Ollier disease also known as enchondromatosis, is a non-hereditary, sporadic, skeletal disorder characterised by multiple enchondromas that are principally located in the metaphyseal regions.
Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. In the original description of Ollier disease, the enchondromas where predominantly confined to one side and limited to the limbs. As such, some authors prefer to use the term Ollier disease in cases where this distribution is present, and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric 5.
Ollier disease is seen in both sexes without gender predilection, and usually becomes apparent by early childhood 3-4. The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations.
Clinical presentation is usually with deformity and pain (present only during periods of rapid growth) 3-4. If pain occurs when the child is older, this should raise the concern of malignant transformation or pathological fracture. If involvement of the lower limbs is significant, leg length discrepancy may occur.
The aetiology of Ollier disease has been associated to post-zygote state mutations during development. More interestingly, in part of the literature has been reported that the PTHrP receptor has been implicated as a gene responsible for cases of Ollier disease in patients with family history of mild skeletal dysplasia in their male parents.
Once the individual stops growing then in general so do the enchondromas. If growth occurs then, this too is a sign of potential malignant transformation 4.
There is an increased risk of chondrosarcoma occurring later in life. The risk has been reported to be up to 25 - 30% at 40 years 1-2.
They can occur anywhere but most frequently involve the short tubular bones of the hands and feet. Most patients have bilateral involvement but often significant asymmetry 4.
Plain films show multiple enchondromas. Larger lesions can show cartilage calcification in a typical rings and arcs pattern.
For further discussion of appearances, please refer to the article on enchondromas.
Treatment and prognosis
The extent of disease is highly variable and thus so is the degree of impairment. If only a few bones are involved then little if any handicap is present, although the affected bones do have a higher rate of fracture.
If extensive involvement then growth impairment, deformity and functional impairment may be present, and these may require corrective surgery.
It is named after Louis Leopold Ollier : French surgeon
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- 6. Nat Genet. 2002 Mar;30(3):306-10. Epub 2002 Feb 19.
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