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牙本质发育异常:诊断挑战

Dentin dysplasia: diagnostic challenges.

作者信息

Alhilou Ahmed, Beddis Hannah P, Mighell Alan J, Durey Kathryn

机构信息

Restorative Dentistry, Leeds Dental Institute, Leeds, West Yorkshire, UK.

Oral Medicine, Leeds Dental Institute, Leeds, Leeds, UK.

出版信息

BMJ Case Rep. 2018 Jun 11;2018:bcr-2017-223942. doi: 10.1136/bcr-2017-223942.

DOI:10.1136/bcr-2017-223942
PMID:29895546
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6011466/
Abstract

Dentin dysplasia(DD) is a rare autosomal dominant disorder associated with disturbance of the dentin. While the crowns appear clinically normal, on radiography, the pulp spaces appear partially or completely obliterated, with short blunted roots, and multiple periapical radiolucencies affecting the apparently sound teeth. Clinical signs include spontaneous abscess formation or increased tooth mobility which can lead to exfoliation. DD can therefore have a significant impact on the patient's dentition, and treatment is often challenging. Shields' classification of dentin disorders has been recently criticised for failing to consider differential variations and expressions of these disorders. This paper describes a case of a 23-year-old woman with previously undiagnosed DD, who presented with clinical and histological features belonging to several of these diseases, thus highlighting the potential diagnostic challenges faced with Shields' classification.

摘要

牙本质发育异常(DD)是一种罕见的常染色体显性疾病,与牙本质紊乱有关。虽然临床上牙冠看起来正常,但在X线片上,牙髓腔部分或完全闭塞,牙根短而钝,多个根尖周透射区影响看似健康的牙齿。临床症状包括自发脓肿形成或牙齿松动增加,这可能导致牙齿脱落。因此,DD会对患者的牙列产生重大影响,治疗往往具有挑战性。希尔兹对牙本质疾病的分类最近受到批评,因为它没有考虑到这些疾病的差异变化和表现。本文描述了一例23岁此前未被诊断出患有DD的女性病例,该患者表现出属于其中几种疾病的临床和组织学特征,从而突出了希尔兹分类法面临的潜在诊断挑战。

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Dentin dysplasia: diagnostic challenges.牙本质发育异常:诊断挑战
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Type I Dentin Dysplasia: The Literature Review and Case Report of a Family Affected by Misrecognition and Late Diagnosis.Ⅰ型牙本质发育不全:一份受误诊和延迟诊断影响的家族病例报告及文献综述
Medicina (Kaunas). 2023 Aug 17;59(8):1477. doi: 10.3390/medicina59081477.
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Guided endodontic treatment of multiple teeth with dentin dysplasia: a case report.多颗牙牙本质发育不良的根管导向治疗:病例报告。
Head Face Med. 2020 Nov 17;16(1):27. doi: 10.1186/s13005-020-00240-4.

本文引用的文献

1
Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta.遗传性牙本质发育异常:成骨不全背景下的术语
Br Dent J. 2016 Dec 9;221(11):727-730. doi: 10.1038/sj.bdj.2016.915.
2
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.SSUH2基因突变导致I型常染色体显性遗传性牙本质发育不全。
Hum Mutat. 2017 Jan;38(1):95-104. doi: 10.1002/humu.23130. Epub 2016 Oct 19.
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A splicing mutation in VPS4B causes dentin dysplasia I.VPS4B中的剪接突变导致牙本质发育不全I型。
J Med Genet. 2016 Sep;53(9):624-33. doi: 10.1136/jmedgenet-2015-103619. Epub 2016 May 31.
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Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.孤立性牙本质发育不全和牙本质发育异常:分类修订
Eur J Hum Genet. 2015 Apr;23(4):445-51. doi: 10.1038/ejhg.2014.159. Epub 2014 Aug 13.
5
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.单体型分析和候选基因优先级分析发现了 SMOC2 中的突变,这些突变通过全外显子测序被遗漏,导致主要的牙齿发育缺陷。
Am J Hum Genet. 2011 Dec 9;89(6):773-81. doi: 10.1016/j.ajhg.2011.11.002.
6
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.重叠的DSPP突变导致牙本质发育异常和牙本质形成不全。
J Dent Res. 2008 Dec;87(12):1108-11. doi: 10.1177/154405910808701217.
7
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.遗传性牙本质疾病:牙本质发育不全和牙本质发育异常。
Orphanet J Rare Dis. 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31.
8
Hereditary dentin defects.遗传性牙本质缺陷
J Dent Res. 2007 May;86(5):392-9. doi: 10.1177/154405910708600502.
9
Molecular basis of human dentin diseases.人类牙本质疾病的分子基础。
Am J Med Genet A. 2006 Dec 1;140(23):2536-46. doi: 10.1002/ajmg.a.31359.
10
Endodontic therapy on a dentition exhibiting multiple periapical radiolucencies associated with dentinal dysplasia Type 1.对患有与牙本质发育不全1型相关的多个根尖周透射区的牙列进行牙髓治疗。
Aust Endod J. 2006 Apr;32(1):40-2. doi: 10.1111/j.1747-4477.2006.00008.x.