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Objectives: The aim of this study was to describe age, gender distribution, and age at onset of systemic lupus erythematosus (SLE), polymyositis/dermatomyositis (PM/DM), and systemic sclerosis (SSc) in Japan. Methods: We used epidemiological information on 21,405, 6,327, and 10,058 patients with SLE, PM/DM, and SSc, respectively, in a Japanese nationwide registration database of patients with intractable diseases. Results: All three diseases occur predominantly in women, with the female-to-male ratio being 8.2:1, 2.6:1, and 7.7:1 for SLE, PM/DM, and SSc, respectively. The most susceptible age for SLE is 15-44 and 20-39 years for males and females, respectively. For PM/DM it is 45-64 and 40-64 years and for SSc, 50-69 and 40-59 for men and women, respectively. Conclusions: The basic descriptive epidemiological characteristics of SLE, PM/DM, and SSc in Japan, such as gender distribution, present age, and age at onset, were surveyed nationwide for fiscal 2007. It was found that these characteristics were similar to those in Western populations. Our finding provides new information on the natural history of disease development. [ABSTRACT FROM AUTHOR]

Werner syndrome, caused by the homologous mutation of RecQ3 RNA/DNA helicase (WRN), is often misdiagnosed as systemic sclerosis (SSc) because of apparent similar skin changes and its relatively high frequency in Japan. The present study was undertaken to determine whether anti-WRN antibodies assayed by specific enzyme-linked immunosorbent assay occur in 41 SSc patients (30 diffuse and 11 limited types) and, if so, to determine any clinical association, such as skin sclerosis. Serum level of IgG anti-WRN antibody in SSc was significantly higher than that from 30 age- and sex-matched normal volunteers ( P < 0.001). The serum level of IgG anti-WRN antibody in diffuse type SSc was significantly higher than the limited type ( P < 0.05). A significant correlation was observed between serum levels of IgG anti-topoisomerase I antibody and IgG anti-WRN antibody in the same samples from SSc ( P < 0.05). Moreover, in 119 normal healthy individuals aged from 0 to 99 years, a statistically significant correlation ( P < 0.001) existed between serum level of IgG anti-WRN antibody and advancing age. A significantly higher level of IgG autoantibody specific for WRN detected in diffuse than in limited type SSc and normal may contribute to the pathogenesis of skin sclerosis in SSc. [ABSTRACT FROM AUTHOR]

A 55-year-old man, diagnosed with systemic sclerosis (SSc) for 20 years, was admitted to our hospital for exertional dyspnea and pleural effusion. Computed tomography scan and cytological findings of the pleural fluid suggested malignant mesothelioma. In the postmortem examination, the tumor was pathologically diagnosed as pseudomesotheliomatous adenocarcinoma (PMA) of the lung, classified into pleomorphic carcinoma with adenocarcinoma component according to the new World Health Organization guidelines. This is the first case report of SSc with PMA. [ABSTRACT FROM AUTHOR]

Here, we describe a case of severe pancreatitis in overlap syndrome of systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) in an adult female patient. Treatment with plasmapheresis and high-dose prednisone successfully saved her life and led to remission of the pancreatitis. This is the first case report of severe acute pancreatitis in the setting of overlap syndrome of SLE and SSc. The advantages and disadvantages of the use of corticosteroids are discussed. [ABSTRACT FROM AUTHOR]

We encountered a 62-year-old woman who had systemic sclerosis (SSc) complicated by idiopathic portal hypertension (IPH). She had a 10-year history of scleroderma and Raynaud's phenomenon. She also had pancytopenia, splenomegaly, and esophageal varices. Treatment with prednisolone and endoscopic variceal ligation resulted in improvement of her symptoms. According to our literature review, the prognosis of patients with SSc complicated by IPH is relatively poor. However, the factors that predict outcome of these patients have not been elucidated. [ABSTRACT FROM AUTHOR]

