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牙周埃勒斯-当洛综合征中的多灶性根尖周牙骨质发育异常合并c.890G＞a、G297D突变的白质脑病[牙周埃勒斯-当洛综合征]

Multifocal periapical cemental dysplasia in periodontal Ehlers-Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS].

作者信息

Nilius Manfred, Nilius Minou Helene, Müller Charlotte, Lauer Guenter, Berit Koch, Marcus Kohlhaas

机构信息

Niliusklinik Dortmund Germany.

Department of Oral and Maxillofacial Surgery University Hospital "Carl Gustav Carus", Technische Universität Dresden Dresden Germany.

出版信息

Clin Case Rep. 2022 Nov 4;10(11):e6490. doi: 10.1002/ccr3.6490. eCollection 2022 Nov.

DOI:10.1002/ccr3.6490
PMID:36348983
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9634265/
Abstract

Periodontal Ehlers-Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo-mutation of pEDS with generalized Periapical cemental dysplasia (PCD) and cerebral leukoencephalopathy.

摘要

牙周埃勒斯-当洛综合征（pEDS）是一种由补体1亚基基因C1R和C1S的杂合突变引起的罕见疾病。迄今为止，文献中已描述了148例病例。我们描述了1例疑似pEDS新发突变合并广泛性根尖周牙骨质发育异常（PCD）和脑白质脑病的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1fb/9634265/b42006594d32/CCR3-10-e6490-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1fb/9634265/9fac2e5c8dc4/CCR3-10-e6490-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1fb/9634265/7bc079312260/CCR3-10-e6490-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1fb/9634265/b42006594d32/CCR3-10-e6490-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1fb/9634265/9fac2e5c8dc4/CCR3-10-e6490-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1fb/9634265/7bc079312260/CCR3-10-e6490-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1fb/9634265/b42006594d32/CCR3-10-e6490-g003.jpg

相似文献

1
Multifocal periapical cemental dysplasia in periodontal Ehlers-Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS].牙周埃勒斯-当洛综合征中的多灶性根尖周牙骨质发育异常合并c.890G＞a、G297D突变的白质脑病[牙周埃勒斯-当洛综合征]
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本文引用的文献

1
Familial florid cemento-osseous dysplasia: a report of three cases and review of the literature.家族性弥漫性骨纤维异常增殖症：三例报告及文献复习。
Dentomaxillofac Radiol. 2021 Jan 1;50(1):20190486. doi: 10.1259/dmfr.20190486. Epub 2020 Apr 21.
2
Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.Ehlers-Danlos 综合征的口腔表现：系统评价。
Acta Derm Venereol. 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428.
3
Difficulties in the diagnosis of periapical translucencies and in the classification of cemento-osseous dysplasia.
根尖透光区诊断困难及骨-牙骨质发育不良分类困难。
BMC Oral Health. 2019 Jul 10;19(1):139. doi: 10.1186/s12903-019-0843-0.
4
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD).小鼠的 ANOCTAMIN 5 基因缺失可复制人类颌骨-骨干发育不良（GDD）。
Calcif Tissue Int. 2019 Jun;104(6):679-689. doi: 10.1007/s00223-019-00528-x. Epub 2019 Feb 2.
5
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.牙周弹性纤维假黄瘤伴白质脑病。
Neurogenetics. 2019 Mar;20(1):1-8. doi: 10.1007/s10048-018-0560-x. Epub 2018 Dec 8.
6
A novel calibration method incorporating nonlinear optimization and ball-bearing markers for cone-beam CT with a parameterized trajectory.一种新型的校准方法，结合了非线性优化和球轴承标记，用于具有参数化轨迹的锥形束 CT。
Med Phys. 2019 Jan;46(1):152-164. doi: 10.1002/mp.13278. Epub 2018 Dec 13.
7
Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review.埃勒斯-当洛斯综合征的牙周表现：系统评价。
J Clin Periodontol. 2017 Nov;44(11):1088-1100. doi: 10.1111/jcpe.12807. Epub 2017 Sep 25.
8
The fourth edition of the head and neck World Health Organization blue book: editors' perspectives.《世界卫生组织头颈部蓝皮书》第四版：编辑观点
Hum Pathol. 2017 Aug;66:10-12. doi: 10.1016/j.humpath.2017.05.014. Epub 2017 Jun 2.
9
The 2017 international classification of the Ehlers-Danlos syndromes.2017年埃勒斯-当洛综合征国际分类法。
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.
10
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.牙周埃勒斯-当洛综合征由编码补体亚成分C1r和C1s的C1R和C1S基因突变引起。
Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.