We report the case of a 30-year-old Somali female with mixed connective tissue disease (MCTD) who developed dermatomyositis and both scleroderma renal crisis (SRC) and fatal cardiac complications. Notably, she tested positive for both anti-U3 RNP and anti-RNA polymerase III antibodies which is a rare serologic combination. After initial treatment with corticosteroids for dermatomyositis features, she experienced rapid clinical deterioration marked by malignant hypertension and thrombotic microangiopathy and was found to have SRC and diffuse myocardial fibrosis. Despite treatment with captopril and hemodialysis, she ultimately died of cardiac arrest. This case highlights the complexity and risks in managing patients with overlapping autoantibodies and underscores the need for close monitoring and cautious use of steroids in such high-risk individuals.
Childhood-onset Takayasu arteritis is rare, and data on outcomes beyond two or 3 decades are exceptionally limited. We report one of the longest documented follow-up observations of childhood-onset Takayasu arteritis, spanning more than 4 decades. The disease began at 9 years of age, and the patient was diagnosed with morphologically confirmed Type III Takayasu arteritis at the age of 16 years. She underwent renal vascular angioplasty and prosthetic reconstruction of the abdominal aorta for left renal artery occlusion associated with severe renovascular hypertension. In 2010, progression of supraaortic vascular disease required aortocarotid bypass surgery, followed six months later by left nephrectomy for persistent severe hypertension. Long-term medical management included individualized intermittent treatment with low-dose prednisolone and methotrexate. Despite extensive vascular involvement, the clinical course was characterized by gradual stabilization, progressively longer periods of clinical stability, and preservation of functional independence. Recent laboratory findings demonstrated only mild elevations in inflammatory markers, while vascular imaging showed chronic extensive arterial lesions with well-developed collateral circulation, preserved cardiac function, and preserved function of the solitary right kidney. The favorable long-term course was likely multifactorial, reflecting staged vascular reconstruction, individualized medical management, and adaptive collateral circulation. This case provides rare insight into the long-term evolution and management of severe childhood-onset Takayasu arteritis.
Crowned dens syndrome (CDS) is a type of calcium pyrophosphate deposition disease that causes inflammation and pain due to calcium deposition in the odontoid process. Patients typically present with acute cervical pain often associated with fevers, elevated ESR and CRP, and leukocytosis. This presentation has a broad differential and raises concern for diagnoses such as giant cell arteritis and meningitis. In this case report, we describe a patient with classic CT scan findings of odontoid calcifications diagnosed with treatment-refractory CDS.
Overlap myositis refers to the simultaneous occurrence of myositis and another systemic autoimmune disease. Association between psoriasis and inflammatory myopathy is uncommon. Tumor necrosis factor (TNF)-alpha antagonists are used to treat patients with psoriasis and arthritis associated with psoriasis. Although the use of TNF-alpha-blocking agents increases the risk of developing myopathy more than 4 times in people with psoriasis, this association is underrecognized. Here, we describe the case of a young male who developed inflammatory myopathy after the use of TNF-alpha blocking therapy for the treatment of psoriasis, associated with cN-1A and NXP2 autoantibodies. After cessation of the TNF-alpha blocking agent and pulse corticosteroid therapy, the patient showed a good response, with increased muscle strength and decreased creatine kinase levels. This case highlights the importance of monitoring for muscle symptoms in patients treated with anti-TNF-alpha agents and the heterogeneous clinical phenotypes that can occur with each autoantibody.
