Biazzo Alessio, Di Bernardo Andrea, Parafioriti Antonina, Confalonieri Norberto
Gaetano Pini-CTO, Milano.
Acta Biomed. 2017 Aug 23;88(2):198-200. doi: 10.23750/abm.v88i2.5256.
Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. We report the case of a 28-year-old girl with Mazabraud syndrome associated with McCune-Albright syndrome. Our literature review shows that in these patients there is a higher risk of malignant transformation of fibrous dysplasia into osteosarcoma, confirming previous reports. Conversely, no malignant transformation has been reported for myxomas in isolated Mazabraud syndrome or in the association with McCune-Albright syndrome. We conclude that these patients should be scheduled to a close and long-term follow-up.
马扎布劳德综合征是一种非常罕见的良性疾病，其特征为单发性或多发性骨纤维发育不良与一个或多个肌内黏液瘤并存。麦库恩-奥尔布赖特综合征是一种罕见的良性疾病，其特征为多发性骨纤维发育不良、咖啡牛奶斑皮肤色素沉着和内分泌功能障碍，如性早熟、糖尿病、甲状腺肿和乳腺纤维腺瘤病。同一患者同时患有马扎布劳德综合征和麦库恩-奥尔布赖特综合征是一个罕见事件。我们报告了一例28岁患有马扎布劳德综合征合并麦库恩-奥尔布赖特综合征的女孩病例。我们的文献综述表明，这些患者的骨纤维发育不良恶变为骨肉瘤的风险更高，这证实了先前的报道。相反，在孤立的马扎布劳德综合征或与麦库恩-奥尔布赖特综合征并存的情况下，尚未有黏液瘤发生恶变的报道。我们得出结论，这些患者应安排密切的长期随访。
