Question

A patient presents with numbness in finger tips and facial skin tightening. ANA is positive with IF nucleolar pattern. What is the most probable diagnosis?

• A. Systemic sclerosis
• B. Sjogren's syndrome
• C. SLE
• D. RA

Hint:

Facial skin tightening with ANA nucleolar pattern is the classic combination pointing to one specific connective tissue disease.

Answer 1

The Correct Option is A

Step 1: Analyse the clinical features.

• Numbness in finger tips: Suggests Raynaud's phenomenon or peripheral neuropathy due to skin/vascular changes affecting the digits.
• Facial skin tightening: This is the hallmark of Systemic Sclerosis (Scleroderma) - characterised by fibrosis and hardening of the skin.

Step 2: Interpret the immunology.
ANA positive with Nucleolar pattern on immunofluorescence (IF) is the characteristic ANA pattern in Systemic Sclerosis. The nucleolar pattern reflects antibodies targeting nucleolar antigens (RNA polymerase I, Th/To, fibrillarin).

Step 3: Compare with other options.

• Sjogren's syndrome: ANA positive but typically with speckled pattern (anti-Ro/SSA, anti-La/SSB); presents with dry eyes and dry mouth, not skin tightening.
• SLE: ANA positive with homogeneous or speckled pattern; anti-dsDNA and anti-Smith antibodies; not typically associated with skin tightening and nucleolar ANA pattern.
• RA: ANA may be weakly positive; hallmark antibodies are anti-CCP and RF; presents with joint inflammation, not skin tightening.

Step 4: Confirm the diagnosis.
The combination of facial skin tightening + finger tip numbness (Raynaud's phenomenon) + ANA nucleolar pattern = Systemic Sclerosis.

Specific antibodies in systemic sclerosis: Anti-Scl-70 (diffuse SSc), Anti-centromere (limited SSc/CREST), Anti-RNA polymerase III.