UNASSIGNED: Systemic sclerosis (SSc) is divided into three subtypes: limited cutaneous SSc (lcSSc), diffuse cutaneous SSc (dcSSc), and systemic sclerosis sine scleroderma (ssSSc). ssSSc is a rare subtype of SSc that presents with internal organ manifestations but no cutaneous findings.
UNASSIGNED: We report the case of a 58-year-old patient with a history of pulmonary hypertension who presented with symptoms of fatigue, inflammatory polyarthritis, and joint swelling. Following a comprehensive clinical examination and laboratory tests, the patient was diagnosed with ssSSc.
UNASSIGNED: Due to its atypical clinical course, we present this case report, which commenced with idiopathic pulmonary hypertension. Subsequently, after 7 months, the patient presented complaints of polyarthritis with positive antinuclear antibodies. Raynaud\'s phenomenon was identified 2 months later during the rheumatology clinic examination. Typically, the clinical course encompasses all three features simultaneously, without any gap between them.
UNASSIGNED: Diagnosis of ssSSc remains challenging, and it is essential to consider this disease form in all cases involving unexplained fibrotic involvement of the internal organs.

UNASSIGNED: Even in the absence of characteristic cutaneous symptoms of scleroderma, systemic sclerosis should be considered in the differential diagnosis of patients initially diagnosed with idiopathic interstitial lung disease.
UNASSIGNED: Systemic sclerosis (SSc) is an idiopathic connective tissue disorder characterized by multisystem involvement. Although skin thickening is a hallmark manifestation of SSc, a subset known as systemic sclerosis sine scleroderma (ssSSc) presents with internal organ involvement and positive serologic markers in the absence of significant cutaneous manifestations. We report the case of a 36-year-old Iranian woman who presented with clubbing as an initial symptom of ssSSc. Notably, clubbing as the sole initial sign of the disease has not been previously reported. Timely diagnosis of ssSSc is crucial to facilitate appropriate treatment and prevent disease progression. Physicians should adopt a comprehensive approach when evaluating patients presenting with limited clinical features, as they might be indicative of underlying ssSSc.

Systemic sclerosis is a connective tissue disorder of unknown etiology. Although it is a multisystemic disorder, skin thickening is considered as a hallmark of the disease. It usually involves the lungs, gastrointestinal, and musculoskeletal systems. However, a rare subset of systemic sclerosis, systemic sclerosis sine scleroderma, is characterized by internal organ involvement and positive serologic markers with the total or partial absence of cutaneous manifestations. We present a rare association of osteopetrosis in a case of systemic sclerosis sine scleroderma, in a 22-year-old male patient, who presented with pulmonary symptoms as his chief complaints, unreported so far in literature.

Systemic sclerosis sine scleroderma (ssSSc) is a rare disease in which patients present with internal organ manifestations of systemic sclerosis in the absence of cutaneous findings. They tend to have serological markers characteristic of systemic sclerosis (SSc), including positive antinuclear antibodies (ANA) and anticentromere antibodies (ACA). The disease has been rarely reported in the literature, and the diagnosis can be easily missed due to a lack of relevant skin findings. Here we report a patient who presented with chronic gastrointestinal bleeding with angioectasia, antiphospholipid syndrome (APS), positive ANA, positive ACA, and positive anti-RNA polymerase III antibody. The constellation of all these findings has, to our knowledge, never been described in the literature. The purpose of presenting this case is to raise the clinician\'s awareness of the occurrence of this disease when similar internal organs manifestations of scleroderma are encountered, and to monitor for the development of other internal manifestations and intervene promptly and accordingly.

暂无摘要。

Polymyositis (PM) is usually associated to other autoimmune or connective tissue diseases. The authors report the case of a 59-year-old man with pulmonary fibrosis, who presented with constitutional symptoms and gradually developed proximal muscle weakness, Raynaud phenomenon, and dysphagia. Besides creatine kinase (CK) elevation, he had positive anti-Polymyositis-Scleromyositis (PM-Scl) and anti-Sjögren\'s-syndrome A (SSA) antibodies. Nailfold capillaroscopy showed a scleroderma pattern and muscle biopsy revealed necrosis, regeneration of muscle fibers, and inflammatory infiltrate. Prednisolone was started, with great improvement. Taking into account the overlap features between PM and systemic sclerosis sine scleroderma, it is important to closely monitor the patient for signs of pulmonary and cardiac decompensation.
UNASSIGNED: Polymyositis (PM) may be associated with connective tissue diseases such as systemic sclerosis, including its variant without skin involvement.Necrotizing muscle fibers are typically found in patients with overlap syndrome, in opposition to patients only with polymyositis.PM-Scl antibodies are associated to a good response to corticoids.

OBJECTIVE: Systemic sclerosis sine scleroderma (ssSSc) is an infrequent SSc variant characterized by visceral and immunological manifestations of SSc in the absence of clinically detectable skin involvement. We sought to delineate the characteristics of ssSSc in a cohort of Brazilian patients and contrast them with those in the literature.
METHODS: SSc patients seen at two academic medical centres in Brazil were retrospectively analysed. Patients were classified as ssSSc if they presented with RP, positive ANAs and at least one visceral involvement typical of SSc in the absence of skin thickening. Demographics, clinical and laboratory data were obtained by chart review. Literature review was performed by searching available original studies up until June 2012.
RESULTS: Among the 947 consecutive patients with SSc, 79 (8.3%) were classified as ssSSc. Oesophagus was the most frequently affected organ (83.1%), followed by pulmonary involvement (63.2%). Compared with the limited cutaneous form of SSc, telangiectasia was the only variable significantly different after multivariate logistic regression analyses (odds ratio 0.46; 95% CI 0.27, 0.81). Compared with the diffuse cutaneous form of SSc, multivariate analyses revealed that ssSSc patients were less likely to be male (odds ratio 0.15; 95% CI 0.04, 0.57), have digital ulcers (odds ratio 0.26; 95% CI 0.13, 0.51) or anti-Scl70 antibodies (odds ratio 0.19; 95% CI 0.07, 0.55) and less frequently treated with CYC (odds ratio 0.23; 95% CI 0.12, 0.43). These features were comparable to those in the published literature.
CONCLUSIONS: In this series, patients with ssSSc had a relatively mild disease with good prognosis.