Systemic sclerosis sine scleroderma: clinical and serological features and relationship with other cutaneous subsets in a large series of patients from the national registry ‘SPRING’ of the Italian Society for Rheumatology

Abstract

ObjectiveTo describe demographic, clinical and laboratory features of systemic sclerosis sine scleroderma (ssSSc) in a large multicentre systemic sclerosis (SSc) cohort.MethodsData involving 1808 SSc patients from Italian Systemic sclerosis PRogression INvestiGation registry were collected. The ssSSc was defined by the absence of any cutaneous sclerosis and/or puffy fingers. Clinical and serological features of ssSSc were compared with limited cutaneous (lcSSc) and diffuse cutaneous (dcSSc) subsets.ResultsAmong patients with SSc, only 61 (3.4%) were classified as having ssSSc (F/M=19/1). Time from Raynaud’s phenomenon (RP) onset to diagnosis was longer in ssSSc (3 years, IQR 1–16.5) than lcSSc (2 years, IQR 0–7), and dcSSc (1 year, IQR 0–3) (p<0.001). Clinical ssSSc phenotype was comparable to lcSSc, except for digital pitting scars (DPS) (19.7% vs 42%, p=0.01), but significantly milder than dcSSc, particularly for digital ulcers (DU) (6.6% vs 35.7%, p<0.001), oesophagus (46.2% vs 63.5%, p=0.009), lung (mean diffusion capacity for carbon monoxide 72.2±19.6 vs 62.4±22.8, p=0.009; mean forced vital capacity 105.6±21.7 vs 89.2±20.9, p<0.001) and major videocapillaroscopic alterations (late pattern 8.6% vs 47.6%, p<0.001). Moreover, in ssSSc the percentages of anticentromere and antitopoisomerase were comparable to lcSSc (40% and 18.3% vs 36.7% and 26.6%), but divergent respect to dcSSc (8.6% and 67.4%, p<0.001).ConclusionThe ssSSc is a quite rare disease variant characterised by clinico-serological features comparable to lcSSc, but significantly different from dcSSc. Overall, longer RP duration, low percentages of DPS and peripheral microvascular abnormalities, and increased anti-centromere seropositivity distinguish ssSSc. Further investigations based on national registries might provide useful insights on the actual relevance of the ssSSc within the scleroderma spectrum.

Systemic sclerosis sine scleroderma with atypical clinical course: a rare case report

“…The prevalence of arthritis was 11.5%. Moreover, the frequency of positive anti-centromere autobody’s was 40% 10 . Diab et al .…”

“…Several studies have been conducted to investigate the prevalence of ssSSc among patients with SSc and to identify the clinical features and organ involvement associated with this subtype. Studies have reported a female predominance and a high prevalence of pulmonary involvement and pulmonary arterial hypertension in ssSSc 3 , 10 , 11 .…”

Practice pattern for the use of intravenous iloprost for the treatment of peripheral vasculopathy in systemic sclerosis: A case–control study from the Italian national multicenter “SPRING” (Systemic Sclerosis Progression InvestiGation) Registry

“…19,20 In our IV ILO–treated patients, the higher ILD prevalence is not surprising, as DUs and anti-Topo I are present in more severe patients, including those with ILD. 21,22 It is interesting to note that, despite the lack of RCTs, ILO seemed able to improve skin thickness and pulmonary arterial systolic pressure in observational studies, 23–25 again suggesting its use in the more aggressive subsets of the disease.…”

The Role of IRF8 Polymorphisms in Systemic Sclerosis Development and Pathogenesis

“…The actual diagnosis is made by fulfilling the EULAR classification criteria, even though not all patients can be classified into those criteria [16,17]. Furthermore, in 1962, a separate subset of SSc named SSc sine scleroderma (ssSSc) was described [18], characterized by peripheral vascular system, gastrointestinal system, lung, and heart involvement and by a lack of skin involvement [19], making diagnosis very difficult for the clinicians [20].…”