Ollier disease

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.

Monitoring in childhood
In children, we recommend regular clinical monitoring every year, with orthopaedic consultations, if possible at a Reference and/or Competence Centre, which can offer useful specialization in this rare pathology. They do not, however, eliminate the need for local monitoring and care, with the best possible coordination of all those involved. At present, there is no curative treatment, only essentially orthopedic care to treat the progressive complications of the disease. Fractures are not uncommon in children, and are usually treated with simple plaster cast immobilization. In Ollier disease, there are no problems with bone consolidation after fracture. Osteotomies with osteosynthesis, in particular centromedullary nailing, may be used for deformed, fragile and sometimes painful bone segments. For moderate inequalities in lower limb length (3 / 4 cm), growth is slowed on the longer limb by epiphysiodesis towards the end of growth. For greater inequalities, bone lengthening can be performed. Lengthening is relatively straightforward, as the bone regenerated by the lengthening is not chondromatous, and the growth disturbance concerns only the skeletal segment, with no shortening of other tissues (skin, muscles, vessels, nerves, etc.). If necessary, not only inequalities in length, but also axial deviations and limb rotation anomalies can be corrected simultaneously. Chondromas of the upper limbs can induce growth asymmetries, particularly of the two bones of the forearm, with a deviation of the wrist and hand that may be associated with dislocation of the radial head at the elbow. These antibrachial deformities need to be corrected at an early stage, before the onset of elbow dislocation, if possible. Chondromas of the hands need to be operated on at an early stage, before significant deformities and mobility limitations of the finger joints occur. The procedure is straightforward: the chondromatous areas are removed and the phalanges remodeled. It is rare in children to have to remove large, disabling chondromas. There is a risk of bleeding with these procedures, which should not be underestimated. In Maffucci syndrome, angiomas only appear towards the end of growth. Intrusive angiomas need to be removed, particularly in areas where the feet rest. It's not possible to remove them all, and they tend to recur. Finally, for children, we try to achieve optimal functional status at the end of growth. Finally, malignant transformations in children are very rare. Surgical procedures do not appear to entail any evolutionary risk for chondromas. On the other hand, treatment of degeneration in adults may be complicated by the presence of osteosynthesis material. Finally, in children, since it is impossible to cure the disease and remove all the chondromas, we remain modest in our surgical actions, limiting the number of interventions.
Monitoring in adults
Management in adults is similar to that in children. However, tolerance to surgery is more difficult, and post-operative follow-up is longer and more complicated. As in children, limb deformities and deviations are corrected, and large, troublesome chondromas are removed. Chondroma degeneration appears to be more frequent in Maffucci syndrome. In the case of Ollier disease, it is difficult to assess the frequency of occurrence of malignant tumors. The important thing is to establish self-monitoring: any change in a chondroma, new-onset pain or increase in volume are suspicious. Clinical monitoring and imaging should enable early detection of malignant evolution, and lead to complete excision surgery. Carcinological surgery, backed up by adjuvant treatment if necessary (chemotherapy, radiotherapy), can only be performed in specialized centers. Oncological surveillance may also be recommended in adulthood, as the risk of cancer in general appears to be slightly higher than in the general population.

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