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在一名已确诊的系统性红斑狼疮患者中发现结节性硬化症:一种罕见的巧合。

Unveiling Tuberous Sclerosis in a Diagnosed Patient With Systemic Lupus Erythematosus: A Rare Coincidence.

作者信息

Selvaratnam Karthiga, Mayurathan Pakkiyaretnam

机构信息

University Medical Unit, Teaching Hospital Batticaloa, Batticaloa, LKA.

Department of Clinical Sciences, Faculty of Health-Care Sciences, Eastern University of Sri Lanka, Batticaloa, LKA.

出版信息

Cureus. 2024 Jun 11;16(6):e62133. doi: 10.7759/cureus.62133. eCollection 2024 Jun.

Abstract

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease presenting a variable clinical course ranging from mild to severe multiorgan dysfunction. While the exact etiology of SLE remains elusive, genetic and environmental factors are known to play crucial roles in its pathogenesis. Similarly, tuberous sclerosis complex (TSC) is a multisystem autosomal dominant genetic condition that manifests as benign hamartomatous proliferation in various organs. We present the case of a 46-year-old woman diagnosed with SLE who exhibited clinical features of TSC two decades after the initial diagnosis of SLE. The definitive diagnosis of TSC was made based on major clinical criteria, including facial angiofibroma and bilateral renal angiomyolipomas. As the patient remained asymptomatic without neurological complications, specific treatment for TSC was not initiated. The coexistence of SLE and TSC is exceedingly rare and has been scarcely reported in medical literature.

摘要

系统性红斑狼疮(SLE)是一种慢性自身免疫性疾病,临床病程多变,从轻度到严重的多器官功能障碍不等。虽然SLE的确切病因仍不清楚,但已知遗传和环境因素在其发病机制中起关键作用。同样,结节性硬化症(TSC)是一种多系统常染色体显性遗传病,表现为各器官的良性错构瘤性增殖。我们报告一例46岁女性,诊断为SLE,在SLE初诊二十年后出现了TSC的临床特征。TSC的确诊基于主要临床标准,包括面部血管纤维瘤和双侧肾血管平滑肌脂肪瘤。由于患者无症状且无神经并发症,未开始针对TSC的特异性治疗。SLE和TSC的共存极为罕见,医学文献中鲜有报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1173/11238151/399eb9f551c0/cureus-0016-00000062133-i01.jpg

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