Recurrent pericarditis and serositis pose a significant diagnostic challenge in patients with end-stage renal disease (ESRD) and a history of extensive immunosuppression. A 29-year-old man with anuric ESRD secondary to IgA nephropathy on intermittent hemodialysis, with a history of 2 failed kidney transplantations followed by posttransplant nephrectomies and recent withdrawal of immunosuppression, presented with recurrent fevers, pericarditis, pleural effusions, and pericardial effusions. Fevers were unresponsive to multiple courses of broad-spectrum antibiotics. A broad malignancy workup, including imaging, PET scan, cytology, and microbial cell-free DNA was unremarkable. Multiple rounds of blood, pleural fluid, and pericardial fluid studies were negative for infectious etiologies, and serologic studies were unremarkable. Given the negative workup and clinical response to anti-inflammatory therapy, his presentation was most consistent with an IL-1-mediated autoinflammatory phenotype such as idiopathic recurrent pericarditis or undifferentiated systemic autoinflammatory disorder. Rilonacept was attempted as an IL-1-targeted alternative because of long-term colchicine toxicity concerns in ESRD; however, exposure was limited, and sustained disease control occurred after resumption of colchicine. This case highlights the need for further study of IL-1 inhibitor use in ESRD patients, a population with limited representation in landmark recurrent pericarditis trials such as RHAPSODY and AIRTRIP.
Systemic sclerosis (scleroderma) can manifest with advanced symptoms of ischemic vasculopathy, including digital ulcer development. These ulcerations can be disabling and detrimental to a patient’s quality of life, so prompt diagnosis, differentiation from other vascular etiologies, and treatment are important to help salvage this tissue. However, diagnosis of scleroderma can be challenging in the setting of seronegative disease. Nailfold capillaroscopy is a vital tool that can assist with diagnosis in seronegative cases. Scleroderma pattern findings on nailfold capillaroscopy include dilated or giant capillaries, capillary hemorrhages, and dropouts. Pharmacologic and surgical modalities can effectively treat vascular complications from scleroderma. Vasodilation therapy with prostacyclin analogs, calcium channel blockers, or angiotensin II receptor blockers can improve ischemic tissue perfusion. Surgical sympathectomy should be offered to treat ulcerative tissue and improve related pain control. We present a case of seronegative scleroderma in a patient with digital ischemic ulcerations that was expediently diagnosed and treated with assistance of nailfold capillaroscopy.
Systemic sclerosis, a rare autoimmune disease in children, frequently presents with aggressive clinical features and high risk of interstitial lung disease. Tocilizumab, an anti-interleukin-6 receptor monoclonal antibody, has exhibited efficacy in adult systemic sclerosis with interstitial lung disease; however, evidence in pediatric cases remains extremely limited. We report a 12-year-old Japanese girl who developed early-stage juvenile systemic sclerosis with interstitial lung disease, presenting with Raynaud's phenomenon, puffy fingers, positive anti-topoisomerase I antibody, reduced pulmonary function, and ground-glass opacities on high-resolution computed tomography. Consequently, tocilizumab monotherapy was initiated. During a follow-up period of over 3 years, her pulmonary function remained stable, and high-resolution computed tomography showed partial resolution of interstitial changes. No significant adverse events, such as severe infections or cytopenias, were observed. Early tocilizumab initiation may represent a potential therapeutic option for juvenile systemic sclerosis with interstitial lung disease. However, further studies are warranted to validate its role and optimize treatment guidelines for this rare but severe condition.
Introduction:Cardiovascular complications represent a major source of morbidity and mortality in systemic lupus erythematosus (SLE). While pericarditis is common, acute myopericarditis leading to significant systolic dysfunction is a less frequent but potentially life-threatening manifestation. The diagnostic evaluation can be complicated by overlapping clinical features and the presence of underlying, undiagnosed comorbidities. Hereditary connective tissue disorders, such as Marfan syndrome, present their own spectrum of cardiovascular risks, and their coexistence with autoimmune diseases like SLE is rare and poses significant diagnostic and therapeutic challenges. Case Presentation:We present the case of a 32-year-old woman with a long-standing diagnosis of SLE who was admitted with new-onset heart failure. Her symptoms included progressive dyspnea and pleuritic chest pain. The initial workup revealed active systemic inflammation, a newly reduced left ventricular ejection fraction of 44%, and a significant fusiform aneurysm of the ascending aorta (4.4 cm) associated with a bicuspid aortic valve. Cardiac magnetic resonance imaging was highly suggestive of active myopericarditis. While the initial findings were attributed to her lupus, the significant aortopathy in a young patient, combined with high myopia and a slender build, prompted further investigation. A formal clinical evaluation confirmed a diagnosis of Marfan syndrome based on the revised Ghent nosology. The patient responded favorably to intensified immunosuppression for her myopericarditis and was concurrently started on guideline-directed medical therapy for her aortopathy. Conclusion:This case underscores the importance of maintaining a broad differential diagnosis in complex clinical presentations. The diagnosis of lupus myopericarditis was complicated and ultimately overshadowed by the unmasking of Marfan syndrome, a finding that fundamentally altered the patient's long-term prognosis and management strategy. This report highlights the critical need for a multidisciplinary approach and illustrates how a seemingly straightforward complication of a known disease can be the gateway to identifying a second, life-altering diagnosis.
