Professor and Head, Department of Oral Medicine and Radiology, Maulana Azad Institute of Dental Sciences, New Delhi, India.
Senior Research Associate, Department of Oral Medicine and Radiology, Maulana Azad Institute of Dental Sciences, New Delhi, India.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2019 Nov;128(5):e191-e201. doi: 10.1016/j.oooo.2019.01.082. Epub 2019 Feb 7.
Cherubism is a rare autosomal dominant disorder characterized by replacement of bone with fibrous tissue containing multinucleated giant cells. It manifests as bilateral mandibular and/or maxillary enlargement. The 2017 World Health Organization classification lists cherubism as a giant cell lesion of the jaws, distinct from fibro-osseous disorders. We discuss 3 cases of familial cherubism having aggressive characteristics and present clinicoradiologic evaluations of the lesions over 12, 18, and 1.5 years, respectively. Follow-up was observational, without active intervention. Analysis of the lesions for change in size and functional impairments was correlated with periodic imaging. All patients are currently being monitored. The outcome in 2 cases has been excellent without intervention, but 1 case had extensive involvement of the jaws and involvement of the condyle and orbit. A secondary giant cell lesion involved the palate in one patient's mother, who had had cherubic lesions in childhood.
cherubism 是一种罕见的常染色体显性遗传病，其特征是骨组织被纤维组织取代，其中含有多核巨细胞。该病表现为双侧下颌骨和/或上颌骨增大。2017 年世界卫生组织分类将 cherubism 列为颌骨的巨细胞病变，与纤维骨性疾病不同。我们讨论了 3 例具有侵袭性特征的家族性 cherubism 病例，并分别对病变进行了 12、18 和 1.5 年的临床影像学评估。随访为观察性的，没有进行积极的干预。对病变大小和功能障碍的分析与定期影像学检查相关。目前所有患者都在接受监测。在没有干预的情况下，2 例患者的结果非常好，但 1 例患者的颌骨广泛受累，并累及髁突和眼眶。1 例患者的母亲患有 cherubism 样病变，其腭部出现了继发的巨细胞病变。