We encountered a 65-year-old Japanese woman with systemic sclerosis (SSc) of the diffuse cutaneous type complicated by autoimmune hemolytic anemia (AIHA), whose chief complaints were shortness of breath and palpitation. Since the complication of AIHA with SSc is known to be rare (less than 20 cases in the literature), we reported this case for further study of the association of SSc with AIHA by accumulating data from similar cases. [ABSTRACT FROM AUTHOR]

A 68-year-old woman with systemic sclerosis developed acute respiratory failure due to diffuse alveolar hemorrhage and normotensive scleroderma renal crisis (SRC) shortly after the initiation of corticosteroid therapy. Treatment with angiotensin-converting enzyme inhibitor and plasmapheresis had failed in this patient. Autopsy showed diffuse alveolar damage and thrombotic micro-angiopathy. The sequence of events in this patient clarifies the pathologic process of normotensive SRC, and suggests a causative role of corticosteroid therapy and normotensive SRC. [ABSTRACT FROM AUTHOR]

We report the case of a 54-year-old woman with systemic sclerosis and Sjögren’s syndrome, followed by a simultaneous onset of Graves’ disease and primary biliary cirrhosis. Eight years after the patient was diagnosed with systemic sclerosis and secondary Sjögren’s syndrome, she complained of thirst and lower extremity muscle weakness. Initially, these symptoms were thought to be due to her original diseases, but laboratory data revealed thyroid dysfunction as well as liver dysfunction, and further tests confirmed the diagnoses of Graves’ disease and primary biliary cirrhosis. The patient was treated with thiamazole and ursodeoxycholic acid. Following treatment, her symptoms were relieved, and laboratory data improved. Although a combination of these diseases is rare, it is important to keep in mind that various autoimmune diseases can occur simultaneously, and early detection and therapy are important. [ABSTRACT FROM AUTHOR]

In general, patients with systemic sclerosis (SSc) have been classified in two clinical subsets (diffuse and limited) based on the extent of skin thickening, and the extent of skin fibrosis is closely related to the severity of organ involvement and mortality rates. In addition, there is a rapid progression of skin thickening in diffuse cutaneous SSc (dcSSc). In this study, we classified a novel subset of SSc based on the rate of skin thickening progression, and evaluated the relationship of the subset to disease severity and laboratory markers. Thirty-three patients with dcSSc were included in the study. Participants who had a modified Rodnan’s total skin thickness score higher than 15 points within a year from the first symptoms were defined as having rapidly progressive SSc (RPSSc; group 1), while all the other dcSSc patients were defined as having non-RPSSc (group 2). The frequencies of interstitial lung disease and renal crisis were significantly higher in group 1 than in group 2. The frequencies of antitopoisomerase I antibody (anti-topo I) and anti-SS-A antibody were significantly higher in group 1 than in group 2. Conversely, the frequency of anticentromere antibody was significantly higher in group 2 than in group 1. This study demonstrates the clinical significance of a new subset of SSc (defined as RPSSc), which is characterized by a markedly rapid progression of skin thickening. This new classification may be useful for predicting the prognosis of SSc at an early stage, so that patients who should receive aggressive therapy with immunosuppressants might be identified. [ABSTRACT FROM AUTHOR]

We report a rare case of a 17-year-old female with overlap syndrome (systemic lupus erythematosus and systemic sclerosis) who developed severe abdominal pain and bloody diarrhea accompanied by central nervous system lupus. Colonoscopy revealed multiple irregular and linear ulcers throughout the colon, which were resistant to corticosteroid pulse therapy and plasma exchange. The patient finally recovered after treatment with a relatively low dose of monthly intravenous cyclophosphamide (250 mg/m2) pulse therapy. [ABSTRACT FROM AUTHOR]

