Parikh Mishil, Puri Ajay, Guha Amrita, Khirwal Kavita, Gulia Ashish
Department of Musculoskeletal Oncology, Apollo Hospitals, Navi Mumbai, Maharashtra, India.
Department of Surgical Oncology, Bone and Soft Tissue Services, Tata Memorial Hospital, Mumbai, Maharashtra, India.
J Orthop Case Rep. 2020;10(2):80-83. doi: 10.13107/jocr.2020.v10.i02.1708.
Fibrous dysplasia (FD) is a benign intramedullary pathologic condition that is characterized by the replacement of bone with fibrous tissue. FD may be monostotic or polyostotic with the craniofacial bones, and the proximal femur is most commonly involved.
A 39-year-old lady presented to our hospital, a tertiary care center with asymmetric swelling of her arms, for over 20 years. Radiographs revealed gross enlargement with marrow expansion of the right humerus, scapula with ground-glass matrix, along with a multiseptated cystic appearance. Positron emission tomography-computed tomography screening for the activity of these lesions incidentally demonstrated a few lung nodules, which on biopsy was found to be atypical adenomatous hyperplasia. The lady also had endocrine dysfunction in the form of diabetes mellitus, for which she was on treatment.
In this article, we briefly review the available literature to decipher if any of the associated syndromes with polyostotic FD (being the dominant clinical feature) are known to have associations which explain the above findings. There is a need to recognize the underlying pattern so that appropriate genetic counseling, if any, can be provided to such patients.
骨纤维异常增殖症（FD）是一种良性骨髓内病理状况，其特征是骨组织被纤维组织替代。FD 可表现为单骨型或累及颅面骨的多骨型，最常累及股骨近端。
一名 39 岁女性因双臂不对称肿胀 20 多年就诊于我院（一家三级医疗中心）。X 光片显示右肱骨、肩胛骨明显增大且骨髓扩张，伴有磨玻璃样基质，以及多房性囊性外观。正电子发射断层扫描 - 计算机断层扫描对这些病变的活性进行筛查时偶然发现了一些肺结节，活检发现为非典型腺瘤样增生。该女性还患有糖尿病形式的内分泌功能障碍，正在接受治疗。
在本文中，我们简要回顾现有文献，以解读多骨型 FD（作为主要临床特征）的任何相关综合征是否已知存在可解释上述发现的关联。有必要识别潜在模式，以便为这类患者提供适当的遗传咨询（如有）。
