Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disorder that damages multiple organs simultaneously and is associated with chronic inflammation, in which the signs of systemic sclerosis, systemic...Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disorder that damages multiple organs simultaneously and is associated with chronic inflammation, in which the signs of systemic sclerosis, systemic lupus erythematosus, and polymyositis can co-occur. Its distinctive feature and the basis for the diagnosis of MCTD is the presence of an antibody against the uridine-rich RNP of the cell nucleus (Anti-U1-RNP). It has been observed that intercurrent infections can trigger autoimmune diseases, however, the fact that viral infections—such as SARS-CoV-2—induce them is currently poorly understood. The present study raises the etiological role of the SARS-CoV-2 virus in the development of the disease. Authors describe the case of a 38-year-old patient in good general condition, who was diagnosed with mixed connective tissue disease three months after COVID-19 infection.展开更多
Purpose: To report an unusual case of retinal microvasculopathy secondary to mixed connective tissue disease (MCTD) on a background history of fragile-X syndrome (FXS). Methods: Case report and literature review. Resu...Purpose: To report an unusual case of retinal microvasculopathy secondary to mixed connective tissue disease (MCTD) on a background history of fragile-X syndrome (FXS). Methods: Case report and literature review. Results: A cotton wool spot was discovered in a 29-year-old female who presented with an ischaemic digit secondary to Raynaud’s phenomenon. She also has a background history of MCTD and FXS. Fundus examination and automated perimetry findings were normal. Magnet resonance imaging and computed tomography aortogram did not demonstrate any evidence of vasculitis in the head and neck. She was tested positively for U1-ribonuclear peptide. Interestingly, the re-distribution of Fragile-X related gene 1 has been suggested to trigger autoimmune responses in experiments. This finding makes the case peculiar as it suggests an alternate explanation for this patient’s clinical findings. Conclusion: Retinal vasculopathy is a rare complication of MCTD. The background history of FXS potentially highlights an alternate autoimmune pathogenetic mechanism.展开更多
Trimethoprim-Sulfamethoxazole (TMP-SMZ) is associated with severe hepatic toxicity or liver failure. We present a case of severe hepatic toxicity for whom TMP-SMZ was prescribed as part of treatment for mixed connecti...Trimethoprim-Sulfamethoxazole (TMP-SMZ) is associated with severe hepatic toxicity or liver failure. We present a case of severe hepatic toxicity for whom TMP-SMZ was prescribed as part of treatment for mixed connective tissue disease (MCTD). TMP-SMZ was used to prevent complications from steroid therapy, but fever and hepatic toxicity developed with repeated TMP-SMZ medication. While the drug lymphocyte stimulation test (DLST) for TMP-SMZ showed negative, the genotype for N-acetyltransferase 2 (NAT2) showed type *6/*7, which is the slow acetylating type for NAT2 activity. This finding for NAT2 genotype and the patient’s clinical history lead us to speculate that her fever and hepatic toxicity were caused by TMP-SMZ.展开更多
Interstitial lung disease(ILD) is an important mani-festation of collagen vascular diseases. It is a common feature of scleroderma, and also occurs in dermatomyositis and polymyositis, mixed connective tissue disease,...Interstitial lung disease(ILD) is an important mani-festation of collagen vascular diseases. It is a common feature of scleroderma, and also occurs in dermatomyositis and polymyositis, mixed connective tissue disease, Sjogren's syndrome, rheumatoid arthritis, systemic lupus erythematosus, and Antineutrophil cytoplasmic antibody-associated vasculitis. When present, it is associated with increased morbidity and mortality, thus making early diagnosis important. In fact, in many patients, ILD may be the first manifestation of a collagen vascular disease. The most common symptoms are cough and dyspnea. The diagnosis is made based on pulmonary function tests showing restrictive lung disease and impaired oxygen diffusion and chest imaging showing ground glass infiltrates, interstitial thickening, and/or fibrosis. The most common histologic finding on lung biopsy is non-specific interstitial pneumonia, though organizing pneumonia and usual interstitial pneumonia may also be seen. Treatment is focused on addressing the underlying collagen vascular disease with immunosuppression, either with corticosteroids or a steroid-sparing agent such as cyclophosphamide, azathioprine, or mycophenolate, although the optimal agent and duration of therapy is not known. There are few clinical trials to guide therapy that focus specifically on the progression of ILD. The exception is in the case of scleroderma-associated ILD, where cyclophosphamide has been shown to be effective.展开更多
1|TEXT I present a case of lingual Raynaud's phenomenon(RP)in a 37-year-old Caucasian woman followed for mixed connective tissue disease(MCTD).During scheduled follow-up,she shared a selfie photograph demonstratin...1|TEXT I present a case of lingual Raynaud's phenomenon(RP)in a 37-year-old Caucasian woman followed for mixed connective tissue disease(MCTD).During scheduled follow-up,she shared a selfie photograph demonstrating RP of the tongue with deep blue/violet discoloration.She was asymptomatic and had not recently eaten or drunk any cold or frozen food or liquid.Her tongue returned to normal coloration after about 2 min.展开更多
文摘Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disorder that damages multiple organs simultaneously and is associated with chronic inflammation, in which the signs of systemic sclerosis, systemic lupus erythematosus, and polymyositis can co-occur. Its distinctive feature and the basis for the diagnosis of MCTD is the presence of an antibody against the uridine-rich RNP of the cell nucleus (Anti-U1-RNP). It has been observed that intercurrent infections can trigger autoimmune diseases, however, the fact that viral infections—such as SARS-CoV-2—induce them is currently poorly understood. The present study raises the etiological role of the SARS-CoV-2 virus in the development of the disease. Authors describe the case of a 38-year-old patient in good general condition, who was diagnosed with mixed connective tissue disease three months after COVID-19 infection.
