Case Reports in Rheumatology最新文献

The coronavirus disease (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 has led to rapid progress in vaccine development to prevent the spread of the disease. Although COVID-19 vaccines have excellent effectiveness in reducing morbidity and disease severity with minor adverse reactions, some patients develop late hypersensitivity events as autoimmune reactions such as rheumatoid arthritis, lupus nephritis, and vasculitis following COVID-19 vaccination. Herein, we describe a case of pneumonitis following COVID-19 mRNA vaccination in a patient with rheumatoid arthritis, which resolved spontaneously.

Juvenile dermatomyositis (JDM) is a rare condition worldwide, affecting children younger than 16 years. It is characterized by weakness in the proximal skeletal muscles and a pathognomonic skin rash. Patients with JDM develop complications that are usually a consequence of vasculopathy affecting multiple organ systems. Occult gastrointestinal (GI) perforation is an uncommon complication and is associated with an increased risk of mortality due to a delay in diagnosis. We report on a 14-year-old male with JDM with an aggressive course over two years and severe clinical manifestations. The patient developed necrotizing fasciitis, an unusual rapidly progressing lethal infection of the fascia resulting from bowel contents seeping from multiple intestinal perforations. This case, less commonly seen in males, highlights the occurrence of multiple phenomena-JDM complicated by skin and gastrointestinal vasculopathy with resultant development of multiple GI perforations and consequently life-threatening necrotizing fasciitis of the leg. Physicians need a high index of suspecting GI perforation in JDM patients as the delayed recognition of this complication can result in significant morbidity and/or mortality since the typical symptoms of perforation may be absent.

Kikuchi-Fujimoto disease (KFD) is a rare and benign disease process that is characterized by fever and lymphadenopathy that was first described in young Japanese women in the early 1970s. Knowledge of KFD is important as it can often mimic other causes of lymphadenopathy including systemic lupus erythematosus (SLE) or malignancies, and this can lead to invasive diagnostic testing and even treatments that can be avoided. The etiology and exact mechanism by which KFD develops is not fully understood at this time, but is thought to be an immune response of T cells and histiocytes to viral or bacterial infections. We present a 35-year-old African-American woman who was referred to the rheumatology clinic by our colleagues in the breast clinic with new onset right axillary lymphadenopathy and abnormal serologic testing with the suspicion of SLE after a malignancy had been ruled out.

The COVID-19 virus has impacted global health on a wide scale, affecting humans of all ages and ethnicities. While most have mild upper respiratory viral symptoms, some have died due to severe pneumonia, acute respiratory distress syndrome (ARDS), or coagulopathies to mention a few. It has been postulated that the COVID-19 virus can initiate an autoinflammatory reaction in the body via multiple pathways of cytokine activation. The virus can cause delayed response after 4-8 weeks of acute infection, which resembles a cytokine storm or MAS (macrophage activation syndrome). This highly inflammatory syndrome, called MIS-C or multisystem inflammatory response syndrome, needs to be diagnosed and treated early to prevent multiorgan damage and mortality. There are widespread lab abnormalities including highly elevated acute phase reactants ferritin, D-Dimer, lactate dehydrogenase (LDH), creatinine kinase (CK), sedimentation rate (ESR), and C-reactive protein (CRP) as well as markers of cardiac damage including troponin and brain natriuretic peptide (BNP). The syndrome can present in unique ways from classic MIS-C with hypovolemic shock to Kawasaki disease-like presentation. We present a case of a 12-year-old boy who presented to Le Bonheur Children's Hospital in Memphis with classic signs and symptoms of "severe" MIS-C requiring intubation, multiple pressors, ECMO, and renal replacement therapy. He was treated successfully with immunomodulating medicines including intravenous immune globulin (IVIG), steroids, interleukin-6 inhibitor, tumor necrosis factor-a inhibitor, interleukin-1 inhibitor, and Janus kinase inhibitor.

