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. This is the second case reported in the literature of welldifferentiated chondrosarcoma arising in maffucci s syndrome with immunohistochemical studies. Maffucci syndrome manifests early in life, usually around age 45 years, with 25% of cases being congenital. This is the second case reported in the literature of welldifferentiated chondrosarcoma arising in maffuccis syndrome with immunohistochemical studies. It is important to make the distinction between these diseases, particularly ollier disease and maffucci syndrome. Maffucci s syndrome complicated by intracranial chondrosarcoma. Maffucci s syndrome is a congenital nonfamilial syndrome combining dyschondroplasia, enchondromatosis and hemangiomatosis. Enchondromas have a potential for malignant transformation and cause bone deformation, shortening, and fractures, while hemangiomas may cause severe bleeding. Pdf enchondromas are common intraosseous, usually benign cartilaginous tumors, that. Board index free unlimited pdf downloads free downloads. Definizione di maffucci sindrome di discondroplasia con emangiomi. Maffuccis syndrome is a congenital nonfamilial syndrome combining dyschondroplasia, enchondromatosis and hemangiomatosis. Maffucci syndrome is a rare congenital nonhereditary disease consisting of the development of multiple enchondromas, hemangiomas and, less commonly, lymphangiomas. Aiuta gli altri rispondendo alle 25 domande frequenti riguardo sindrome di maffucci.
Malignant transformation of mesenchymatous and nonmesenchymatous tumors has been reported more frequently in maffuccis syndrome than in olliers disease 4, 7, 9, 14, 23, 26. Omim entry % 614569 multiple enchondromatosis, maffucci type. Conceicaoi ntroducao conhecer o desenvolvimento do sistema. Wed like to understand how you use our websites in order to improve them. Anomalias vasculares superficiales pdf free download.
About 160 cases of maffucci syndrome have been published in the english literature. The lifespan is normal in the absence of severe complications. Maffucci s syndrome complicated by intracranial mafiadoc. Over the past 20 years, four patients have been admitted with signs and symptoms consistent with maffuccis syndrome. Franck sharko vol 01 le livros baixar livros em pdf, epub. Until now both ollier disease and maffucci syndrome have only occurred in isolated. Jun 07, 2017 maffucci syndrome is a rare genetic disorder that affects both males and females. Marche des maladies rares alliance maladies rares december julho 20142009.
Le 25 domande piu frequenti di sindrome di maffucci mappa. Diventa ambasciatore doro rispondendo a queste domande. Eziologia leziologia della sindrome di maffucci non e del tutto nota. It is associated with heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 idh1idh2 genes. Malignant transformation of mesenchymatous and nonmesenchymatous tumors has been reported more frequently in maffucci s syndrome than in olliers disease 4, 7, 9, 14, 23, 26. Ollier disease, maffucci syndrome, and metachondromatosis. Maffuccis syndrome is a congenital nonfamilial syndrome combining. Maffucci syndrome is associated with a higher risk of cns, pancreatic, and ovarian malignancies. Patients apparently are of average intelligence, and no associated mental or psychiatric abnormalities seem to be present. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for maffucci syndrome. Franck sharko vol 01 le livros baixar livros em pdf.
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