Pdf the multiple enchondromatosis is a rare disease with some cartilaginous tumors in the short tubular bones, long tubular bones and flat. Maffucci syndrome and ollier s disease conference 2014 duration. These growths may lead to skeletal deformities, limb discrepancy, and fractures. Abstract ollier s disease is a multiple enchondromatose which constitutes 3% of benign bone tumors. Typically, ollier disease is caused by mutations in one of three genes pth1r, idh1, or idh2. The cause of ollier disease is not completely understood. Ollier disease genetic and rare diseases information center. In most cases, ollier disease is not inherited from a parent. Instead, the genetic mutations that are causing the symptoms of ollier disease occur during a persons lifetime somatic mutations and are only present in. Dec 12, 2016 ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous benign growths of cartilage that develop within the bones. Olliers disease ollier syndrome multiple enchondromatosis olliers syndrome ollier disease. Maffucci syndrome and olliers disease conference 2014 duration. Instead, the genetic mutations that are causing the symptoms of ollier disease occur during a persons lifetime somatic mutations and are only present in some cells of the body. Enchondromatosis, also known as ollier disease see terminology section, is a nonhereditary, sporadic, skeletal disorder characterised by multiple.
Summary the multiple enchondromatosis is a rare di. Abstract olliers disease is a multiple enchondromatose which constitutes 3% of benign bone tumors. Encondromatosis multiple familiar, diagnostico diferencial. This page was last edited on 23 october 2019, at 07. Ollier disease genetic and rare diseases information. Ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous benign growths of cartilage that develop within the. All structured data from the file and property namespaces is available under the creative commons cc0 license. Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors enchondroma develop close to growth plate cartilage. Files are available under licenses specified on their description page.
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