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非综合征性牙齿缺失患者的治疗策略：病例报告及文献复习。

Treatment strategy for patient with non-syndromic tooth agenesis: a case report and literature review.

机构信息

Department of Stomatology, Nanfang Hospital, Southern Medical University, 1838 N Guangzhou RD, Guangzhou, 510080, Guangdong, People's Republic of China.

出版信息

BMC Oral Health. 2024 Jul 25;24(1):840. doi: 10.1186/s12903-024-04613-y.

DOI:10.1186/s12903-024-04613-y
PMID:39048976
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11270777/
Abstract

BACKGROUND: Non-syndromic tooth agenesis (NSTA) is a type of ectodermal dysplasia (ED) in which patients with non-syndromic oligodontia may only affect teeth. No pathological findings were found in other tissues of the ectodermal. Herein, we report a case of a NSTA patient with severe dental anxiety and poor oral health. CASE PRESENTATION: A 5-year-old boy without systemic diseases presented as a patient with oligodontia, extensive caries, and periapical periodontitis. Molecular genetic analysis found a mutation in the Ectodysplasin A (EDA) gene, confirming the diagnosis of NSTA. CONCLUSION: Tooth agenesis (TA) is the most common ectodermal developmental abnormality in humans. Non-syndromic oligodontia patients often seek treatment in the department of stomatology. Because of their complex oral conditions, these patients should be provided with a systematic and personalized treatment plan.

摘要

背景：非综合征性牙齿缺失（NSTA）是一种外胚层发育不良（ED），其中非综合征性少牙症患者可能仅影响牙齿。在外胚层的其他组织中未发现病理发现。在此，我们报告了一例 NSTA 患者，其患有严重的牙齿焦虑和口腔健康不良。

病例介绍：一名 5 岁男孩无系统疾病，表现为少牙症、广泛龋齿和根尖周炎。分子遗传学分析发现 Ectodysplasin A（EDA）基因突变，确诊为 NSTA。

结论：牙齿缺失（TA）是人类最常见的外胚层发育异常。非综合征性少牙症患者通常在口腔科就诊。由于其复杂的口腔状况，应针对这些患者提供系统和个性化的治疗计划。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/a08cfcc43d5d/12903_2024_4613_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/c7ed668ed2fc/12903_2024_4613_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/22b2645bb303/12903_2024_4613_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/a3b8e3797349/12903_2024_4613_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/7c94c169b670/12903_2024_4613_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/a08cfcc43d5d/12903_2024_4613_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/c7ed668ed2fc/12903_2024_4613_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/22b2645bb303/12903_2024_4613_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/a3b8e3797349/12903_2024_4613_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/7c94c169b670/12903_2024_4613_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b7c/11270777/a08cfcc43d5d/12903_2024_4613_Fig5_HTML.jpg

相似文献

[1]
Treatment strategy for patient with non-syndromic tooth agenesis: a case report and literature review.

BMC Oral Health. 2024-7-25

[2]
Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

J Dent Res. 2013-4-19

[3]
KDF1 is a novel candidate gene of non-syndromic tooth agenesis.

Arch Oral Biol. 2018-10-23

[4]
[EDA mutation screening and phenotype analysis in patients with tooth agenesis].

Beijing Da Xue Xue Bao Yi Xue Ban. 2016-8-18

[5]
Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.

Hum Genet. 2024-11

[6]
A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.

Mol Genet Genomic Med. 2021-6

[7]
Novel missense mutation in the EDA gene in a family affected by oligodontia.

J Orofac Orthop. 2016-1

[8]
Oligodontia and curly hair occur with ectodysplasin-a mutations.

J Dent Res. 2014-1-31

[9]
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

Orphanet J Rare Dis. 2019-12-3

[10]
Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.

PLoS One. 2013-11-27

本文引用的文献

[1]
Congenital Tooth Agenesis and Risk of Early-Onset Cancer.

JAMA Netw Open. 2024-3-4

[2]
Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1.

Cureus. 2023-12-2

[3]
Rehabilitation with implant-supported overdentures in preteens patients with ectodermal dysplasia: A cohort study.

Clin Implant Dent Relat Res. 2023-12

[4]
The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective.

Front Genet. 2023-4-3

[5]
Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.

Clin Genet. 2022-12

[6]
Rehabilitation Considerations for Very Young Children with Severe Oligodontia due to Ectodermal Dysplasia: Report of Three Clinical Cases with a 2-Year Follow-Up.

Case Rep Dent. 2022-3-22

[7]
The long-term effect of dental treatment under general anaesthesia or physical restraints on children's dental anxiety and behaviour.

Eur J Paediatr Dent. 2022-3

[8]
Clinical outcomes of dental treatment under general anesthesia and its effects on the caries activity and body growth of children: a 2-year retrospective study.

Clin Oral Investig. 2022-5

[9]
Dimensional Changes in Dental Arches after Complete Dentures Rehabilitation of a Patient with Hypohidrotic Ectodermal Dysplasia: A Case Report with 18-Year Follow-Up.

J Clin Pediatr Dent. 2021-12-1

[10]
Evaluation of therapeutic effect and health economics of general anesthesia and routine outpatient dental treatment in children with severe early child caries.

Hua Xi Kou Qiang Yi Xue Za Zhi. 2021-12-1

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