文摘Purpose: To report an unusual case of retinal microvasculopathy secondary to mixed connective tissue disease (MCTD) on a background history of fragile-X syndrome (FXS). Methods: Case report and literature review. Results: A cotton wool spot was discovered in a 29-year-old female who presented with an ischaemic digit secondary to Raynaud’s phenomenon. She also has a background history of MCTD and FXS. Fundus examination and automated perimetry findings were normal. Magnet resonance imaging and computed tomography aortogram did not demonstrate any evidence of vasculitis in the head and neck. She was tested positively for U1-ribonuclear peptide. Interestingly, the re-distribution of Fragile-X related gene 1 has been suggested to trigger autoimmune responses in experiments. This finding makes the case peculiar as it suggests an alternate explanation for this patient’s clinical findings. Conclusion: Retinal vasculopathy is a rare complication of MCTD. The background history of FXS potentially highlights an alternate autoimmune pathogenetic mechanism.
文摘Trimethoprim-Sulfamethoxazole (TMP-SMZ) is associated with severe hepatic toxicity or liver failure. We present a case of severe hepatic toxicity for whom TMP-SMZ was prescribed as part of treatment for mixed connective tissue disease (MCTD). TMP-SMZ was used to prevent complications from steroid therapy, but fever and hepatic toxicity developed with repeated TMP-SMZ medication. While the drug lymphocyte stimulation test (DLST) for TMP-SMZ showed negative, the genotype for N-acetyltransferase 2 (NAT2) showed type *6/*7, which is the slow acetylating type for NAT2 activity. This finding for NAT2 genotype and the patient’s clinical history lead us to speculate that her fever and hepatic toxicity were caused by TMP-SMZ.
文摘Interstitial lung disease(ILD) is an important mani-festation of collagen vascular diseases. It is a common feature of scleroderma, and also occurs in dermatomyositis and polymyositis, mixed connective tissue disease, Sjogren's syndrome, rheumatoid arthritis, systemic lupus erythematosus, and Antineutrophil cytoplasmic antibody-associated vasculitis. When present, it is associated with increased morbidity and mortality, thus making early diagnosis important. In fact, in many patients, ILD may be the first manifestation of a collagen vascular disease. The most common symptoms are cough and dyspnea. The diagnosis is made based on pulmonary function tests showing restrictive lung disease and impaired oxygen diffusion and chest imaging showing ground glass infiltrates, interstitial thickening, and/or fibrosis. The most common histologic finding on lung biopsy is non-specific interstitial pneumonia, though organizing pneumonia and usual interstitial pneumonia may also be seen. Treatment is focused on addressing the underlying collagen vascular disease with immunosuppression, either with corticosteroids or a steroid-sparing agent such as cyclophosphamide, azathioprine, or mycophenolate, although the optimal agent and duration of therapy is not known. There are few clinical trials to guide therapy that focus specifically on the progression of ILD. The exception is in the case of scleroderma-associated ILD, where cyclophosphamide has been shown to be effective.
文摘1|TEXT I present a case of lingual Raynaud's phenomenon(RP)in a 37-year-old Caucasian woman followed for mixed connective tissue disease(MCTD).During scheduled follow-up,she shared a selfie photograph demonstrating RP of the tongue with deep blue/violet discoloration.She was asymptomatic and had not recently eaten or drunk any cold or frozen food or liquid.Her tongue returned to normal coloration after about 2 min.
