Patient Case: Systemic Sclerosis and Scleroderma Mimics
A 48-year-old female presents to the rheumatology clinic with a two-year history of progressive skin tightening, Raynaud’s phenomenon, and difficulty swallowing. She reports that her fingers turn white and blue in cold weather, followed by redness and tingling when they warm up. Over the past year, she has developed skin thickening over her fingers, forearms, and face, along with joint stiffness and mild shortness of breath.
She denies any history of arthritis, psoriasis, or previous lung disease but notes a recent weight loss of 4 kg and increasing fatigue.
Medical History & Social Background
• Medical history: Hypertension, gastroesophageal reflux disease (GERD).
• Family history: No known autoimmune diseases.
• Occupation: Factory worker, occasionally exposed to industrial solvents.
• Social history: Non-smoker, no history of alcohol or illicit drug use.
Physical Examination
• Skin: Thickened, shiny skin over fingers (sclerodactyly), forearms, and perioral area. No signs of rash or hyperpigmentation.
• Hands: Digital ulcers and pitting scars on fingertips. Positive hand flexion contractures.
• Joints: Mild tenderness in the small joints of the hands, no significant swelling.
• Lungs: Bibasilar crackles on auscultation.
• Cardiovascular: No murmurs or signs of right heart failure.
• Gastrointestinal: Epigastric tenderness, but no hepatosplenomegaly.
Laboratory & Imaging Findings
• Antinuclear antibody (ANA): Positive (speckled pattern, 1:320).
• Anti-Scl-70 (topoisomerase I) antibody: Positive.
• Anti-centromere antibody: Negative.
• Rheumatoid factor (RF) and anti-CCP: Negative.
• Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP): Mildly elevated.
• Pulmonary function tests (PFTs): Decreased diffusion capacity, suggestive of interstitial lung disease.
• High-resolution chest CT (HRCT): Evidence of mild pulmonary fibrosis with ground-glass opacities in lower lung fields.
• Echocardiogram: No signs of pulmonary hypertension.
Diagnosis
The patient's progressive skin tightening, Raynaud’s phenomenon, digital ulcers, and interstitial lung disease, along with positive anti-Scl-70 antibodies, are consistent with diffuse systemic sclerosis (SSc).
Consideration of Scleroderma Mimics
The following differential diagnoses were considered but ruled out:
1. Eosinophilic fasciitis – Lacks eosinophilia and deep fascial involvement.
2. Nephrogenic systemic fibrosis (NSF) – No exposure to gadolinium-based contrast agents.
3. Scleredema – No history of diabetes or prior infections.
4. Mixed connective tissue disease (MCTD) – Lacks anti-U1 RNP antibodies and other overlapping autoimmune features.
Management Plan
1. Symptom Control & Organ Protection
• Nifedipine for Raynaud’s phenomenon.
• Proton pump inhibitors (PPIs) for GERD.
• Physical therapy to prevent contractures.
2. Disease-Modifying Treatment
• Mycophenolate mofetil or cyclophosphamide for interstitial lung disease.
• Low-dose prednisone (with caution) for joint symptoms.
3. Monitoring & Long-Term Care
• Regular pulmonary function tests to assess disease progression.
• Annual echocardiography for early detection of pulmonary hypertension.
• Ongoing skin and joint assessment for worsening contractures.
Challenges & Considerations
• Progression to severe lung disease can lead to pulmonary hypertension and respiratory failure.
• Digital ulcers and ischemia increase the risk of infection and non-healing wounds.
• Psychosocial impact due to facial skin tightening and hand disability.
Prognosis
With early intervention and careful monitoring, the disease progression can be slowed, but long-term complications such as pulmonary fibrosis and
cardiac involvement require ongoing management
A) Limited systemic sclerosis
B) Diffuse systemic sclerosis
C) Mixed connective tissue disease (MCTD)
D) Eosinophilic fasciitis
A) Anti-centromere antibody
B) Anti-Scl-70 (topoisomerase I) antibody
C) Anti-U1 RNP antibody
D) Rheumatoid factor
A) Digital ulcers
B) Gastroesophageal reflux disease (GERD)
C) Interstitial lung disease (ILD)
D) Skin tightening and contractures.
A) Nonsteroidal anti-inflammatory drugs (NSAIDs)
B) Methotrexate
C) Mycophenolate mofetil or cyclophosphamide
D) Hydroxychloroquine
