PDF(Sci-hub)
Abstract：
Fibrous Dysplasia is a benign fibro-osseous lesion occurring throughout the skeletal system with a predilection for craniofacial bones, long bones, and ribs. Fibrous dysplasia develops during bone formation and growth with a variable natural evolution. It is considered a genetic nonheritable disease resulting from missense mutations that occur postzygotically in the GNAS1 gene. This mutation leads to a focal congenital failure of proper bone formation and arrest at the woven bone stage. In turn, this leads to a decreased mechanical strength, causing bone pain, pathological fractures, and skeletal deformities. Besides clinical examination, fibrous dysplasia is diagnosed based on the results of radiographic imaging and the microscopic histopathological findings. On CT scan, fibrous dysplasia shows the characteristic \"Ground-glass\" appearance with well-defined borders. On MRI, fibrous dysplasia has a low signal intensity on T1-weighted MRI and variable signal intensity on T2-weighted MRI. We hereby report a case of an unusual presentation of fibrous dysplasia in a 67-year-old female presenting to the emergency department with generalized malaise and lower limb pain. Fibrous dysplasia may present in the elderly population and can be difficult to differentiate from other malignant and benign lesions affecting the skeletal system.
摘要：
纤维发育不良是一种良性的纤维骨病变，发生在整个骨骼系统中，对颅面骨骼有好感。长骨,和肋骨。纤维发育不良在骨形成和生长过程中发展，具有可变的自然进化。它被认为是一种遗传性非遗传性疾病，是由GNAS1基因合子后发生的错义突变引起的。这种突变导致正常骨形成的局灶性先天性失败，并在编织骨阶段停滞。反过来,这导致机械强度下降，导致骨痛，病理性骨折,和骨骼畸形。除了临床检查，纤维发育不良的诊断是基于X线影像的结果和显微组织病理学发现。在CT扫描中,纤维发育不良表现出特征性的“毛玻璃”外观，边界明确。核磁共振成像,纤维发育不良在T1加权MRI上的信号强度较低，在T2加权MRI上的信号强度可变。我们在此报告一例，一名67岁的女性因全身不适和下肢疼痛到急诊科就诊，异常表现为纤维发育不良。纤维发育不良可能存在于老年人群中，并且可能难以与影响骨骼系统的其他恶性和良性病变区分开。
