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Progressive Systemic Sclerosis With Negative Antinuclear Antibodies and Absence of Raynaud's Phenomenon: A Case Report and Literature Review.
Curēus 2023 March
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.
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