Mazabraud综合征

定义 英文原文（暂无中文）

Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.

别名

黏液瘤伴骨纤维异常增殖症

基本事实

遗传方式

不适用

发病年龄

成年期

患病率

<1 / 1 000 000

相关基因 1

临床表型 5

外部标识与链接