暂无摘要。

Microvascular remodeling and capillary repopulation can occur after autologous hematopoietic stem cell transplant (HSCT) in patients with systemic sclerosis and systemic lupus erythematosus (SLE). We aim to report evidence for microvascular remodeling after autologous HSCT as observed by nailfold videocapillaroscopy (NVC). We describe a rare occurrence of features consistent with systemic sclerosis and SLE in a 33-year-old female with a complex clinical course refractory to conventional treatments, ultimately requiring autologous HSCT. We performed NVC before and after HSCT using optical video and light microscopy. At the microvascular level, morphologic changes in the capillary vascular bed were observed after HSCT. Pretransplant damage in capillary structure was noted as evidenced on NVC with architectural loss, ramifications, capillary drop, and decreased density. Posttransplant NVC revealed an increase in capillary density with evidence of microvascular remodeling. Further studies on the clinical use and impact of microvascular remodeling on disease progression are needed and looking into the application of NVC scoring to assess clinical response would be meaningful.

Systemic sclerosis (SSc) is one of the chronic autoimmune diseases characterized by the infiltration of excess collagen in various organs, especially the skin. It is found to be associated with a higher prevalence of internal malignancies, particularly lung carcinoma. Herein, we report a case of adenosquamous carcinoma confining within the lung in a patient who had long-standing SSc. She was a 55-year-old female patient presenting with progressive dry cough and breathlessness for six months. She had been a known case of diffuse cutaneous SSc for over a decade, based on 2013 American College of Rheumatology (ACR) criteria. The diagnosis is made based on her findings of bilateral thickening of the fingers on both hands, extending up to the metacarpophalangeal joints. Furthermore, she had telangiectasia at the upper chest wall and neck, multiple pitting scars at the toes, Raynaud\'s esophageal dilatation, and interstitial lung disease (ILD). She had been treated on Mycophenolate Mofetil 500 mg twice daily and low-dose prednisolone 5 mg once daily for 10 years. The patient\'s high-resolution computed tomography (HRCT) of the chest revealed a subpleural nodule in the posterior basal segment of the left lower lobe with areas of reticular opacities and interlobular septal thickening on bilateral lung fields six months earlier. The current computed tomography of the lung revealed a new 2.6 x 2.5 cm ill-defined lesion with irregular margins at the left lower lobe. A CT-guided biopsy was done for the lesion, which revealed adenosquamous carcinoma. Immunohistochemistry was consistent with a diagnosis of primary pulmonary adenosquamous carcinoma. The patient did not accept any further investigations and/or treatment. Herein, we present a rare lung malignancy, adenosquamous carcinoma of the lung with an underlying long-term diffuse cutaneous SSc in a nonsmoking female, which highlights the importance of lung cancer screening in individuals with SSc complicated with ILD and supports the fact that there is an increased prevalence of lung cancer among SSc-ILD patients than that of the regular population.

Systemic sclerosis (SSc) poses significant challenges in clinical management, especially when complicated by scleroderma renal crisis (SRC), a rare but life-threatening manifestation. Here, we report a 41-year-old female patient with SSc who presented with SRC and concurrent thrombotic microangiopathy. Her condition persisted despite conventional treatments such as plasma exchange and renin-angiotensin-aldosterone system blockade. In particular, treatment with eculizumab, a C5 complement inhibitor, led to a rapid improvement in platelet count, reduction in lactate dehydrogenase levels, and complete recovery of renal function. Genetic testing revealed a variant of unknown significance in the thrombomodulin (THBD) gene, which is associated with the complement system. This case highlights the complex interplay between complement dysregulation and SRC, and highlights the promising role of eculizumab in refractory cases. Further investigation of complement involvement and the efficacy of eculizumab in SRC warrants attention to improving therapeutic outcomes in this challenging condition.

Eosinophilic fasciitis (EF) is a rare inflammatory disease characterized by skin and fascial thickening. Unlike systemic sclerosis, EF lacks internal organ involvement and specific autoantibodies, with peripheral eosinophilia as a hallmark feature. Patients may exhibit joint pain and contractures due to fibrosis. We present a case of a patient who presented with skin thickening involving her upper and lower extremities and was ultimately diagnosed with EF based on a skin biopsy. This case underscores the importance of recognizing the unique clinical and histological features of EF.

Buerger\'s disease is characterized by peripheral ischemia due to occlusion of small- and medium-sized arteries in the extremities. This report describes a case of Buerger\'s disease in a 51-year-old male who presented with findings resembling systemic sclerosis. The patient exhibited Raynaud\'s phenomenon in year X-3, which developed to skin hardening, nail avulsion, and ulceration of the right fingers in year X. Diagnostic testing showed positive microvasculopathy on nailfold videocapillaroscopy (NVC) and positive fibrosis on skin biopsy. Although the patient fulfilled the 2013 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for systemic sclerosis, several findings in this case were atypical for systemic sclerosis, including left-right asymmetry in finger involvement, nail loss, and negative autoantibody tests. Contrast-enhanced computed tomography showed poor perfusion of the right ulnar artery, and a heavy smoking history was established in the patient case. Therefore, based on Shionoya\'s criteria, he was diagnosed with a case of Buerger\'s disease confined to the upper extremity. Smoking cessation and vasodilator therapy resulted in the prompt resolution of ischemic symptoms, skin hardening, and ulcerations. Furthermore, NVC abnormalities improved, and ulnar artery occlusion showed reperfusion on repeat testing. The present case suggests that hypoxemia-driven microvasculopathy may contribute to vascular occlusion and skin fibrosis observed in this atypical presentation.

