Sindrome de maffucci pdf

Enchondromas have a potential for malignant transformation and cause bone deformation, shortening, and fractures, while hemangiomas may cause severe bleeding. Maffucci syndrome nord national organization for rare. Enchondromas arise in bones, most frequently in the hands and feet, and less often in the legs and long bones of the arm. It is associated with heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 idh1idh2 genes. Maffuccis syndrome is a congenital nonfamilial syndrome combining dyschondroplasia, enchondromatosis and hemangiomatosis. The lifespan is normal in the absence of severe complications.

John hunter is a professor in the department of radiology musculoskeletal section at uc davis school of medicine. It is characterized by multiple enchondromas, which are noncancerous benign growths of cartilage that develop within the bones. Maffucci s syndrome complicated by intracranial chondrosarcoma two new illustrative cases leandro infantini dini1, gustavo rassier isolan2, glauco andre saraiva3, simone afonso dini4, pasquale gallo5 abstract maffuccis syndrome is a rare congenital condition, sometimes misdiagnosed as olliers dis. Ollier disease, maffucci syndrome, and metachondromatosis. Maffucci syndrome is an extremely rare disorder characterized by benign overgrowths of cartilage enchondromas, skeletal deformities and cutaneous lesions composed of abnormal blood vessels. Maffucci s syndrome complicated by intracranial chondrosarcoma. The abnormal growths associated with maffucci syndrome may become cancerous malignant. Maffucci syndrome is a rare genetic disorder that affects both males and females. Jun 07, 2017 maffucci syndrome is a rare genetic disorder that affects both males and females. Maffucci syndrome is a disorder that primarily affects the bones and skin.

A concomitancia com neoplasias primarias tem sido relatada esporadicamente. Over the past 20 years, four patients have been admitted with signs and symptoms consistent with maffuccis syndrome. Maffucci syndrome is a rare congenital nonhereditary disease consisting of the development of multiple enchondromas, hemangiomas and, less commonly, lymphangiomas. It is important to make the distinction between these diseases, particularly ollier disease and maffucci syndrome. Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with softtissue venous malformations hemangiomas on imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grotesque, and soft tissue masses with phleboliths depicting hemangiomas. Maffucci syndrome genetic and rare diseases information. Maffucci s syndrome complicated by intracranial mafiadoc. Omim entry % 614569 multiple enchondromatosis, maffucci type.