Scleroderma sine-Raynaud in children: the Fibrotic Subtype

Objective Juvenile Systemic Sclerosis (JSSc) is characterized by vascular manifestations, including Raynaud's 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. Methods Single center cohort study of consecutive patients with JSSc diagnosed since 2004. Data on demographic, clinical, autoantibody profile and treatment were collected in a standardized method. Disease severity was periodically evaluated by the J4S severity score and outcome was categorized as clinical remission (CR), clinical remission on-medication (CRM) or active/progressive disease (AP). Results Of 45 patients, 38 with at least four years follow up were included in the study. The mean age at onset was 10.3 years, mean follow up time 8.2 years and 61% were female. Thirty-three (87%) presented with Raynaud phenomenon and five (13%), all with diffuse cutaneous involvement, did not. The latter subgroup of patients, which we term "fibrotic subtype" (fJSSc), had predominant skin involvement and mild internal organ involvement (gastrointestinal in all, pulmonary in two). While ANA were positive in all fJSSc patients, none had SSc-specific autoantibodies and two had SSc-associated autoantibodies. Scleroderma pattern on capillaroscopy was detected in 4/5 patients. At the last follow-up visit, no fJSSc patient had active/progressive disease, three were in CR and two in CRM for mild pulmonary disease. Conclusion This proof-of-concept study describes a potential new clinical phenotype, which we term Fibrotic JSSc, characterized by predominant skin involvement, absence of SSc-specific autoantibodies and favorable outcome.