Olliers Disease

Ollier's Disease

Description, Causes and Risk Factors:

Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). The pelvis is often involved; and even more rarely, the ribs, breast bone (sternum), and/or skull may also be affected.

Ollier disease manifests as greater than normal growth of the cartilage in the long bones of the legs and arms so that growth is abnormal and the outer layer (cortical bone) of the bone becomes thin and more fragile. These masses of cartilage are benign (noncancerous) tumors known as enchondromas. Enchondromas may occur at anytime. After puberty these growths stabilize as cartilage is replaced by bone. In rare cases, the enchondromas may undergo malignant changes (e.g., chondrosarcomas). The exact cause of Ollier disease is not known, although in some cases it may be inherited as an autosomal dominant genetic trait.

The estimated prevalence of Ollier's disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier's disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery).

Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and not familial. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic) mutations.

There is ongoing research concerning Ollier's Disease. One recent area of research is the formation of other diseases from Ollier's disease. In a recent case study published in 2008, researchers studied a young girl with syndromic malformation complex. Syndromic malformation complex is a disease that results in extreme pressure on both the spinal cord and nerve roots. The young girl also presented an extented case of Ollier's Disease. These researchers concluded that the cartilaginous cysts formed in the bone of the vertebrae from her Ollier's Disease led to the formation of the syndromic malformation complex. In this same study, they supported the hypothesis that Achondroplasia (a common form of dwarfism) patients seem to have a greater chance of producing Ollier's Disease. This is because Achondroplasia affects various tissues of the body, including the cartilaginous growth plate in the skeleton, and Enchondromas are found to develop more closely to growth plate cartilage.

Other research on Enchondromatosis being greatly studied deals with the formation of the disease. Although it is readily known what Ollier's Disease is, why it happens is still being questioned. According to the Journal of Rare Diseases, it is still unknown whether Ollier's disease occurs because of a single mutation in a gene or a combination of mutations. There is no evidence that Ollier's disease is passed on from parent to child, so the mutations seem to not be inherited. Through scientific study, these researchers predict that Ollier's disease results from a mutation in the post-zygotic somatic region to result in mosaism. In this same article, researchers discuss the risk of enchondromas to form into chondrosarcomas, or cancerous tumors. This is another area of great research. They support evidence that the formation of cancerous tumors from Ollier's Disease come from varying expression of PTHrP to PTHR1 (both parathyroid hormone-related proteins).

The expression of PTHrP and PTHR1 is an area of great research currently with Ollier's disease. A series of studies on mutant PTHrP on transgenic mice and published their results in a recent article in Nature Genetics. They found that the mutant, PTHR1, led to Ollier's Disease in vitro in transgenic mice.


The lesions of Ollier's disease tend to be bilateral but to predominate on one side. Enchondromas usually occur in the short tubular bones of the hands and feet as well as long bones of upper and lower extremities. Palpable masses develop that may cause angular deformity and asymmetrical growth. The masses increase in size as the child grows along with asymmetrical shortening of a limb and either genu varus or genu valgus deformities. Varus deformity is very common.


The differential diagnosis may include:

    Hereditary multiple endochondromatosis (HME).

  • Other rare forms of chondromatosis (which include metachondromatosis, spondyloenchondroplasia and genochondromatosis types I and II).

  • Polyostotic fibrous dysplasia.

  • Diaphyseal aclasis.

  • Kaposi's sarcoma.

  • Klippel-Tr


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