Idiopathic inflammatory myopathies are, in some cases, refractory to all guideline-based treatments, posing a very difficult challenge in clinical practice. Janus kinase inhibitors are a rather new class of disease-modifying antirheumatic drugs that are approved for the treatment of rheumatoid arthritis, spondyloarthritis, and psoriatic arthritis, but have been used as an off-label treatment only in a very limited number of cases in inflammatory myopathies. In this case report, we present a middle-aged woman with severe muscle weakness and pain attributed to refractory myositis associated with anti-Jo-1 antibody. Despite multiple treatment attempts, which included all guideline-based immunosuppressants, the patient’s condition remained unresponsive. Initiation of tofacitinib therapy resulted in significant clinical improvement, normalization of creatinine kinase levels, and being possible to discontinue glucocorticoids. Our findings highlight the potential efficacy of tofacitinib in refractory inflammatory myopathies, and to our knowledge, our case is the first one to demonstrate the efficacy of a Janus kinase inhibitor in anti-Jo-1 positive myopathy without interstitial lung disease.
Background:Sulfasalazine is a widely used disease-modifying antirheumatic drug (DMARD) for inflammatory arthritis and is generally considered safe in pregnancy when co-prescribed with folic acid. However, its antifolate effects may influence folate metabolism, which is a recognised pathway associated with neural tube defects, particularly when folate supplementation is inadequate. Case Presentation:A 34-year-old woman conceived shortly after starting sulfasalazine without folic acid supplementation. Her pregnancy was complicated by fetal spina bifida and ventriculomegaly detected at 20 weeks' gestation, leading to termination. She had borderline-low serum folate before conception (3.7 μg/L). No other teratogenic exposures were identified. Conclusion:This case highlights the importance of preconception counselling and adherence to high-dose folic acid (5 mg daily) in women of childbearing potential receiving sulfasalazine. While causality cannot be inferred, it draws attention to a potentially modifiable factor within the multifactorial aetiology of neural tube defects. It also reinforces that medications regarded as safe in pregnancy may still be associated with preventable risk when recommended supplementation is omitted.
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by autoantibody production and immune complex deposition. Antiphospholipid syndrome (APS) is frequently associated with SLE and is characterized by arterial or venous thrombosis and pregnancy morbidity in the presence of persistent antiphospholipid antibodies. The coexistence of ankylosing spondylitis (AS) with SLE and APS is extremely rare. A 38-year-old woman was admitted to our clinic with gangrene of the right fifth toe and swelling of both knees. She had a previous diagnosis of AS based on inflammatory low back pain and radiographic evidence of bilateral Grade 4 sacroiliitis. Laboratory investigations revealed positive antinuclear antibody, anti-double-stranded DNA, and antiphospholipid antibodies, including lupus anticoagulant and anti-cardiolipin IgG. Renal biopsy performed due to proteinuria demonstrated mesangioproliferative lupus nephritis. Based on clinical, laboratory, and histopathological findings, the patient was diagnosed with coexisting AS, SLE, and APS. Considering the coexistence of these autoimmune diseases and the patient’s previous exposure to anti-tumor necrosis factor therapy, treatment with the interleukin-17 inhibitor secukinumab was initiated. The patient showed significant improvement in inflammatory back pain and arthritis during follow-up. To our knowledge, this is one of the rare reported cases of coexistence of AS, SLE, and APS treated with secukinumab.
