家族性巨大型牙骨质瘤患者各时期临床特点分析

Clinical features of patients with familial gigantiform cementoma

目的 :分析总结家族性巨大型牙骨质瘤患者各时期的临床特点。方法 :采集既往发现家系中患者的病史,不同阶段的临床表现、影像学和血液学等检查资料,并予归纳。结果:①发病初期患者开始出现颌骨病变但临床表现并不显著,影像学表现为X线透射的低密度灶,血清碱性磷酸酶略升高,骨密度较正常同龄人变化不明显;②迅速增长期上、下颌骨病灶加速生长,患者颜面外观和口腔功能受到严重影响,可伴发长骨骨折,病灶表现为高、低密度混合影像,血清碱性磷酸酶水平显著升高,骨密度明显降低;③生长停滞期上、下颌骨病灶大小不再有明显变化,病灶几乎全部由X线阻射影像组成,血清碱性磷酸酶恢复至正常水平,骨密度逐渐升高,并最终达到正常水平。结论:家族性巨大型牙骨质瘤患者在其病情进展的各时期均表现出典型的临床特点。根据这些特点,可以判断疾病的进程,有利于疾病的诊断和治疗方案的制订。

PURPOSE ： To summarize the clinical features of patients with familial gigantiform cementoma （FGC）. METHODS ： We performed a retrospective study in a series of 11 patients. The hematology indicators, as well as the clinical and radiographic findings in different stages were analyzed. RESULTS ： During initial onset, the lesions involved in the patients＇ jaws. CT scans showed multiple radiolucent swellings in the mandible and maxilla. The level of blood alkaline phosphatase was raised slightly. The bone mineral content was almost within normal limits. During rapid expansion, a marked enlargement of the masses with severe facial deformity and malocclusion was present. Patients always sustained multiple pathological long bone fractures. CT demonstrated multiple, expansile, mixed radiolucent-radiopaque masses in all four quadrants of their jaws. Patients had raised blood alkaline phosphatase and the bone mineral content decreased in this stage. During growth suppression phase, the lesions showed no apparent sign of increased expansion. CT scans revealed large radiolucent swellings. The blood alkaline phosphatase returned to normal range and the bone mineral content increased. CONCLUSIONS ： In different phases, patients with FGC have special clinical characteristics. These features are extremely helpful in assessing the growth potential of FGC, as well as in formulating the treatment strategies.