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Maffucci syndrome with unilateral limb: a case report and review of the literature 被引量:6

Maffucci syndrome with unilateral limb: a case report and review of the literature
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摘要 Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities, which is exceedingly rare. We report a case of hemangiomas and enchondromas localized in the unilateral limb in a patient with Maffucci syndrome. Treatment consists of orthopedic and surgical intervention to minimize deformities and for cosmetic purpose. Careful surveillance for malignant degeneration of both skeletal and non-skeletal tumors, especially in the brain and abdomen, is essential. Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities, which is exceedingly rare. We report a case of hemangiomas and enchondromas localized in the unilateral limb in a patient with Maffucci syndrome. Treatment consists of orthopedic and surgical intervention to minimize deformities and for cosmetic purpose. Careful surveillance for malignant degeneration of both skeletal and non-skeletal tumors, especially in the brain and abdomen, is essential.
出处 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2013年第2期254-258,共5页 中国癌症研究(英文版)
关键词 Maffucci syndrome ENCHONDROMATOSIS HEMANGIOMAS unilateteral limb Maffucci syndrome enchondromatosis hemangiomas unilateteral limb
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参考文献8

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  • 2Garzon MC, HuangJrl, Enjolras O, et al. Vascular malformations. Part II: associated syndromes. J Am Acad Dermatol 2007;56:541-64.
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  • 5Amary MF, Damato S, Halai D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations oflDH1 and IDH2. Nat Genet 2011 ;43:1262-5.
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