Question:medium
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 patient presents with numbness in finger tips and facial skin tightening. ANA is positive with IF nucleolar pattern. What is the most probable diagnosis?
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Facial skin tightening with ANA nucleolar pattern is the classic combination pointing to one specific connective tissue disease.
Updated On: Jun 23, 2026
- Systemic sclerosis
- Sjogren's syndrome
- SLE
- RA
Show Solution
The Correct Option is A
Solution and Explanation
Rheumatological diagnosis using ANA IF patterns:
ANA patterns and their disease associations:
Clinical correlation:
The patient has $\textit{skin tightening of the face}$ (the hallmark of scleroderma - systemic sclerosis) and $\textit{finger tip numbness}$ (Raynaud's phenomenon - most common initial feature of SSc).
This combination of:
is pathognomonic of Systemic Sclerosis.
$\textit{Note:}$ Nucleolar pattern is common in people with scleroderma (systemic sclerosis) and is NOT characteristic of SLE, RA, or Sjogren's syndrome.
\[\boxed{\text{Systemic sclerosis (Option A)}}\]
ANA patterns and their disease associations:
- Homogeneous/diffuse pattern: SLE (anti-dsDNA, anti-histone)
- Speckled pattern: SLE, Sjogren's, MCTD (anti-Sm, anti-Ro, anti-La, anti-U1 RNP)
- Nucleolar pattern: Systemic Sclerosis (anti-RNA pol I, anti-fibrillarin, anti-Th/To)
- Centromere pattern: Limited SSc/CREST syndrome
- Perinuclear pattern: PR3-ANCA diseases
Clinical correlation:
The patient has $\textit{skin tightening of the face}$ (the hallmark of scleroderma - systemic sclerosis) and $\textit{finger tip numbness}$ (Raynaud's phenomenon - most common initial feature of SSc).
This combination of:
- Facial skin fibrosis (scleroderma)
- Raynaud's phenomenon (digit numbness/color changes)
- ANA nucleolar pattern
is pathognomonic of Systemic Sclerosis.
$\textit{Note:}$ Nucleolar pattern is common in people with scleroderma (systemic sclerosis) and is NOT characteristic of SLE, RA, or Sjogren's syndrome.
\[\boxed{\text{Systemic sclerosis (Option A)}}\]
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