Progressive Systemic Sclerosis With Negative Antinuclear Antibodies and Absence of Raynaud’s Phenomenon: A Case Report and Literature Review

Abstract

Systemic sclerosis (SSc) is typically characterized by positive antinuclear antibodies (ANA) and Raynaud's phenomenon (RP). We present the case of a male patient with progressive diffuse skin tightening, interstitial lung disease (ILD), pericardial tamponade, renal failure, and gastrointestinal dysmotility who was diagnosed with severe, rapidly progressive SSc despite negative ANA, absent RP, and a negative malignancy workup. The patient's clinical course was complicated by scleroderma renal crisis (SRC) requiring dialysis and eventual kidney transplantation. He also had severe gastrointestinal dysmotility requiring gastrostomy tube placement and total parenteral nutrition. Multiple agents were required for treatment, including mycophenolate mofetil (MMF) and rituximab. The patient eventually had improvement in his skin fibrosis and has been doing well in follow-up after kidney transplantation. Treatment of SSc can be challenging given the heterogeneity of the disease, and recognition of this subset of SSc patients is needed to help prevent early mortality among them.

Anti-Th/To Antibodies in Scleroderma: Good Prognosis or Serious Concern?

“…Various immune cells are involved in SSc’s pathogenesis. Antinuclear autoantibodies are detected in up to 95% of patients suffering from the disease and can influence its clinical course [ 4 ]. Currently, the list of SSc-specific antibodies includes anti-centromere (ACA), anti-topoisomerase I (anti-topo 1) and anti-RNA polymerase III (anti-RNA pol III) antibodies [ 5 ].…”