Background/Purpose: Juvenile Systemic Sclerosis (JSSc) is a rare condition in childhood and its variety with no skin involvement, systemic sclerosis sine scleroderma (JSSSS) is anecdotal as only two cases have been reported to date^1,2. We describe a series of four patients from our Center and compare these six patients with a cohort of patients with standard JSSc.

Methods: Unselected consecutive patients with Juvenile Systemic Sclerosis (JSSc), diagnosed according with the PRES/EULAR/ACR criteria³ were retrospectively evaluated. For every patient, we collected demographic, clinical and laboratory data, autoantibody profile and treatment. The following clinical-instrumental parameters were considered: skin involvement by the mRodnan Skin Score, Raynaud’s phenomenon (RP), chest x-ray, high-resolution computed tomography (HRCT), diffusing capacity for carbon monoxide (DLCO), forced vital capacity (FVC), musculoskeletal involvement, esophageal scintiscan or 24-hour pH-metry, and malabsorption test. Cardiac investigations included at rest electrocardiography (EKG), cEcho and cMRI. Patients without skin involvement at onset were compared with those with standard JSSc. The association between categorical variables has been investigated with Fisher’s exact test. Student T test or Mann Whitnet U test was used to compare numerical variables between the two groups, as appropriate.

Results: Among 47 patients with JSSc, 4 (8.5%) presented with systemic sclerosis sine scleroderma (JSSSS). The clinical features of these four patients and of other two, reported in the literature^1,2, were compared with a group of 30 JSSc patients with complete clinical data available. All JSSSS patients, 3 male and 3 female, had cardiovascular involvement as presenting feature, 3 primary myocarditis, 3 secondary to pulmonary arterial hypertension (PAH) and two (33.3%) died after a brief disease course. ANA was positive in all except one reported in 1993². Scleroderma specific antibodies were present in Patient 4/5 tested patients (2 anti-topoisomerase, 1 anti-centromere, 1 anti-RNA polymerase I and III). Altered EKG and cMRI were present in all tested patients; cEcho parameter ejection fraction (EF) was reduced in 4/6 patients.  The comparison between the two cohort of patients, JSSSS and JSSc, revealed a significant higher cardiac involvement in JSSSS (100% vs 16.7%, p< 0.0001), higher prevalence of EKG, cEcho and MRI abnormalities (p< 0.001). All the other clinical and laboratory parameters, including age at onset, sex and delay in diagnosis, were not significantly different in the two groups.

Conclusion: To the best of our knowledge, this is the first case series of patients JSSSS. Cardiovascular involvement represents the most important clinical feature of this subtype and still carries a very high morbidity and mortality rate⁴. Our experience, although in a small cohort, confirms the crucial role of complete rheumatologic work-up in pediatric patients with isolated myocardiopathy or PAH.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/cardiovascular-involvement-as-a-clue-for-diagnosis-of-juvenile-systemic-sclerosis-sine-scleroderma/