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VIII型埃勒斯-当洛综合征

Ehlers-Danlos syndrome type VIII.

作者信息

Nelson D L, King R A

出版信息

J Am Acad Dermatol. 1981 Sep;5(3):297-303. doi: 10.1016/s0190-9622(81)70095-1.

DOI:10.1016/s0190-9622(81)70095-1
PMID:7263975
Abstract

The Ehlers-Danlos syndrome (EDS) is a group of inherited disorders of connective tissue characterized by joint hypermobility, cutaneous hyperextensibility, and tissue fragility. At least nine subgroups of the disease have been described, each with a characteristic clinical pattern or unique biochemical defect. We describe three members of a family with the constellation of findings diagnostic of EDS type VIII. The trait first manifests in childhood, when minor trauma produces ecchymoses, which resolve normally except on th shins. The pretibial skin heals with distinct hyperpigmented atrophic scars. There is no hyperextensibility of the skin, nor evidence of visceral involvement. Minimal joint hypermobility was noted in one patient. Early onset of periodontal disease, with loss of the permanent teeth, is characteristic. EDS type VIII is inherited as an autosomal dominant trait.

摘要

埃勒斯-当洛综合征(EDS)是一组遗传性结缔组织疾病,其特征为关节活动过度、皮肤过度伸展和组织脆弱。该疾病至少已被描述出九个亚组,每个亚组都有独特的临床模式或独特的生化缺陷。我们描述了一个家族中的三名成员,他们具有诊断为VIII型EDS的一系列症状。该特征在儿童期首次出现,轻微创伤会导致瘀斑,除了小腿外,这些瘀斑通常会正常消退。胫前皮肤愈合后会留下明显的色素沉着性萎缩瘢痕。皮肤没有过度伸展,也没有内脏受累的迹象。在一名患者中发现了轻微的关节活动过度。早期出现牙周病并伴有恒牙脱落是其特征。VIII型EDS作为常染色体显性性状遗传。

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Ehlers-Danlos syndrome type VIII.VIII型埃勒斯-当洛综合征
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The Ehlers-Danlos syndromes.埃勒斯-当洛综合征
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引用本文的文献

1
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.临床及分子诊断确诊的成人牙周埃勒斯-当洛综合征的非口腔表现
Front Genet. 2023 May 31;14:1136339. doi: 10.3389/fgene.2023.1136339. eCollection 2023.
2
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.
3
Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).
与VIII型埃勒斯-当洛综合征(牙周炎型)相关的大脑中动脉致命性破裂血疱样动脉瘤
J Neurol Surg Rep. 2014 Dec;75(2):e210-3. doi: 10.1055/s-0034-1387185. Epub 2014 Aug 11.
4
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.Ehlers-Danlos 综合征 VIII 型是一种临床表现异质性疾病,主要与牙周病和可变的结缔组织特征相关。
Eur J Hum Genet. 2013 Feb;21(2):233-6. doi: 10.1038/ejhg.2012.132. Epub 2012 Jun 27.
5
Periodontal conditions in Williams Beuren syndrome: a series of 8 cases.威廉姆斯-博伦综合征中的牙周状况:8例病例系列
Eur Arch Paediatr Dent. 2008 Sep;9(3):142-7. doi: 10.1007/BF03262626.
6
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.伴有严重早发性牙周病的埃勒斯-当洛综合征(EDS-VIII)是一种独特的异质性疾病,在12号染色体p13区域有一个易感基因。
Am J Hum Genet. 2003 Jul;73(1):198-204. doi: 10.1086/376416. Epub 2003 May 29.
7
Ehlers-Danlos syndrome has varied molecular mechanisms.埃勒斯-当洛综合征有多种分子机制。
J Med Genet. 1997 May;34(5):400-10. doi: 10.1136/jmg.34.5.400.