To determine the efficacy of cyclosporin A (CysA) for the treatment of steroid-resistant interstitial pneumonitis (IP), we enrolled 25 patients with various rheumatic diseases and steroid-resistant IP in a pilot study [4 patients with rheumatoid arthritis (RA), 2 with systemic lupus erythematosus (SLE), 11 with polymyositis/dermatomyositis (PM/DM), 4 with systemic sclerosis (SSc), 1 with mixed connective tissue disease (MCTD), 3 with Sjögren syndrome (SS)]. Twelve patients (48%) showed a persistent response to CysA therapy, and 7 of them had PM/DM, including so-called amyopathic DM. Patients with a persistent response had moderately elevated lactate dehydroxygenase (LDH) levels, whereas patients who died had much higher LDH levels and hypoxia. Even patients with low blood levels of CysA achieved a persistent response. In responding patients, the symptoms, chest X-ray findings, arterial oxygen tension, and LDH level all improved after less than 4 weeks. In conclusion, CysA seem to be useful for treating patients with steroid-resistant IP, whose duration is short and severity is mild. [ABSTRACT FROM AUTHOR]

Werner syndrome (WS), caused by the mutation of the RecQ3 DNA helicase gene (loss of function), manifests scleroderma-like skin changes and juvenile cataracts in addition to a variety of clinical and biochemical aging phenotypes at an early stage of life, followed by death at an average age of 46 years. WS has been nominated as a top-ranking premature aging syndrome, or a human model of accelerated aging. Analyses of clinical and biological deterioration of body systems observed in WS may shed a unique light on the role of gene(s) in the pathogenesis of systemic sclerosis (SSc) and normal human aging. [ABSTRACT FROM AUTHOR]

Activation of the immune system and increased synthesis of extracellular matrix proteins by fibroblasts are hallmarks in the pathogenesis of systemic sclerosis (SSc). The mechanisms that initiate the accumulation of inflammatory cells are still unknown. Chemokines are a family of small molecules that are divided into subfamilies according to the position of NH2-terminal cysteine motif. A new nomenclature for chemokines recently has been introduced in an attempt to overcome the confusion resulting from a number of different names for the same chemokines. Recent data indicate that chemokines, and in particular MCP-1 (CCL2), might be involved in the pathogenesis of SSc at different levels. MCP-1 is highly upregulated in skin specimens from SSc patients compared with those from healthy controls. Dermal fibroblasts release MCP-1, which is able to induce and perpetuate the migration of inflammatory cells into the skin. Interestingly, data from animal models, as well as from in vitro studies, indicate that MCP-1 might also be involved in the increased synthesis of extracellular matrix proteins, by either direct or indirect mechanisms. In conclusion, chemokines represent interesting candidates for target-directed therapies for SSc. This concept has to be confirmed by further studies using animal models for SSc and other fibrotic diseases. [ABSTRACT FROM AUTHOR]

We present the case of a 60-year-old female patient with systemic sclerosis complicated by pulmonary hypertension. Ten days after the initiation of treatment with bosentan, high fever and skin eruptions were noted. In the previous reports, the frequency of drug-induced skin eruptions has not been well documented. Since the use of bosentan is expected to increase, we should be aware of the previously unknown adverse effects as well as skin eruptions. [ABSTRACT FROM AUTHOR]

A 71-year-old woman was admitted to our hospital with prominent abdominal distention. The diagnosis of systemic sclerosis (SSc) was made based on the sclerosis on her face, forearms, fingers, and toes as well as pitting ulcers on fingers and toes. After conservative therapy, she presented more severe signs of peritoneal irritation. Abdominal surgery was performed, revealing stenosis at the terminal ileum. Pathologically, this region showed muscularis propia becoming fibrotic. She was discharged from the hospital, returning about once a month as an outpatient. [ABSTRACT FROM AUTHOR]

Presents a case report of a female patient with Takayasu arteritis associated with systemic sclerosis. Medical history of the patient; Result of laboratory investigations; Approach used in diagnosing systemic sclerosis.