Systemic Sclerosis Sine Scleroderma Manifested with Gastrointestinal Bleeding, Antiphospholipid Syndrome and Positive Anti-RNA Polymerase III Antibody: Case Report and Literature Review
International medical case reports journal
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.
Alghamdi, Mansour and Derbes, Stephen J., "Systemic Sclerosis Sine Scleroderma Manifested with Gastrointestinal Bleeding, Antiphospholipid Syndrome and Positive Anti-RNA Polymerase III Antibody: Case Report and Literature Review" (2020). School of Medicine Faculty Publications. 1804.