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一例具有早期完全临床表现的CREST综合征非典型病例。

An Atypical Case of CREST Syndrome With Early Complete Clinical Manifestation.

作者信息

Schock Geil A, Simon Dana, Weitzman Ethan, Weitzman Raymond

机构信息

College of Osteopathic Medicine, Michigan State University, East Lansing, USA.

William Beaumont School of Medicine, Oakland University, Auburn Hills, USA.

出版信息

Cureus. 2025 Jun 21;17(6):e86500. doi: 10.7759/cureus.86500. eCollection 2025 Jun.

DOI:10.7759/cureus.86500
PMID:40693094
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12279287/
Abstract

CREST syndrome, the limited cutaneous subtype of systemic sclerosis, is defined by five classic clinical features: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia, which also forms the initialism. While diagnosis requires the presence of only three criteria, the full expression of all five is uncommon and typically develops gradually over many years. We describe the case of a 44-year-old Spanish-speaking female patient who presented to a community-based health clinic. Her initial evaluation identified the recent onset of Raynaud's phenomenon, esophageal symptoms, sclerodactyly, and facial telangiectasia. Serology was notable for positive anti-centromere and antinuclear antibodies. One year later, she developed a painful mass on her right foot, ultimately identified as dystrophic calcification consistent with calcinosis. This case highlights a rare, rapidly progressive, and complete manifestation of CREST syndrome. This atypical presentation also underscores the importance of early recognition, multidisciplinary management, and careful attention to social determinants of health in patients with autoimmune disease.

摘要

CREST综合征是系统性硬化症的局限性皮肤亚型,由五个典型临床特征定义:钙质沉着、雷诺现象、食管动力障碍、指(趾)硬化和毛细血管扩张,这五个特征也构成了其首字母缩略词。虽然诊断只需具备三条标准,但全部五个特征完全出现的情况并不常见,通常会在多年间逐渐发展。我们描述了一名讲西班牙语的44岁女性患者的病例,她前往一家社区健康诊所就诊。对她的初步评估发现她近期出现了雷诺现象、食管症状、指(趾)硬化和面部毛细血管扩张。血清学检查显示抗着丝点抗体和抗核抗体呈阳性。一年后,她右足出现了一个疼痛性肿块,最终被确定为与钙质沉着相符的营养不良性钙化。该病例突出了CREST综合征一种罕见、快速进展且完全表现的情况。这种非典型表现也强调了自身免疫性疾病患者早期识别、多学科管理以及密切关注健康的社会决定因素的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/395d/12279287/3ed6038f2359/cureus-0017-00000086500-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/395d/12279287/3ed6038f2359/cureus-0017-00000086500-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/395d/12279287/3ed6038f2359/cureus-0017-00000086500-i01.jpg

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本文引用的文献

1
Raynaud's Phenomenon with Focus on Systemic Sclerosis.以系统性硬化症为重点的雷诺现象
J Clin Med. 2022 Apr 28;11(9):2490. doi: 10.3390/jcm11092490.
2
Emerging treatments for scleroderma/systemic sclerosis.硬皮病/系统性硬化症的新兴治疗方法。
Fac Rev. 2021 May 5;10:43. doi: 10.12703/r/10-43. eCollection 2021.
3
Epidemiology of systemic sclerosis in the UK: an analysis of the Clinical Practice Research Datalink.英国系统性硬化症的流行病学:临床实践研究数据库分析。
Rheumatology (Oxford). 2021 Jun 18;60(6):2688-2696. doi: 10.1093/rheumatology/keaa680.
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Autoantibodies in systemic sclerosis: unanswered questions.系统性硬化症中的自身抗体:未解决的问题。
Front Immunol. 2015 Apr 15;6:167. doi: 10.3389/fimmu.2015.00167. eCollection 2015.
5
Diagnosis and classification of systemic sclerosis.系统性硬化症的诊断与分类。
Clin Rev Allergy Immunol. 2011 Apr;40(2):78-83. doi: 10.1007/s12016-010-8198-y.