系统性疾病伴有的牙本质发育不良表型分析

Phenotype analysis on systemic diseases with dentin dysplasia

目的:以伴随牙本质发育异常的系统性疾病为研究目标,对其伴有的牙本质发育不良(DD)表型进行归纳分析,补充其表型研究。方法:通过口腔罕见病名录以及PubMed数据库寻找相关疾病的已报道病例,对其牙本质相关的表型进行统计和分析。结果:截止2021年12月31日,共搜索到59个伴随DD的系统性疾病病例,分属高血磷症型家族性类肿瘤钙质沉积综合征(HFTC)和Ehlers-Danlos综合征(EDS),这些病例除相应的全身各个系统症状外,其牙本质异常表现为不同程度的髓腔体积缩小(55.9%)、牙髓钙化(50.8%)和牙根发育不良(35.6%)等类似DD的表型,但部分患牙的牙根特征与经典DD不尽相同,18.6%出现牙根变长,此外还有8.5%产生牙齿变色。结论:伴随牙本质异常的系统性疾病常具有特征性的DD表现,其表现可能典型或者非典型,均可作为鉴别此类疾病的一项重要指标。

Objective:With systemic diseases accompanied by dentin abnormalities as the objective of this study,to generalize the phenotypes of dentin dysplasia(DD)and to complement the phenotypes of syndromic DD.Methods:The first edition of oral diseases list and PubMed database were searched for the reported cases.Then the dentin-related phenotypes were counted and analyzed.Results:By the end of the year 2021,a total of 59 cases of systemic diseases with DD were searched in hyperphosphatemic familial tumoral calcinosis(HFTC)and Ehlers-Danlos syndrome(EDS).In these cases,beside the corresponding systemic symptoms,the phenotypes of dentin abnormalities were pulp volume reduction(55.9%),pulp calcification(50.8%)and root dysplasia(35.6%),which were similar to the phenotypes of DD.However,some dentin abnormalities were different from typical DD,such as tooth discoloration(8.5%)and root elongation(18.6%).Conclusions:Systemic diseases with dentin abnormalities often have characteristic DD,typical or atypical.Dentin abnormalities can serve as an important indicator.