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Objectives To compare the clinical and laboratory features of paediatric SSc sine scleroderma (ssJSSc) with adult-onset ssSSc. Methods Demographic, clinical and laboratory data of ssJSSc, retrospectively retrieved from our hospital medical records, case reports from the literature and from the Pediatric Rheumatology European Society JSSc registry, were compared with the Padua cohort of adult patients with ssSSc. Patients were defined as having ssSSc if they never had skin involvement but all the following features: (i) RP and/or digital vasculopathy, (ii) positive ANA, (iii) internal organs involvement typical of scleroderma and (iv) no other defined CTD. Results Eighteen juvenile and 38 adult-onset ssSSc patients, mean disease duration 5.8 and 9.7 years, respectively, entered the study. The frequency of females affected was significantly lower in ssJSSc (38.9% vs 89.5%, P  < 0.0001). When compared with adults, ssJSSc displayed fewer SSc-specific capillaroscopy abnormalities (68.8% vs 94.7%, P  = 0.02) while having significantly higher vascular (digital pitting scars, ulcers 35.3% vs 10.5%, P  = 0.042), respiratory (50.0% vs 23.7%, P  = 0.02) and cardiac (50.0% vs 2.6%, P  < 0.0001) involvement. The outcome was significantly worse in ssJSSc as six patients (33%) died (n  = 3) or reached an end-stage organ failure (n  = 3) in comparison with only two deaths (5.3%) in the adult cohort. ACA were significantly lower in children (20.0% vs 68.4%, P  = 0.001) while no difference was noted for other SSc-specific autoantibodies. Conclusion Compared with adults where ssSSc generally has an indolent course, children present with aggressive disease that heralds a worse prognosis characterized by high cardiorespiratory morbidity and mortality. [ABSTRACT FROM AUTHOR]

Objective Juvenile systemic sclerosis (JSSc) is a rare condition in childhood and its variety with no skin involvement, sine scleroderma (ssJSSc), is anecdotal. We report the first case series of patients with ssJSSc. Methods Demographic, clinical and laboratory data of patients with JSSc followed at our centre were retrospectively collected. Patients with no skin involvement but with all of the features RP, positive ANA, intestinal dysmotility and/or interstitial lung disease (ILD) or pulmonary arterial hypertension (PAH) and/or cardiac or renal involvement typical of scleroderma were defined as having ssJSSc and compared with those with classic JSSc (cJSSc). Results Among 52 JSSc patients seen in 20 years, five (9.6%) presented with ssJSSc. Their clinical features and those of the only two patients reported in the literature so far were compared with classic JSSc with available complete data. Six patients had cardiac involvement as presenting feature, three primary cardiomyopathy, three secondary to PAH. Two patients died after a brief disease course and one rapidly underwent heart transplantation. In comparison with cJSSc, ssJSSc showed a significantly longer diagnostic delay (20.1 vs 8.3 months, P  = 0.017), higher frequency of cardiac involvement (85.7 vs 15.6%, P  = 0.001) and worse outcome, intended as mortality or end-stage organ failure rates (42.9% vs 6.2%, P  < 0.001). Conclusion Cardiac involvement represents the most important characteristic of ssJSSc and carries a high morbidity and mortality rate. The longer delay in diagnosis underlines the need for a comprehensive rheumatological work-up in patients with isolated cardiomyopathy or PAH/ILD. [ABSTRACT FROM AUTHOR]

Objective Cardiac involvement is the most important cause of mortality in juvenile systemic sclerosis (JSSc). Recent reports in adult patients underline that traditional techniques of imaging are inadequate to assess the subclinical cardiac involvement, while speckle tracking echocardiography (STE) is able to identify ventricular dysfunctions in the early stages. The aim of our study was to assess the role of STE in JSSc. Methods Demographic, clinical and laboratory data were collected from patients with JSSc. Cardiac investigations performed at baseline (T0) and 18 (T18) and 36 months (T36) follow-up included electrocardiography, conventional echocardiography with measurement of the ejection fraction (EF) and STE with assessment of left and right ventricular global longitudinal strain (LV-GLS and RV-GLS). Cardiac parameters have been compared with demographic characteristics and disease severity, assessed by the Juvenile Systemic Sclerosis Severity Score (J4S). Results A total of 18 patients, 12 (67%) females, entered the study. At T0, electrocardiography was abnormal in three patients, EF was reduced in one, LV-GLS was abnormal in three (16.7%) and RV-GLS was abnormal in five (27.8%). At T18, EF remained stable while at T36 the result decreased in seven of nine patients. At the same time, LV-GLS also worsened (from −21.6% to −18.2%, P  = 0.01). LV-GLS and RV-GLS at baseline showed a significant correlation with J4S (P  = 0.012 and P  = 0.02, respectively). Conclusion STE is more sensitive than standard echocardiography to identify cardiac involvement in JSSc. Over time, we observed a gradual worsening of LV-GLS, a sign of left ventricular dysfunction, that anticipated by several months the decrease of EF. [ABSTRACT FROM AUTHOR]

Objective Juvenile systemic sclerosis (JSSc) with rapidly progressive course is a life-threatening condition associated with a poor prognosis. Recently, rituximab (RTX) has been shown to be a promising treatment for adult patients with SSc. We present a series of four patients with rapidly progressive JSSc successfully treated with RTX. Methods Clinical, laboratory and functional parameters were collected from four patients with rapidly progressive JSSc treated with RTX for at least 1 year. All patients underwent four yearly courses of i.v. RTX 375 mg/m2 on day 0 and 14, at 3-month intervals. Low dose oral prednisone and MMF were also administered. Data were recorded at baseline and every 6 months and included pulmonary and myocardial function parameters, muscular, vascular and skin changes. The Juvenile Systemic Sclerosis Severity Score (J4S) estimated the overall disease severity over time. Results Four patients (three males, one female), aged 8–17 years, entered the study. Three patients presented with prevalent cardiac involvement, one with severe pulmonary involvement. After 1 year of RTX treatment, all patients showed significant improvement of J4S, Raynaud's phenomenon and cutaneous involvement. Among those with prevalent cardiac involvement, two showed an improvement of the myocardial function (left ventricular ejection fraction [EF] +37% and +19%, respectively) and in the third arrhythmias disappeared. The patient with severe pulmonary involvement showed a significant improvement of the respiratory function (forced vital capacity +46%, forced expiratory volume in 1 s +33%, diffusing capacity of the lung for carbon monoxide [DLCO] +30%). No major side effects were reported. Conclusions Our data suggest that a combination of RTX and MMF is effective in arresting the rapid progression of JSSc. [ABSTRACT FROM AUTHOR]