Case Reports in Rheumatology

Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease with an unknown entity that affects the skin and the peripheral and/or axial joints. Here, we report on a patient with SAPHO syndrome complicated by lesions of the central nervous system who was successfully treated with brodalumab, an IL-17 receptor blocker. He had been suffering from arthralgia in the wrists and knees as well as axial symptoms such as back pain and assimilation of cervical vertebrae. He had been treated with corticosteroid, salazosulfapyridine, methotrexate, and bisphosphonate; however, his peripheral and axial articular manifestation were intractable...

We report a patient with catastrophic antiphospholipid syndrome who had significant improvement after corticosteroids, plasmapheresis, argatroban, rituximab, and sirolimus. Argatroban was used instead of heparin due to a history of heparin-induced thrombocytopenia.

Antisynthetase syndrome is a rare autoimmune disease within the subset of idiopathic inflammatory myopathies. The diagnostic criteria include the presence of an aminoacyl-tRNA synthetase antibody, and typical clinical findings, including myositis, mechanic's hands, Raynaud phenomenon, unexplained fever, and interstitial lung disease. We describe a case of a 59-year-old male who presented with a 1-month history of progressive purplish discoloration and pain of the fingertips, dyspnea, cough, weight loss, fatigue, and who developed progressive proximal muscle weakness and dysphagia...

INTRODUCTION: SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory condition describing the constellation of inflammatory skin, bone, and joint manifestations which result in diagnostic difficulty and therapeutic challenge. CASE: Here, we present a case of a young male diagnosed with SAPHO syndrome with osteoarticular and cutaneous involvement from an early age in his life. He suffered diagnostic challenges for a long time and was hence inadequately treated...

Diffuse alveolar hemorrhage (DAH) is described as the collection of blood in alveolar spaces caused by damaged pulmonary vasculature. It often presents as a life-threatening medical emergency that requires urgent medical intervention along with timely diagnosis and management of the underlying cause. We hereby report a 19-year-old female who presented with clinical and radiological characteristics consistent with DAH. Laboratory workup studies revealed a diagnosis of systemic lupus erythematosus (SLE) as well as Mycobacterium tuberculosis (MTB) infection...

Pericardial effusion or the accumulation of fluid in the pericardial sac, can result from infectious, malignant, or autoimmune processes such as systemic lupus erythematous (SLE). However, pericardial effusion is infrequently the first presentation of SLE. Here, we describe the case of a 54-year-old African American woman who presented with hypertensive emergency and was found to have pericardial effusion on echocardiogram. Her hypertensive symptoms resolved with medical management and a work up were positive for serum markers of SLE and mesothelioma cell markers (calretinin, CK 5/6) and adenocarcinoma marker MOC31 in the pericardial fluid...

An elderly man with prostate cancer and a deep vein thrombosis (DVT) of the lower extremity diagnosed 12 days ago on apixaban presented with a new-onset palpable rash on both of his legs. Extensive laboratory workup was largely unremarkable, except for multiple skin punch biopsies revealing deposition of immunoglobulin A (IgA) in the superficial blood vessels with infiltration of leukocytes, concerning for a small vessel vasculitis. Given the temporal association along with the negative workup, the rash was attributed to apixaban, and the anticoagulation regimen was switched to dabigatran...

Renal involvement is underestimated as an extramuscular manifestation of dermatomyositis (DM). Here, we describe a 67-year-old woman with anti-glycyl-transfer ribonucleic acid synthetase (anti-EJ) antibody and anti-ribonucleoprotein antibody-positive DM complicated by systemic sclerosis, who developed nephrotic syndrome concurrently with the exacerbation of DM, as indicated by incremental serum creatine kinase levels, high-intensity lesions on muscle magnetic resonance imaging, and active interstitial pneumonitis on chest computed tomography...

Eosinophilic granulomatosis with polyangiitis (EGPA) is a type of antineutrophil cytoplasmic antibody-associated vasculitis. Patients often present with peripheral neuropathy and purpura, suggesting impairment of small vessels, especially capillaries. However, medium-sized vessels and small vessels with a vascular diameter larger than that of capillaries may also be impaired, causing atypical findings. We report a case of EGPA treated with corticosteroids, cyclophosphamide, and mepolizumab. Renal biopsy revealed vasculitis of the interlobular arteries as the cause of glomerulonephritis and interstitial nephritis...

Systemic lupus erythematosus (SLE) is an autoimmune, chronic, and heterogenous disease with organ damage resulting from immune complex deposition and inflammatory infiltrates. Antimalarial drugs, such as hydroxychloroquine (HCQ), are cornerstone immunomodulators for the treatment of SLE. Rarely, HCQ toxicity can occur, leading to devastating outcomes. We report a case of a patient with SLE on HCQ who presented with a rapid onset of large pericardial effusion and a dramatically decreased left ventricular ejection fraction...

Immune-mediated necrotizing myopathy is an uncommon but debilitating disease that can be triggered by drugs, toxins, or cancer. It is similar to polymyositis in presentation but is differentiated by findings on muscle biopsy. We present a case of a 79-year-old male on statin therapy who presented with proximal muscle weakness and elevated creatinine kinase (CK) levels. He had a confirmatory muscle biopsy for immune-mediated necrotizing myopathy. Unfortunately, the patient's condition eventually escalated, involving respiratory and esophageal muscles in spite of prompt diagnosis and treatment...

IgG4-related disease and granulomatosis with polyangiitis share several features as well as the presence of ANCA antibodies and serum IgG4 immunoglobulins. It is often difficult to distinguish between two entities. We hereby report the case of a patient portraying the clinical conundrum with clinical and biological features of the two diseases.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with unpredictable course and flares. The clinical manifestation can vary from mild to severe and life-threatening disease. Infection is the primary cause of mortality in hospitalized SLE patients. There is a paucity of evidence to support the co-management of SLE with major organ involvement and sepsis. We describe the clinical response of a 35-year-old male diagnosed with SLE; then, he developed severe sepsis and a flare of SLE with major organ involvement including lupus nephritis (LN), myocarditis, and neuropsychiatric systemic lupus erythematosus (NPSLE)...

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...

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...

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...

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...

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)...

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...