Suppr超能文献

应对复杂性:一例关于牙釉质发育不全和牙龈纤维瘤病综合征综合牙科管理方法的病例报告

Navigating Complexity: A Case Report on a Comprehensive Dental Management Approach to Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome.

作者信息

Nasrallah Hitaf, Berro Khetam

机构信息

Department of Pediatric Dentistry, Lebanese University Faculty of Dental Medicine, Beirut, LBN.

出版信息

Cureus. 2024 Feb 7;16(2):e53787. doi: 10.7759/cureus.53787. eCollection 2024 Feb.

Abstract

This clinical case report details the comprehensive diagnosis and dental management of a seven-year-old female patient diagnosed with the rare genetic disorder, amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS). The case initially presented as congenital adrenal hyperplasia and amelogenesis imperfecta, but further genetic analysis revealed the involvement of AIGFS due to a mutation in the gene. Diagnosis, confirmed through whole exome sequencing, clinical assessment, and laboratory tests, necessitated a multidisciplinary approach to address the treatment of such cases. The article underscores the critical importance of diagnosing and managing dental manifestations in pediatric patients with complex genetic conditions, highlighting the difficulties of treating AIGFS in mixed dentition. This case also highlights the indispensable role of pediatric dentists in diagnosing and treating these cases, ultimately improving the quality of life for individuals with AIGFS.

摘要

本临床病例报告详细介绍了一名七岁女性患者的综合诊断和牙科治疗情况,该患者被诊断患有罕见的遗传性疾病——牙釉质发育不全和牙龈纤维瘤病综合征(AIGFS)。该病例最初表现为先天性肾上腺增生和牙釉质发育不全,但进一步的基因分析显示,由于基因发生突变,该病例涉及AIGFS。通过全外显子组测序、临床评估和实验室检查确诊后,需要采用多学科方法来处理此类病例的治疗。本文强调了在患有复杂遗传疾病的儿科患者中诊断和管理牙齿表现的至关重要性,突出了在混合牙列期治疗AIGFS的困难。该病例还凸显了儿科牙医在诊断和治疗这些病例中不可或缺的作用,最终改善了AIGFS患者的生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09fb/10923614/148d82163ac5/cureus-0016-00000053787-i01.jpg

相似文献

3
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
Orphanet J Rare Dis. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84.
4
FAM20A mutations can cause enamel-renal syndrome (ERS).
PLoS Genet. 2013;9(2):e1003302. doi: 10.1371/journal.pgen.1003302. Epub 2013 Feb 28.
5
Enamel-renal-gingival syndrome and FAM20A mutations.
Am J Med Genet A. 2014 Jan;164A(1):1-9. doi: 10.1002/ajmg.a.36187. Epub 2013 Nov 20.
6
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.
Nephron. 2018;139(2):189-196. doi: 10.1159/000486607. Epub 2018 Feb 13.
7
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.
Eur J Med Genet. 2020 Nov;63(11):104045. doi: 10.1016/j.ejmg.2020.104045. Epub 2020 Aug 22.
9
Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.
Imaging Sci Dent. 2015 Sep;45(3):181-5. doi: 10.5624/isd.2015.45.3.181. Epub 2015 Sep 9.
10
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
Am J Hum Genet. 2011 May 13;88(5):616-20. doi: 10.1016/j.ajhg.2011.04.005. Epub 2011 May 5.

本文引用的文献

1
Management of Amelogenesis Imperfecta in Childhood: Two Case Reports.
Int J Environ Res Public Health. 2021 Jul 5;18(13):7204. doi: 10.3390/ijerph18137204.
2
Digital versus conventional impression method in children: Comfort, preference and time.
Int J Paediatr Dent. 2019 Nov;29(6):728-735. doi: 10.1111/ipd.12566. Epub 2019 Aug 13.
3
Amelogenesis imperfecta: therapeutic strategy from primary to permanent dentition across case reports.
BMC Oral Health. 2018 Jun 15;18(1):108. doi: 10.1186/s12903-018-0554-y.
4
Effect of enamel morphology on nanoscale adhesion forces of streptococcal bacteria : An AFM study.
Scanning. 2015 Sep-Oct;37(5):313-21. doi: 10.1002/sca.21218. Epub 2015 Apr 24.
6
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
Orphanet J Rare Dis. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84.
7
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
Hum Mutat. 2012 Jan;33(1):91-4. doi: 10.1002/humu.21621. Epub 2011 Oct 31.
8
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
Am J Hum Genet. 2011 May 13;88(5):616-20. doi: 10.1016/j.ajhg.2011.04.005. Epub 2011 May 5.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验