目的:探讨遗传性牙龈纤维瘤病(HGF)的临床表型和遗传学特点。方法:先证者法收集5个HGF家系并进行问卷和口腔检查,观察不同家系及同一家系不同个体的临床表型和发病特点,分析可能的遗传方式,绘制系谱图。结果:所有家系符合常染色体显性非综合征型HGF特征,发病年龄在牙齿萌出期,患者均有典型的牙龈增生,但不同个体其增生范围和严重程度有明显差异。龈切术可极大地恢复口腔功能和颜面外形,但部分病例在术后有复发倾向。结论:收集的5个家系均为非综合征型常染色体显性遗传HGF,且疾病外显率高,表现度变异大。 Objective: To investigate the clinical phenotype and genetic characteristics of hereditary gingivial fibromatosis (HGF). Methods: The probands collected five HGF pedigrees and conducted questionnaires and oral examinations. The clinical phenotypes and incidence characteristics of different families and different individuals in the same pedigree were observed. The possible genetic modes were analyzed and pedigrees were drawn. Results: All pedigrees were consistent with autosomal dominant non-syndromic HGF. The age of onset was typical of gingival hyperplasia during the period of eruption, but there were significant differences in the range and severity of hyperplasia in different individuals. Gingival resection can greatly restore oral function and facial appearance, but some cases have a tendency to recur after surgery. CONCLUSION: All the five pedigrees collected are non-syndromic autosomal dominant hereditary HGF with high penetrance and high variability of disease.