Ollier Disease is a nonhereditary condition in which the patient develops multiple benign cartilage tumors, or enchondromas. While isolated enchondromas are not terribly uncommon, Ollier Disease (or multiple tumors) is quite rare. It has been estimated to occur in less than 1 in 100,000 births. It is believed to be non- herditary and related to a spontaneous mutation. The basic underlying issue in Ollier Disease, the multiple benign cartilage tumors, does not seem terribly concerning. However, there are two reasons why this can be a very difficult condition.
First, and most concerning, there is a “high” risk of malignancy. Some estimate this to be as high as 25% of patients. Either the previously discussed benign cartilaginous tumor can become malignant or another tumor may present. This can include scary things like chondrosarcoma (malignant cartilage tumors) or even brain tumors. For this reason, patients with Ollier Disease are monitored closely over time.
Ollier Disease is different than Maffucci syndrome which is a related condition in which patients have enchondromas as well as vascular anomalies, hemangiomas. These are essentially blood vessel masses just below the skin which can lead to skin discoloration.
The second difficult issue is bone dysplasia or bone deformity. The cartilage growths can lead to abnormal growth in any bone affected. This can be most difficult to treat if it affects a segment with two bones such as the forearm (with radius and ulna). In this situation, slower or angled growth of one bone affects the function of the unit. The challenging task is monitoring and then intervening at the appropriate time to minimize such deformity and functional limitations.
Ollier Disease typically presents at a young age but is typically not noted at birth. The enchondromas are painless and it is the deformity or the functional limitations (i.e., a lack of forearm rotation) that lead to presentation to the physician. One side is predominantly affected. As an upper extremity surgeon, I most commonly encounter and treat enchondromas in the hands or forearm bones.
Here are some images from a recent patient with Ollier Disease. The diagnosis may not be straightforward but these x-rays are very helpful.
|Right hand xray in Ollier Disease. Not the abnormal appearance of the index finger proximal phalanx.|
|Ollier Disease with humerus involvement.|
|Finally, Ollier Disease affecting the radius. This concerns me the most as the growth of the radius is already affected and will only likely get worse.|