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National Registry for Childhood Onset Scleroderma I: Insights from the first 341 juvenile localized scleroderma
Samantha A Branton1, Leigh A Stubbs2, Haley J Havrilla3
1University of Pittsburgh, Pittsburgh, PA, USA.
Insights
Early recognition of juvenile-onset localized scleroderma is crucial. This condition often presents with extracutaneous manifestations, necessitating systemic treatment and comprehensive screening for better patient outcomes.
Area of Science:
- Pediatric Rheumatology
- Dermatology
- Autoimmune Diseases
Background:
- Juvenile-onset localized scleroderma (JOLS) is often underdiagnosed.
- Extracutaneous manifestations (ECMs) in JOLS can lead to delayed systemic treatment.
- A comprehensive understanding of JOLS demographics and presentation is lacking.
Purpose of the Study:
- To describe the demographics, presentation, and disease course of JOLS.
- To identify common extracutaneous manifestations and associated laboratory findings in JOLS.
- To evaluate the effectiveness of systemic treatment in JOLS.
Main Methods:
- Analysis of 341 patients from the National Registry for Childhood Onset Scleroderma.
- Review of demographic data, clinical presentation, and laboratory values.
- Assessment of treatment outcomes using validated tools like the Localized Scleroderma Cutaneous Assessment Tool.
Main Results:
- Most JOLS patients were female (71%), Caucasian (94%), with linear subtype (56%) and onset at 7.5 years.
- A high prevalence of extracutaneous manifestations (70%) was observed, predominantly musculoskeletal (57%) and neurological (46%).
- Systemic therapy led to significant improvement in skin and damage indices, with p<0.001 and p=0.001 respectively.
Conclusions:
- There is a significant delay in diagnosing JOLS, highlighting the need for earlier recognition.
- Frequent extracutaneous manifestations in JOLS contribute to a substantial disease burden.
- Systemic treatment and thorough screening for extracutaneous manifestations are beneficial for JOLS patients.
Objectives:
There is an under recognition of juvenile-onset localized scleroderma and its extracutaneous manifestations leading to delay in systemic treatment. Our study aims to address this gap by describing the demographics, presentation, associated family history, concurrent autoimmune disease, extracutaneous manifestations, laboratory evaluation, treatment, and course of disease in juvenile-onset localized scleroderma patients enrolled in the National Registry for Childhood Onset Scleroderma.
Methods:
Participants for this study were derived from the National Registry for Childhood Onset Scleroderma and included 341 patients with juvenile-onset localized scleroderma. Demographic, and prospectively collected outcome measures, such as the Localized Scleroderma Cutaneous Assessment Tool, physical exam findings, laboratory values, and patient-reported outcomes were reviewed.
Results:
Most patients were female (71%), Caucasian (94%), had a linear subtype (56%), and had the onset of disease at age 7.5 (±4.2) years, and diagnosis 1.9 (±2.6) years after symptom onset. Most patients experienced at least one extracutaneous manifestation (70%), most commonly musculoskeletal (57%), followed by neurological (46%), and ophthalmological (11%). Those with musculoskeletal extracutaneous manifestation have significantly abnormal inflammatory and antibody laboratory values. Of patients with 1-year follow-up, a majority were treated with systemic therapy and globally improved with significant reduction in both modified Localized Scleroderma Skin Index (p < 0.001) and Localized Scleroderma Damage Index (p = 0.001).
Conclusion:
The study highlights need for earlier recognition of juvenile-onset localized scleroderma after demonstrating the delay in diagnosis and frequent extracutaneous manifestations with significant disease burden in a juvenile-onset localized scleroderma cohort. The benefits of systemic treatment and full extracutaneous manifestation screening in juvenile-onset localized scleroderma is supported.
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