Cariati Paolo, Monsalve Iglesias Fernando, Fernández Solís José, Valencia Laseca Alfredo, Martinez Lara Ildefonso
Hospital Universitario Virgen de las Nieves, Granada, Spain.
Hospital Universitario Virgen de las Nieves, Granada, Spain.
Reumatol Clin. 2017 Nov-Dec;13(6):352-353. doi: 10.1016/j.reuma.2016.06.002. Epub 2016 Jul 11.
Cherubism is a rare disorder with autosomal dominant inheritance. It is classified as a benign fibro-osseous lesions and may involve either facial bone. Its typical dentofacial deformities are caused by mutations in the SH3BP2 gene. The protein encoded by SH3BP2 had a significant role in the regulation of osteoblasts and osteoclasts. Accordingly with the radiological findings, differential diagnoses includes fibrous dysplasia, giant cell granuloma, osteosarcoma, juvenile ossifying fibroma, fibrous osteoma, odontogenic cyst and hyperparathyroidism. The aim of the present report is twofold. First, we examine the importance of the proper management of these cases. Second, we describe this rare syndrome with the goal of proposing suitable treatments.
cherubism是一种罕见的常染色体显性遗传疾病。它被归类为良性纤维-骨病变，可能累及任何一侧面部骨骼。其典型的牙颌面畸形是由SH3BP2基因突变引起的。SH3BP2编码的蛋白质在成骨细胞和破骨细胞的调节中起重要作用。根据影像学表现，鉴别诊断包括骨纤维异常增殖症、巨细胞肉芽肿、骨肉瘤、青少年骨化性纤维瘤、骨纤维瘤、牙源性囊肿和甲状旁腺功能亢进症。本报告的目的有两个。第一，我们探讨妥善处理这些病例的重要性。第二，我们描述这种罕见综合征，目的是提出合适的治疗方法。
