Suppr超能文献

一名患有皮肤松弛型埃勒斯-当洛综合征老年患者的皮肤、骨科和心血管表现及管理:病例报告

Dermatologic, Orthopedic, and Cardiovascular Manifestations and Management in a Geriatric Patient With Dermatosparaxis-Type Ehlers-Danlos Syndrome: A Case Report.

作者信息

Al Sayed Assem, Sumrall Chrystal

机构信息

Family Medicine, William Carey University College of Osteopathic Medicine, Hattiesburg, USA.

Family Medicine, Hattiesburg Clinic, Laurel, USA.

出版信息

Cureus. 2024 Nov 7;16(11):e73211. doi: 10.7759/cureus.73211. eCollection 2024 Nov.

Abstract

Ehlers-Danlos syndrome (EDS) is a diverse group of hereditary connective tissue disorders resulting from mutations in genes involved in the synthesis and metabolism of collagens. Collagen, a structural protein in the connective tissues, plays an important role in maintaining the integrity and strength of various tissues, including the skin, ligaments, tendons, cartilage, and blood vessels. As such, EDS is characterized by joint hypermobility, skin elasticity, and tissue fragility. This paper discusses the case of an elderly patient with dermatosparaxis-type EDS (dEDS), a rare autosomal recessive subtype caused by mutations in the ADAMTS2 gene, leading to significant skin fragility, among other characteristic manifestations. This case highlights the complexities involved in the management of the diverse dermatological, orthopedic, and cardiovascular manifestations of dEDS and underscores the importance of individualized care plans that address the complexities of dEDS and improve the quality of life of dEDS patients.

摘要

埃勒斯-当洛综合征(EDS)是一组由参与胶原蛋白合成和代谢的基因突变引起的遗传性结缔组织疾病。胶原蛋白是结缔组织中的一种结构蛋白,在维持包括皮肤、韧带、肌腱、软骨和血管在内的各种组织的完整性和强度方面发挥着重要作用。因此,EDS的特征是关节活动过度、皮肤弹性和组织脆弱性。本文讨论了一例患有皮肤松弛型EDS(dEDS)的老年患者的病例,dEDS是一种由ADAMTS2基因突变引起的罕见常染色体隐性亚型,除其他特征性表现外,还导致明显的皮肤脆弱。该病例突出了dEDS各种皮肤、骨科和心血管表现管理中所涉及的复杂性,并强调了个性化护理计划的重要性,这些计划应解决dEDS的复杂性并提高dEDS患者的生活质量。

相似文献

2
Connective Tissue Disorders in Domestic Animals.家畜结缔组织疾病。
Adv Exp Med Biol. 2021;1348:325-335. doi: 10.1007/978-3-030-80614-9_15.
3
Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.VII型埃勒斯-当洛综合征:一例墨西哥病例报告。
Case Rep Dermatol. 2012 Jan;4(1):104-13. doi: 10.1159/000338277. Epub 2012 Apr 20.
6
Vascular aspects of the Ehlers-Danlos Syndromes.血管性埃勒斯-当洛斯综合征。
Matrix Biol. 2018 Oct;71-72:380-395. doi: 10.1016/j.matbio.2018.04.013. Epub 2018 Apr 27.
7
Ehlers-Danlos syndromes and Marfan syndrome.埃勒斯-当洛综合征和马凡综合征。
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005.

本文引用的文献

2
The Ehlers-Danlos syndromes.埃勒斯-当洛斯综合征。
Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9.
4
Arterial Elasticity in Ehlers-Danlos Syndromes.埃勒斯-当洛斯综合征的动脉弹性。
Genes (Basel). 2020 Jan 4;11(1):55. doi: 10.3390/genes11010055.
5
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.
6
Orthopaedic management of the Ehlers-Danlos syndromes.埃勒斯-当洛综合征的骨科治疗
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):188-194. doi: 10.1002/ajmg.c.31551. Epub 2017 Feb 13.

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