Sine Scleroderma

Area of Science:

• Rheumatology
• Internal Medicine
• Vascular Medicine

Background:

• Systemic sclerosis (SSc) is a connective tissue disease characterized by skin thickening.
• Systemic sclerosis sine scleroderma (ssSSc) is a subset (10%) of limited SSc patients presenting with systemic features but no skin involvement.
• Severe critical limb ischemia (CLI) is an uncommon manifestation of ssSSc.

Purpose of the Study:

• To report a rare case of severe critical limb ischemia in a patient with systemic sclerosis sine scleroderma.
• To highlight the diverse and severe systemic manifestations that can occur in ssSSc.
• To emphasize the importance of clinical suspicion for ssSSc in patients with relevant symptoms but no skin thickening.

Main Methods:

• Case report detailing the clinical presentation, diagnostic workup, and management of a patient with ssSSc.
• Review of relevant literature on ssSSc and its rare complications.

Main Results:

• The patient presented with severe critical limb ischemia, severe pulmonary arterial hypertension (PAH), esophageal dysmotility, glomerulonephritis, and hypertension.
• The diagnosis of ssSSc was established despite the absence of characteristic skin thickening.
• The case underscores the potential for severe systemic complications in ssSSc.

Conclusions:

• Systemic sclerosis sine scleroderma can present with severe and rare manifestations like critical limb ischemia.
• A high index of clinical suspicion is crucial for diagnosing ssSSc in the absence of skin findings.
• Early diagnosis and management of ssSSc can potentially improve patient outcomes and reduce morbidity and mortality.