Systemic Sclerosis Without Raynaud Phenomenon in Children: The Fibrotic Subtype

Area of Science:

• Pediatric Rheumatology
• Dermatology
• Immunology

Background:

• Juvenile Systemic Sclerosis (JSSc) typically involves vascular issues like Raynaud's phenomenon (RP) and organ damage.
• A subset of JSSc patients may present without these characteristic vascular manifestations.

Purpose of the Study:

• To identify and characterize a potential new subtype of JSSc lacking clinical vascular manifestations.
• To hypothesize a distinct clinical phenotype within JSSc based on observed features.

Main Methods:

• A single-center cohort study included consecutive JSSc patients diagnosed since 2004.
• Data collected included demographics, clinical features, autoantibody profiles, and treatment.
• Disease severity was assessed using the J4S score, with outcomes categorized as clinical remission (CR), clinical remission on-medication (CRM), or active/progressive disease (AP).

Main Results:

• Out of 45 patients, 38 with over four years of follow-up were analyzed.
• Five patients (13%) lacked RP, all having diffuse cutaneous involvement; this group was termed "fibrotic subtype" (fJSSc).
• fJSSc patients exhibited predominant skin and mild gastrointestinal/pulmonary involvement, lacked SSc-specific autoantibodies, and had a favorable outcome with no active/progressive disease at follow-up.

Conclusions:

• This study identifies a potential new clinical phenotype in JSSc, the Fibrotic JSSc (fJSSc).
• fJSSc is characterized by predominant skin involvement, absence of SSc-specific autoantibodies, and a favorable prognosis.
• Further research is warranted to validate this distinct clinical subtype of JSSc.