Tsodoulos Spyridon, Ilia Anastasia, Antoniades Konstantinos, Angelopoulos Christos
Associate Professor, Department of Oral and Maxillofacial Surgery, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Dentist, Aristotle University of Thessaloniki, Thessaloniki, Greece.
J Oral Maxillofac Surg. 2014 Feb;72(2):405.e1-9. doi: 10.1016/j.joms.2013.10.001. Epub 2013 Oct 9.
Cherubism is a rare, non-neoplastic pathologic entity first described by Jones in 1933. It affects mostly younger individuals and is usually inherited. Cherubism presents as a painless jaw enlargement that affects both the maxilla and the mandible and is characterized by replacement of the osseous tissue by fibrous connective tissue. Radiologically, the lesions appear as multiple, multilocular radiolucent spaces with distinct borders divided by bony septations, which often dramatically alter the shape and size of the jaw structures. These often result in marked facial abnormalities. Cervical lymphadenopathy is not uncommon in those affected. The disease is self-limited and can reverse itself with time. Approximately 250 cases have been reported in published studies, mostly affecting males. The purpose of our report was to present a case of cherubism diagnosed in a young girl and the long-term (3 generations) follow-up evaluation of her mother and grandmother, both of whom had been diagnosed with the same pathologic entity.
家族性颌骨纤维异常增殖症是一种罕见的非肿瘤性病理实体，由琼斯于1933年首次描述。它主要影响年轻人，通常具有遗传性。家族性颌骨纤维异常增殖症表现为无痛性颌骨肿大，累及上颌骨和下颌骨，其特征是骨组织被纤维结缔组织替代。在放射学上，病变表现为多个多房性透光区，边界清晰，由骨间隔分隔，这常常显著改变颌骨结构的形状和大小。这些通常会导致明显的面部异常。颈部淋巴结病在患者中并不少见。这种疾病是自限性的，会随着时间自行缓解。已发表的研究报告了约250例病例，大多影响男性。我们报告的目的是介绍一名年轻女孩被诊断为家族性颌骨纤维异常增殖症的病例，以及对她的母亲和祖母进行的长期（三代）随访评估，她们两人都被诊断患有相同的病理实体。
