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Systemic Sclerosis Without Raynaud Phenomenon in Children: The Fibrotic Subtype.

Francesco Zulian1, Francesca Tirelli2, Greta Mastrangelo3

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A new subtype of Juvenile Systemic Sclerosis (JSSc), termed Fibrotic JSSc, presents with skin-predominant disease and no Raynaud's phenomenon. This fibrotic JSSc subtype shows a favorable prognosis with mild organ involvement.

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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.