years, often due to limb asymmetry: unequal length, axial deviation. Finger swellings, fractures and X-rays taken for other reasons can also be revealing.
The development of chondromas leads to heterogeneity in bone structure, growth disorders and skeletal curvatures, the main characteristic of which is asymmetry.
Chondromas develop mainly on the limbs and limb girdles, but not normally on the spine, and it is rare to have to remove cartilage proliferations on the thorax.
Some patients are unaffected, with only a few chondromas, particularly on the hands, but there are severe forms with many progressive chondromas.
Kast-Maffucci disease is a particular form of Ollier disease, associating angiomas with chondromas, and is considered more severe, with a greater oncological risk.
The problem of differential diagnosis remains. Several conditions involving abnormal skeletal tissue proliferation can give rise to lesions radiologically similar to those of Ollier disease, notably exostosing disease and fibrous dysplasia.
Diagnosis can be made by a physician familiar with these pathologies. Clinical examination and radiographic assessment are generally sufficient, without the need for more aggressive investigations (biopsy).
Imaging is therefore very important for both diagnosis and monitoring. However, it is important to avoid subjecting patients to excessive radiation doses.
The EOS system is now available, and X-ray images are obtained with a minimal dose of X-rays. EOS does not have excellent definition, but it does provide images of the whole body, and the examination can be safely reproduced if necessary for monitoring purposes. Magnetic resonance imaging (MRI) is mainly used in adults to determine whether chondromas have become active again. Scintigraphy is of little value, nor are CT scans, except for certain preoperative assessments.
It’s a good idea to archive medical and radiological records (today’s information technology makes it easy to classify and store documents, and avoid having to redo them if they are not available).
Monitoring over the years is very important, and relies on clinical examinations, imaging and photographs.