AB0736 Systemic sclerosis sine scleroderma: characteristics of a south indian cohort from a tertiary care centre

Abstract

BackgroundSystemic Sclerosis is a complex disorder characterised by autoimmunity, vasculopathy and fibrosis. The hallmark of Systemic Sclerosis is skin thickening. Systemic Sclerosis sine scleroderma is a variant of Systemic sclerosis which shares visceral, serological and vascular manifestations but lacks skin thickening. Systemic Sclerosis sine scleroderma still remains a rarely reported subtype of Systemic Sclerosis unlike commonly reported limited cutaneous and diffuse cutaneous types.ObjectivesAim of this study was to analyse the characteristics of patients with Systemic Sclerosis sine scleroderma from a cohort of Systemic Sclerosis patients.MethodsThis study was done at Institute of Rheumatology, Madras Medical College, Chennai, India. It was a retrospective observational study(January 2006 to November 2016). Patients satisfying ACR/EULAR 2013 Classification criteria for Systemic Sclerosis were included in this study. Patients with Overlap syndrome, MCTD, UCTD, children and pregnant women were excluded. Poormoghim criteria was used for diagnosis of Systemic Sclerosis sine scleroderma:Absent skin thickening +Raynaud’s Phenomenon or peripheral vascular involvement +Positive ANAs+One visceral organ involvement typical of SSc +Absence of another defined connective tissue disease. Demographic, clinical and laboratory profile of all patients were analysed.ResultsAmong the 249 patients included in this study, patients with limited cutaneous systemic sclerosis were 59.4% (n=148) and diffuse cutaneous systemic sclerosis were 31.3% (n=78). 9.2% (n=23) of patients satisfied poormoghim criteria for Systemic Sclerosis sine scleroderma. The following characteristics of Systemic Sclerosis sine scleroderma were observed in our cohort. Dyspnoea (82.6%) was the most common presenting complaint and Raynauds (100%) the most common sign observed. Most common internal organ involvement was oesophageal dysfunction (78%) followed by lung involvement in the form of interstitial lung disease (52.1%) and pulmonary hypertension (47.8%). Renal involvement was not observed in any of the patients. Most common autoantibody detected among patients with Systemic Sclerosis sine scleroderma was anti-centromere antibody (78.2%) followed by anti-scl70 antibody (21.8%). Nine patients (39.1%) received pulse cyclophosphamide therapy and 3 patients received rituximab therapy in view of interstitial lung disease.Abstract AB0736 – Figure 1ConclusionsThe most common pattern of Systemic Sclerosis sine scleroderma observed in our cohort was Oesophageal dysfunction +Raynauds Phenomenon+Anti centromere antibody positivity +Interstitial lung disease with or without pulmonary hypertension which are usually the characteristics of limited cutaneous type of Systemic Sclerosis. Hence Systemic Sclerosis sine scleroderma could be a subset of limited cutaneous type without the phenotypic skin involvement.References[1] Rodnan GP, Fennel RH. Progressive systemic sclerosis sine scleroderma. JAMA1962;180:66570[2] Poormoghim H, Lucas M, Fertig N, et al. Systemic scleros...

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

“…The etiology of the disease is still unknown, and it affects females more than males 2 , 3 . The disease commonly presents with organ dysfunction such as gastric or esophageal dysfunction 4 , renal complications 2 , arthralgias or myalgias 3 , and pulmonary symptoms, as seen in our patient. The main diagnostic criteria are the absence of skin thickening, Raynaud’s phenomenon or other peripheral vascular involvement, positive antinuclear antibodies (ANA), involvement of one visceral organ typical of SSc, and the absence of another defined connective tissue disease 2 – 5 .…”

Osteopetrosis in a Patient of Systemic Sclerosis Sine Scleroderma: A Rare Association

“… 2 On the other hand, ssSSc, a rare subset of systemic sclerosis, is characterized by the presence of visceral involvement in the absence of skin manifestations. 2 4 It is believed that some ssSSc cases remain under-diagnosed and considered to be various forms of idiopathic fibrosis of internal organs. 2 The absence of skin involvement itself is probably the reason for under-diagnosis of ssSSc.…”