Ollier disease atlas of genetics and cytogenetics in oncology and haematology. Maffucci syndrome and ollier s disease conference 2014 duration. Currently, there are no forms of treatment for the underlying condition of ollier disease but. Ollier disease enchondromatosis maffucci syndrome chondrosarcoma.
Enchondromatosis ollier disease, maffucci syndrome is not caused by the pthr1 mutation. Olliers disease characterized by multiple skeletal enchondroma is a rare disease of unknown etiology and the diagnosis is based on radiographs. The cause of ollier disease is not completely understood. Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign. Presentation of a family with multiple family enchondromatosis. Seventeen cases of ollier disease were treated between 1976 and 2006. A related and even rarer disorder named maffucci syndrome is a very similar condition that is. Ollier disease genetic and rare diseases information. Pdf the multiple enchondromatosis is a rare disease with some. Typically, ollier disease is caused by mutations in one of three genes pth1r, idh1, or idh2. Anteroposterior radiograph of the pelvis showing osteolitic lesions in the. We include 16 cases of olliers and 1 of maffuccis syndrome. The median age at diagnosis for patients having malignant transformation was 45 years, whereas. Ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous benign growths of cartilage that develop within the.
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