Ollier Disease Overview
Learn About Ollier Disease
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas in people with Ollier disease, the relationship between the mutations and the signs and symptoms of the disorder is not well understood.
Ollier disease is estimated to occur in 1 in 100,000 people.
Ollier disease is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Ollier disease, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.
Mayo Clinic
Laurel Littrell is a Radiologist in Rochester, Minnesota. Dr. Littrell and is rated as an Advanced provider by MediFind in the treatment of Ollier Disease. Her top areas of expertise are Synovial Osteochondromatosis, Maffucci Syndrome, Ollier Disease, and Liposarcoma.
Mayo Clinic
Steven Moran is a Plastic Surgeon and an Orthopedics provider in Rochester, Minnesota. Dr. Moran and is rated as an Experienced provider by MediFind in the treatment of Ollier Disease. His top areas of expertise are Kienbock's Disease, Bone Tumor, Adult Soft Tissue Sarcoma, Bone Graft, and Fasciotomy. Dr. Moran is currently accepting new patients.
Mayo Clinic
Doris Wenger is a Radiologist in Kasson, Minnesota. Dr. Wenger and is rated as an Experienced provider by MediFind in the treatment of Ollier Disease. Her top areas of expertise are Synovial Osteochondromatosis, Chondroma, Tenosynovitis, Myxoid Liposarcoma, and Osteotomy.
Background: Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood. People with OD or MS are also at an increased risk of blood vessel disorders and specific cancers. Researchers want to learn more about what causes these disorders.
Summary: REM is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc.. This approach has been individuated in order to corroborate and integrate data from different reso...
Published Date: February 01, 2016
Published By: National Institutes of Health