Palmar fasciitis and polyarthritis is a rare paraneoplastic syndrome that is nonerosive and associated with a high mortality rate. Metastatic undifferentiated epithelial carcinoma of unknown primary was diagnosed in a 59-year-old man who simultaneously developed palmar fasciitis and polyarthritis. Bone radiographs showed erosive disease of the hands and feet and bony periostitis. Biopsy of an erosion showed dense fibrous tissue eroding articular cartilage. Immunofluorescence analysis of the palmar fascia showed diffuse IgG deposition. After radical neck dissection and prednisone therapy, the clinical findings stabilized and did not progress during the 28 years of follow-up. This case provides new information to the literature, including erosive disease with histopathologic findings, a rare tumor type, and immunoglobulin response in the palmar fascia and long survival.
Antisynthetase syndrome is a subtype of idiopathic inflammatory myopathy characterized by clinical manifestations that include myositis with a distinctive muscle biopsy pattern. Cardiac involvement has traditionally been considered a rare feature of this syndrome. Here, we report the case of a 63-year-old woman who initially presented with pericarditis.
Catastrophic antiphospholipid syndrome (CAPS) is a rare, life-threatening variant of antiphospholipid syndrome (APS) characterized by rapid, widespread thrombosis leading to multiorgan failure. Affecting less than 1% of APS patients, CAPS is associated with a high mortality rate of 30%-50%, necessitating prompt diagnosis and aggressive treatment. The mainstay of management includes anticoagulation, high-dose glucocorticoids, and plasma exchange or intravenous immunoglobulins, with biologic therapies such as rituximab and eculizumab reserved for refractory cases. We report a case of a 60-year-old male with a history of triple-antibody-positive APS complicated by recurrent diffuse alveolar hemorrhage (DAH), adrenal hemorrhage, chronic kidney disease, and superficial vein thrombosis. His condition progressed to CAPS approximately 5 years prior with a course complicated by heparin-induced thrombocytopenia. His condition stabilized with high-dose corticosteroids and rituximab therapy with sustained symptomatic improvement after 10 months of rituximab. This case highlights the complexity of CAPS diagnosis and management, in the context of DAH, emphasizing the importance of early recognition, multidisciplinary care, and individualized treatment strategies. Our patient's prolonged disease stabilization with rituximab underscores its potential role in long-term CAPS management. Further research is needed to refine treatment protocols and improve outcomes for this rare but life-threatening condition.
Lupus erythematosus panniculitis or lupus erythematosus profundus (LEP) is a rare manifestation of cutaneous lupus erythematosus, with an estimated prevalence of 2%-3% in those with either systemic lupus erythematosus (SLE) or discoid lupus erythematosus (DLE). LEP with involvement of the breasts is termed lupus mastitis (LM). Its presentation is heterogenous, with epidermal changes, erythema, violaceous skin changes, lipoatrophy, and ulceration with or without breast masses. LM may resemble breast malignancy; however, the clinical course, laboratory investigations, and imaging may often differentiate these. Should uncertainty still exist, LM may be confirmed on histopathology. LM is a chronic disease, and its natural course may include exacerbations and remissions. Antimalarial agents are the mainstay of treatment, whilst corticosteroids and cyclophosphamide have demonstrated utility. There is no standardized treatment protocol. We here present the case of a 50-year-old woman who was diagnosed with SLE and LM after several indeterminate breast biopsies with the intention of furthering awareness of this presentation.
Pseudogout or calcium pyrophosphate dihydrate deposition disease rarely occurs in the young. Known risk factors for pseudogout include age, previous surgery, trauma, metabolic conditions, and medications. Isotretinoin, a retinoid frequently used to control acne vulgaris, is known to cause arthralgia, arthritis, and myalgia. We describe a case of an adolescent using isotretinoin who presented with acute left upper extremity pain and weakness. Birefringent calcium pyrophosphate dihydrate crystals were seen on synovial fluid analysis. The patient's symptoms resolved after discontinuing isotretinoin. This is the first reported case of pseudogout in an adolescent on isotretinoin.
