Wang Chang-ning, Song Ya-ling, Jiang Yong, Lu Dong-hui, Bian Zhuan
Key Laboratory for Oral Biomedical Engineering of Ministry of Education, School of Stomatology, Wuhan University, Wuhan 430079, China.
Zhonghua Kou Qiang Yi Xue Za Zhi. 2006 Jul;41(7):416-9.
To study genetic feature, clinical and histopathological characteristic of two Chinese kindreds with cherubism (CBM).
Two Chinese kindreds with CBM were investigated. The affected individuals of two families were analyzed with medical history, clinical manifestations, classified grading system, radiographic assessment, histopathological findings, and hereditary nature.
There were 2 individuals affected with CBM in family A and 3 patients involving three generations in family B. Two probands were diagnosed aggressive form cherubism and classified as grade IV. In histopathological findings, besides varying numbers of multinucleated giant cells in a stroma of fibroblasts and the eosinophilic cuffing surrounding some vessels, actively proliferating areas with clear mitoschisis and relative dormant areas with loose fibrous tissue and bone were also presented in microscopic fields of the lesion.
Cherubism is caused by autosomal dominant inheritance. The diagnosis should be based on the genetic, clinical, radiological, and pathological aspects of the disease.
研究两例中国家族性骨纤维异常增殖症（CBM）的遗传特征、临床及组织病理学特点。
对两例中国家族性CBM进行调查。对两个家族的患病个体进行病史、临床表现、分类分级系统、影像学评估、组织病理学检查及遗传特性分析。
A家族有2例CBM患者，B家族三代中有3例患者。两名先证者被诊断为侵袭性骨纤维异常增殖症，分类为IV级。在组织病理学检查中，除了在成纤维细胞基质中有数量不等的多核巨细胞以及一些血管周围有嗜酸性套袖外，病变的显微镜视野中还呈现出有明显核分裂的活跃增殖区域以及纤维组织和骨组织疏松的相对静止区域。
骨纤维异常增殖症由常染色体显性遗传引起。诊断应基于该疾病的遗传、临床、放射学及病理学方面。
