Alghamdi Mansour, Derbes Stephen J
Department of Medicine, Rheumatology Section, Louisiana State University School of Medicine, New Orleans, LA, USA.
Int Med Case Rep J. 2020 Aug 4;13:323-326. doi: 10.2147/IMCRJ.S254859. eCollection 2020.
Systemic sclerosis sine scleroderma (ssSSc) is a rare disease in which patients present with internal organ manifestations of systemic sclerosis in the absence of cutaneous findings. They tend to have serological markers characteristic of systemic sclerosis (SSc), including positive antinuclear antibodies (ANA) and anticentromere antibodies (ACA). The disease has been rarely reported in the literature, and the diagnosis can be easily missed due to a lack of relevant skin findings. Here we report a patient who presented with chronic gastrointestinal bleeding with angioectasia, antiphospholipid syndrome (APS), positive ANA, positive ACA, and positive anti-RNA polymerase III antibody. The constellation of all these findings has, to our knowledge, never been described in the literature. The purpose of presenting this case is to raise the clinician's awareness of the occurrence of this disease when similar internal organs manifestations of scleroderma are encountered, and to monitor for the development of other internal manifestations and intervene promptly and accordingly.
无硬皮病的系统性硬化症（ssSSc）是一种罕见疾病，患者在无皮肤表现的情况下出现系统性硬化症的内脏器官表现。他们往往具有系统性硬化症（SSc）的血清学标志物，包括抗核抗体（ANA）阳性和抗着丝点抗体（ACA）阳性。该疾病在文献中鲜有报道，由于缺乏相关皮肤表现，诊断很容易被漏诊。在此，我们报告一例患者，其表现为伴有血管扩张的慢性胃肠道出血、抗磷脂综合征（APS）、ANA阳性、ACA阳性和抗RNA聚合酶III抗体阳性。据我们所知，所有这些表现的组合在文献中从未被描述过。呈现此病例的目的是提高临床医生在遇到类似硬皮病内脏器官表现时对该疾病发生的认识，并监测其他内脏表现的发展并及时进行相应干预。
