系统性疾病伴有的牙本质发育不良表型分析

口腔生物医学 ›› 2023, Vol. 14 ›› Issue (1): 19-22.

系统性疾病伴有的牙本质发育不良表型分析

朱玉龙¹,苏桐宇¹,王祥璞¹,段小红²,^3*

1. 第四军医大学第三附属医院
2. 军事口腔国家重点实验室第四军医大学口腔医院
3. 军事口腔医学国家重点实验室，国家口腔疾病临床医学研究中心，陕西省口腔医学重点实验室，空军军医大学第三附属医院口腔生物学教研室，口腔罕见病与遗传病门诊

收稿日期:2023-01-03 修回日期:2023-02-15 出版日期:2023-03-25 发布日期:2023-03-29
通讯作者: 段小红 E-mail:xhduan@fmmu.edu.cn
基金资助:
国家自然科学基金

Phenotype analysis on systemic diseases with dentin dysplasia

1. School of Stomatology, the Fourth Military Medical University
2. State Key Laboratory of Military Stomatology; National Clinical Research Center for Oral Diseases; Shaanxi Key Laboratory of Stomatology, Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, The Third Affiliated Hospital of Air Force Military Medical University
3.

Received:2023-01-03 Revised:2023-02-15 Online:2023-03-25 Published:2023-03-29

摘要/Abstract

摘要： 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。

Abstract: 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.

朱玉龙苏桐宇王祥璞段小红. 系统性疾病伴有的牙本质发育不良表型分析[J]. 口腔生物医学, 2023, 14(1): 19-22.

参考文献 18

[1]	Duan XH.[The first edition of oral rare diseases list][J].Zhonghua Kou Qiang Yi Xue Za Zhi,2020,55(7):494-500.
[2]	Kalk WW,Batenburg RH,Vissink A.Dentin dysplasia type I: five cases within one family[J].Oral Surg Oral Med Oral Pathol Oral Radiol Endod,1998,86(2):175-178.
[3]	Shields ED,Bixler D,el-Kafrawy AM.A proposed classification for heritable human dentine defects with a description of a new entity[J].Arch Oral Biol,1973,18(4):543-553.
[4]	de La Dure-Molla M,Philippe Fournier B,Berdal A.Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification[J].Eur J Hum Genet,2015,23(4):445-451.
[5]	Vieira AR,Lee M,Vairo F, et al.Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)[J].Oral Surg Oral Med Oral Pathol Oral Radiol,2015,120(6):e235-239.
[6]	Favia G,Lacaita MG,Limongelli L, et al.Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features[J].Am J Case Rep,2014,15:569-575.
[7]	Lee AE,Chu EY,Gardner PJ, et al.A Cross-Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis[J].JBMR Plus,2021,5(5):e10470.
[8]	Kapferer-Seebacher I,Schnabl D,Zschocke J, et al.Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review[J].Acta Derm Venereol,2020,100(7):adv00092.
[9]	Ferré FC,Frank M,Gogly B, et al.Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study[J].BMJ Open,2012,2(2):e000705.
[10]	De Coster PJ,Martens LC,De Paepe A.Oral health in prevalent types of Ehlers-Danlos syndromes[J].J Oral Pathol Med,2005,34(5):298-307.
[11]	Liu AQ,Zhang LS,Guo H, et al.Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I: A case report[J].Medicine (Baltimore),2020,99(41):e22508.
[12]	Chhonkar A,Gupta A,Chaudhary P, et al.Oral Rehabilitation of a Pediatric Patient with Vitamin D-dependent Rickets II: A Rare Case Report[J].Int J Clin Pediatr Dent,2019,12(1):73-75.
[13]	Villa-Suárez JM,García-Fontana C,Andújar-Vera F, et al.Hypophosphatasia: A Unique Disorder of Bone Mineralization[J].Int J Mol Sci,2021,22(9).
[14]	Sabandal MM,Robotta P,Bürklein S, et al.Review of the dental implications of X-linked hypophosphataemic rickets (XLHR)[J].Clin Oral Investig,2015,19(4):759-768.
[15]	Yuan M,Zheng X,Xue Y, et al.A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies[J].Oral Dis,2022.
[16]	Li Q,Lu F,Chen T, et al.VPS4B mutation impairs the osteogenic differentiation of dental follicle cells derived from a patient with dentin dysplasia type I[J].Int J Oral Sci,2020,12(1):22.
[17]	Xiong F,Ji Z,Liu Y, et al.Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I[J].Hum Mutat,2017,38(1):95-104.
[18]	Ruan W,Duan X.A new SMOC2 mutation within selective tooth agenesis, malformed teeth and dentin dysplasia[J].Clin Genet,2022,102(4):352-354.