Systemic Sclerosis Without Raynaud Phenomenon in Children: The Fibrotic Subtype

Juvenile-onset systemic sclerosis (JSSc) is characterized by vascular manifestations, including Raynaud phenomenon (RP) and vascular disease-related internal organ damage. We describe the clinical features of a subgroup of JSSc patients without clinical vascular manifestations, as a hypothesis-generating analysis of a possible new subtype.

This was a single-center cohort study of consecutive patients with JSSc diagnosed since 2004. Data on demographics, clinical features, autoantibody profile, and treatment were collected in a standardized method. Disease severity was periodically evaluated by the Juvenile Systemic Sclerosis Severity Score (J4S). Outcome was categorized as clinical remission (CR), clinical remission on medication (CRM), or active/progressive disease (AP).

Of 45 patients, 38 with at least 4 years of follow-up were included in the study. The mean age at onset was 10.3 years, mean follow-up time was 8.2 years, and 60.5% were female. Thirty-two (84.2%) patients presented with RP and 5 (13%) patients, all with diffuse cutaneous involvement, did not. The latter subgroup, which we term "fibrotic JSSc" (fJSSc), showed predominant skin involvement and mild internal organ involvement (gastrointestinal in all 5 patients, pulmonary in 2 patients). Whereas antinuclear antibodies were positive in all patients with fJSSc, none had SSc-specific autoantibodies and 2 had SSc-associated autoantibodies. SSc pattern on nailfold videocapillaroscopy was detected in 4/5 patients. At the last follow-up visit, no patient with fJSSc had AP, 3 were in CR, and 2 were in CRM for mild pulmonary disease.

This proof-of-concept study describes a potential new clinical phenotype, termed fJSSc, characterized by predominant skin involvement, absence of SSc-specific autoantibodies, and favorable outcome.