Manevska Nevena, Todorova-Stefanovski Dushica, Kocev Smiljana Bundovska, Stojanoski Sinisha, Makazlieva Tanja
Ss. Cyril and Methodius University, Faculty of Medicine, Institute of Pathophisiology and Nuclear Medicine, Skopje, Macedonia.
University Institute for Positron Emission Tomography, Skopje, Macedonia.
Mol Imaging Radionucl Ther. 2023 Jun 20;32(2):186-190. doi: 10.4274/mirt.galenos.2023.79095.
Fibrous dysplasia (FD) is a rare congenital benign bone disease that manifests as a defect in the bone remodeling process, affecting the function, differentiation, and maturation of osteoblasts. This process is located in the bone marrow, where the normal marrow tissue is replaced with immature bone islands and fibrous stroma. The etiology is unclear so far, but it is known to be connected with a point mutation of the gene that encodes Gs α protein at the time of embryogenesis, and because of that, all of the affected somatic cells become dysplastic. It is important to determine whether the mutation occurred earlier in the process of embryogenesis so that there will be more mutant cells and the disease will appear in a more severe form. The clinical presentation of FD is variable, so there are plenty of potential differential diagnoses. The most common include Paget disease, non-ossifying fibroma, osteofibrous dysplasia, aneurysmal bone cyst, adamantinoma, giant cell tumor, fracture callus, and low-grade central osteosarcoma.
骨纤维异常增殖症（FD）是一种罕见的先天性良性骨病，表现为骨重塑过程中的缺陷，影响成骨细胞的功能、分化和成熟。这个过程发生在骨髓中，正常的骨髓组织被不成熟的骨岛和纤维基质所取代。目前病因尚不清楚，但已知与胚胎发育时编码Gsα蛋白的基因点突变有关，因此，所有受影响的体细胞都会发育异常。确定突变是否在胚胎发育过程中更早发生很重要，这样会有更多的突变细胞，疾病也会以更严重的形式出现。FD的临床表现多种多样，因此有许多潜在的鉴别诊断。最常见的包括佩吉特病、非骨化性纤维瘤、骨化性纤维发育不良、动脉瘤样骨囊肿、造釉细胞瘤、巨细胞瘤、骨折骨痂和低度中央型骨肉瘤。
