家族性巨颌症二家系临床病理分析

Clinicopathologic analysis and genetic investigation of two families with cherubism

目的探讨家族性巨颌症的遗传学及临床病理学特征。方法调查两个巨颌症家系,确定家系发病的树状图。对巨颌症患者进行临床资料及X线征象分析、组织学观察并随访。结果两个巨颌症家系均连续3代发病,家系A受累个体现存活2人,家系B受累3人,两个家系的先证者均诊断为巨颌症Ⅳ级,组织学上可见典型的多核巨细胞及嗜伊红血管套,部分病变活跃区可见明显的核分裂象,病变相对静止区可见疏松纤维组织和骨组织。结论经家系分析,巨颌症符合常染色体显性遗传规律,临床需要根据患者的家族史、临床表现、X线征象及组织病理学特点进行诊断。

Objective To study genetic feature, clinical and histopathological characteristic of two Chinese kindreds with cherubism （CBM）. Methods 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. Results 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. Conclusions Cherubism is caused by autosomal dominant inheritance. The diagnosis should be based on the genetic, clinical, radiological, and pathological aspects of the disease.