Association of hypertrophic osteoarthropathy (HOA) with pulmonary tuberculosis is rarely reported, especially with smear-negative pulmonary tuberculosis (SNPT), in which its diagnosis is a challenge. We used a systematic approach to analyze all relevant literature reviews, and we identified only two cases of HOA associated with pulmonary tuberculosis in the last 10 years. We report the case of a 36-year-old man who presented with bilateral symmetric polyarthralgia and digital clubbing. Laboratory exams associated elevated acute phase reactants with negative immunological examinations. Two series of three acid-fast Bacillus (AFB) smear microscopy in sputum, separated by 15 days of broad-spectrum antibiotic therapy, were negative. A sputum culture was negative for Mycobacterium tuberculosis. A chest X-ray and computed tomography (CT) showed an apical pulmonary cavity. Plain X-ray and bone scintigraphy revealed periostosis of the tubular bones. Therefore, the diagnosis of HOA associated with probable SNPT was made. HOA symptoms had remitted after 3 months of antitubercular therapy. After 7 months of treatment, chest CT and bone scintigraphy showed a regression of the pulmonary cavity and disappearance of periostosis. The search for tuberculosis in front of any HOA seems to be justified in our epidemiological context.

Infections of the paranasal sinuses are common and usually occur in patients who are immunocompromised. Many atypical clinical presentations have been reported but rarely in the elderly population. We report a 71-year-old female patient with a 20-year history of an autoimmune disease who had recently become resistant to treatment. Her autoimmune symptoms significantly improved following resection of deeply seated bacterial infection in her paranasal sinuses. She was also diagnosed with cervical cancer. Clinicians should look carefully for hidden infections and/or malignancies in patients lacking response while on immunosuppressive therapy for autoimmune disease.

Down syndrome (DS) results from a trisomy of chromosome 21, which causes immune dysregulation that leads to hyperactivation of interferon and Janus kinase (JAK) signaling. This results in complex medical abnormalities in the immune system and an increase in autoimmune and autoinflammatory conditions such as down syndrome-associated arthritis (DA). DA is an aggressive, destructive, inflammatory arthritis that is easily misdiagnosed and difficult to treat. Treatment commonly includes immunosuppressive therapy, but these are often associated with adverse effects and ineffectiveness. This case report outlines a 6-year-old male with DA that was successfully treated with the JAK inhibitor tofacitinib. Due to the aggressive nature of DA and poor response to many immunosuppressive therapies, this case report was created to increase awareness of JAK inhibition as an effective, well-tolerated treatment for DA.

Background: Hydroxychloroquine is an effective and widely used treatment in multiple autoimmune connective tissue diseases that gained a lot of publicity in the coronavirus disease 2019 (COVID-19) pandemic. Our case reports are unique in that they explore the rare and sometimes overlooked effects of this drug on multiple organ systems, specifically the kidney, cardiac muscle, and skeletal muscle. We include key histologic features in images which aid in identifying and distinguishing hydroxychloroquine toxicity from mimickers. Lastly, we report the very interesting similarity in the intracellular action of hydroxychloroquine to the pathology of Fabry disease (and its associated lysosomal enzyme, α-galactosidase A). Case Presentation. We will examine the case presentations of three female Caucasian patients: a 22-year-old with lupus nephritis class V, a 72-year-old with long-standing systemic lupus erythematosus, and a 74-year-old with undifferentiated connective tissue disease. All three patients were on hydroxychloroquine therapy for varying amounts of time with histologic evidence of hydroxychloroquine toxicity that is three is present in histological samples of the kidney, the heart, and the skeletal muscle.

Conclusions: Hydroxychloroquine is a very important and beneficial medication used for various autoimmune connective tissue diseases. Clinicians should be aware of the rare but sometimes serious side effects that can result from the medication, which at times can mimic manifestations of the connective tissue disease itself or Fabry disease. A thorough investigation should be performed in these cases to properly elucidate the cause followed by the appropriate targeted therapy.

We report the case of a 29-year-old adult presenting with severe IgA vasculitis, with cutaneous, urologic, and renal manifestations. The late appearance of severe gastrointestinal bleeding dominated the clinical picture, necessitating the administration of tens of units of packed cells and the augmentation of the immunosuppressive protocol. It was not until therapy with intravenous immunoglobulin (IVIG) was introduced that the massive bleeding was controlled. We herein discuss the patient's presentation, the gastrointestinal manifestations of IgA vasculitis, the recommended treatments, and the existent evidence about IVIG therapy.