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Updated: Oct 18, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Systemic sclerosis sine scleroderma in children.

Francesco Zulian1, Gloria Lanzoni1, Biagio Castaldi1

  • 1Department of Woman and Child Health, University of Padua, Padua, Italy.

Rheumatology (Oxford, England)
|October 4, 2021
PubMed
Summary
This summary is machine-generated.

Sine scleroderma juvenile systemic sclerosis (ssJSSc) is rare, often presenting with cardiac issues. Early diagnosis is crucial as ssJSSc has a worse outcome than classic JSSc, highlighting the need for thorough rheumatological evaluation.

Keywords:
cardiomyopathyheartjuvenile systemic sclerosispulmonary arterial hypertensionscleroderma

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Area of Science:

  • Pediatric Rheumatology
  • Rare Diseases
  • Systemic Autoimmune Conditions

Background:

  • Juvenile systemic sclerosis (JSSc) is a rare childhood autoimmune disease.
  • Sine scleroderma JSSc (ssJSSc) lacks skin involvement, making it difficult to diagnose.
  • This study presents the first case series of ssJSSc.

Purpose of the Study:

  • To describe the clinical characteristics and outcomes of patients with ssJSSc.
  • To compare ssJSSc with classic JSSc (cJSSc).
  • To emphasize the importance of early diagnosis and comprehensive evaluation for ssJSSc.

Main Methods:

  • Retrospective collection of demographic, clinical, and laboratory data from JSSc patients.
  • Definition of ssJSSc based on specific criteria (no skin, but presence of RP, ANA, dysmotility, ILD, PAH, cardiac, or renal involvement).
  • Comparison of ssJSSc cases with cJSSc patients.

Main Results:

  • Five of 52 JSSc patients (9.6%) had ssJSSc.
  • ssJSSc patients experienced a significantly longer diagnostic delay (20.1 vs. 8.3 months).
  • Cardiac involvement was more frequent (85.7% vs. 15.6%) and outcomes were worse (42.9% vs. 6.2% mortality/organ failure) in ssJSSc compared to cJSSc.

Conclusions:

  • Cardiac involvement is a key feature of ssJSSc, associated with high morbidity and mortality.
  • Delayed diagnosis in ssJSSc necessitates a comprehensive rheumatological work-up for suspected cases.
  • Prompt identification and management are critical for improving outcomes in ssJSSc.