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 (non-cancerous) 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.
When the enchondromas of Ollier Disease are accompanied by substantial, most often benign, proliferation of blood vessels (hemangiomas), the array of symptoms is known as Maffucci Syndrome.
Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp.
The pelvis is not infrequently involved; in rarer cases, the ribs, breast bone (sternum), and/or skull may be affected. Deformities may also develop in the wrists and ankles. Limb shortening and bowing of the long bones may occur in some affected individuals. The abnormal growth of bone and cartilage often ceases with advancing age as the more flexible cartilage is replaced by bone.
Ollier disease also hampers proper development of bone (ossification). Fractures are a common occurrence in people affected by this disorder and usually heal well. On rare occasions, the development of some forms of malignant bone growths have been associated with Ollier disease.
The exact cause of Ollier disease is not known. In some cases, it may be inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.
Ollier disease is a very rare disorder that affects males and females in equal numbers. Symptoms are most often observed in children but can occur in adolescents and adults. This disorder can affect all races.
Methods of diagnosing Ollier disease include bone biopsy, x-rays, magnetic resonance imaging (MRI), and recording of internal body images (tomography). Surgical correction of deformities of the affected limb(s) has been helpful. In severe cases, artificial (prosthetic) joint replacement may becom. necessary. Fractures routinely heal without complications. Affected individuals should be checked routinely by a physician for malignant changes in the bones and joints (e.g., chondrosarcoma).
A supportive team approach for children with Ollier disease may be of benefit. Such a team approach may include physical therapy and other medical, social, or vocational services. Other treatment is symptomatic and supportive.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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Research is being conducted into the causes of, and surgical treatment options for, people with bone disorders.
Researchers at the National Institutes of Health/National Institute on Aging and at the Hospital for Special Surgery in New York City are investigating the genetics of the disorder and treatment respectively. Currently, researchers are looking for families with multiple members affected by Maffucci syndrome and/or Ollier disease. For more information, contact:
Clair A. Francomano, M.D.
National Institute on Aging
Gerontology Research Center
5600 Nathan Shock Drive
Baltimore, MD 21224-6825
Dr. Francomano works in collaboration with Dr. Miikka Vikkula, who is located in Belgium. He may be contacted by e-mail at: email@example.com
When appropriate, inquiries at Dr. Francomano’s office will be redirected to physicians at the Hospital for Special Surgery.
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