摘要
Mazabraud综合征是一种非常罕见的散发性疾病。临床上以骨纤维结构不良(fibrous dysplasia,FD)和肌肉黏液瘤(intramuscular myxoma,IM)见于同一患者时被称为Mazabraud综合征。1926年,Henschen对此病首次进行了描述,1957年Mazabraud进一步描述二者相关性,并被命名为Mazabraud综合征[1]。目前为止报道不满80例[2]。
Objective To investigate clinicopathological characteristics of Mazabraud syndrome by reviewing the data of the first case of the Mazabraud syndrome in China with literature review. Methods We have analyzed the clinical data of a case of hospitalized Mazabraud syndrome patient to clearly diagnose with pathological examination. Result The patient was a 70-year-old male hospitalized for a lump in the left hip for more than half a month. The X-ray films of the pelvis, bilateral hip joints and bilateral upper femurs showed soap bubble-like appearance, which are typical findings of osteofibrous dysplasia. The CT scan of whole pelvis showed soap-bubble-like appearance of bilateral ilium, patial sacrum, acetabulum, pubis and ischium. There was a 3-cm-diameter cystic mass in left gluteus max imus muscle, of which CT value was 2- 7 Hu. Postoperative histopathological examination showed loose arrangement of fusiform fibrous tissue and immature fibrous bone, as well as irregular arrangement, English alphabet-shaped tenuity bone trabecula, which was surrounded by a few flat osteoblasts. This was amyxoma in the left gluteus max imus. Under microscope, the tumor showed clear boundary without capsule. There were much mucus-like substance and few cells. Cells were small, star-shaped and had no specificity. Conclusions Mazabraud syndrome is a rare disease, which is defined as fibrous dysplasia associated wish intramuscular myxoma. Development of Mazabraud syndrome may be related to the Gsa gene mutation. Pathology plays an important role in diagnosis of Mazabraud syndrome.
出处
《中国骨与关节杂志》
CAS
2016年第3期237-239,共3页
Chinese Journal of Bone and Joint