OBJECTIVE: To retrospectively evaluate the incidence rate (IR) of elevated echocardiographic estimated systolic pulmonary artery pressure (sPAP), suspected for pulmonary hypertension (PH), in systemic sclerosis (SSc) patients after the introduction of a combination therapy with bosentan and sildenafil for treatment or prevention of digital ulcers.
METHODS: Patients attending the Scleroderma Unit of the Universital Hospital of Careggi from July 2010 to July 2023 were enrolled. Patients older than 18 years old with a history of digital ulcers, treated with bosentan and sildenafil in combination for at least 12 months, were included. Patients with a diagnosis of PH preceding the introduction of the therapy were excluded. Demographical data, disease duration, laboratoristic, and instrumental data (pulmonary function tests, echocardiographic estimation of sPAP, and ultrasonographic value of renal resistive index) were collected. The IR of echocardiographic signs suspected of pulmonary hypertension and their 95% confidence interval were calculated in events/1000 patients-years.
RESULTS: Thirty-five patients were enrolled; the mean disease duration was 12.82 years (SD 5.92). The mean duration of the combination treatment was 81.03 (SD 43.1.3) months, and the total at-risk time was 2674 months. Two patients (5.7%) presented echocardiographic signs of PH (sPAP 50 mmHg and 40 mmHg); the IR was calculated to be 9/1000 patients-years (95% CI 7.95-10.12). In one of the two patients, right heart catheterism (RHC) excluded PAH, while the other patient refused to undergo RHC, and PAH could not be confirmed/excluded. The stability of PFTs and echocardiographic sPAP was observed during the observation time.
CONCLUSIONS: The results of this retrospective study suggest that combination therapy with endothelin receptor antagonists and phosphodiesterase-5 (PDE5) inhibitors could help in preventing PAH in SSc; prospective case-control studies on a larger population are needed to improve knowledge in this field.

暂无摘要。

UNASSIGNED: The SARS-CoV-2 is the source of COVID-19, a respiratory disease. It typically manifests as restricted pulmonary symptoms, but autoimmune dysfunction might occasionally show up. A COVID-19 infection may cause a multi-system connective tissue disease known as systemic sclerosis (SSc). In patients who recovered from COVID-19, autoimmunity may have multiple underlying causes.
UNASSIGNED: The authors report the case of a 68-year-old female who, 1 month after contracting COVID-19, complained of dyspnoea and muscle exhaustion. The patient was treated for post-COVID syndrome. She developed symptoms of chronic dyspnoea, pale fingers, pursed lips, trouble chewing and swallowing, and muscle weakness after 7 weeks. A chest high-resolution computerised tomography (HRCT) scan suggested interstitial lung disease. Clinical characteristics and an autoantibody profile containing anti-Ro 52 and anti-centromere antibodies pointed towards SSc. She was treated with azathioprine and prednisolone at a reduced dosage, and she is now stable with monthly follow-ups.
UNASSIGNED: COVID-19 might induce cytokine storms and immunological dysregulation, ultimately culminating in autoimmune manifestations. Several autoantibodies are observed in autoimmune illnesses in post-COVID-19 infection patients. Our situation is distinct because SSc following a COVID-19 infection is not commonly seen as an autoimmune illness.
UNASSIGNED: The number of patients with rare autoimmune diseases, like SSc, following COVID-19 has been rising. Therefore, we should consider the possibility of autoimmune disease when looking into a patient who presents strangely or has developed new symptoms after COVID and should contact the patient\'s management immediately.

Overlapping autoimmune disorders are used to describe the coexistence of more than one autoimmune disease in the same patient. Mixed connective tissue disease (MCTD) and anti-synthetase syndrome (ASS) are autoimmune diseases that manifest with pulmonary involvement, presenting as persistent dyspnea. The coexistence of both conditions in the same patient is extremely rare. We herein report a case of a 44-year-old female who was diagnosed with MCTD with features of ASS (anti-Jo-1 antibody) in the setting of rheumatoid arthritis (anti-cyclic citrullinated peptide (anti-CCP) antibody), which shows temporary breathing improvement following treatment with corticosteroid and mycophenolate mofetil. However, after the completion of mycophenolate mofetil, she was found to be anti-Jo-1 antibody negative and anti-CCP antibody positive. Our case emphasizes the need to recognize overlapping autoimmune conditions in patients with complex clinical features and presentations with the immediate application of a comprehensive diagnostic approach and tailored treatment strategies. Early diagnosis and aggressive treatment are crucial for achieving remission and preventing organ damage.