Giant cell arteritis is the most common primary systemic vasculitis among individuals over 50 years of age. It primarily affects large- and medium-size arteries and is not mediated by antibodies. One of the most recognizable and important symptoms of the disease is headache. The presence of headaches, along with other common cranial manifestations such as vision loss, jaw claudication, and scalp tenderness in the temporal arteries, can assist in diagnosing the condition. We present a complex case involving a 76-year-old male with prolonged headaches, a pituitary macroadenoma, and vestibular schwannoma. Initially, his headaches were attributed to his existing intracranial lesions; however, his symptoms continued to evolve. He continued to have headaches of varying intensity over 2 years, and subsequently developed diffuse scalp tenderness, visual disturbances, and tongue claudication. Input from various medical specialties expanded the differential diagnosis and raised the possibility of giant cell arteritis (GCA). Although the temporal artery biopsy did not reveal the classic giant cells typically associated with the condition, it supported the clinical diagnosis of GCA. Appropriate treatment with high-dose corticosteroids and anti-Interleukin 6 therapy resulted in the rapid resolution of his symptoms. This case emphasizes the importance of recognizing different types of headaches, maintaining a broad differential diagnosis, and thoroughly evaluating all clinical symptoms for timely diagnosis and treatment. It also highlights the significance of a multidisciplinary approach to ensure prompt diagnosis and to prevent irreversible complications, such as permanent vision loss.
Background: Nontuberculous Mycobacterium (NTM) infections affecting musculoskeletal structures are rare, particularly in patients with well-controlled rheumatoid arthritis (RA). This case is reported to highlight the potential risk of focal tenosynovitis due to Mycobacterium intracellulare following intra-articular glucocorticoid injection. Case presentation: A 79-year-old man with well-controlled RA developed tenosynovitis with bone destruction in the right index finger metacarpophalangeal joint following a single intra-articular injection of triamcinolone acetonide. Despite antibiotic treatment, the condition progressively worsened. Synovectomy revealed Mycobacterium intracellulare infection involving both flexor tendons, joint space, and bone marrow. The patient regularly engaged in gardening activities without protective gloves. Conclusion: This case highlights the importance of considering NTM infection in the differential diagnosis of persistent monoarthritis that worsens after intra-articular glucocorticoid injection, especially in patients with exposure risk factors such as gardening.
Giant cell arteritis (GCA), also known as temporal arteritis, is the most common systemic vasculitis in individuals over 50 and presents diagnostic challenges due to its nonspecific symptoms such as fever, headache, and fatigue. This case report describes the details of a male patient in his 70s who presented with recurrent intermittent fevers of unknown origin and was ultimately diagnosed with GCA after an extensive workup. His initial CT scans and lab tests were unremarkable. However, after a rheumatological workup displayed elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels, along with new symptoms of ataxia and headaches, a temporal artery biopsy (TAB) was performed and confirmed the patient had GCA. This case underscores the difficulty in diagnosing GCA primarily due to physician anchoring bias, particularly when typical symptoms are not present. The case also showcases the need for increased awareness and prompt evaluation of potential GCA symptoms to prevent severe complications. Public education as well as improved hospital protocols can lead to earlier detection and treatment of GCA, reducing the risk of morbidity.
Genital tuberculosis (GT) is a rare but significant extrapulmonary tuberculosis form, often mimicking ovarian malignancy. We report a case of a 58-year-old woman with Sjögren's syndrome and rheumatoid arthritis, previously treated with infliximab, who presented with abdominal distension, weight loss, night sweats, and intermittent abdominal pain. Initial imaging and elevated CA-125 levels suggested ovarian cancer. However, intraoperative findings revealed a frozen pelvis with granulomatous inflammation, caseating granulomas, and Langhans' giant cells. Histopathological analysis and RT-PCR confirmed GT coexisting with a serous cystadenoma. GT should be considered in the differential diagnosis of pelvic masses, especially in immunocompromised patients. This case emphasizes the importance of thorough diagnostic evaluation using molecular, serological, and imaging techniques to avoid misdiagnosis and unnecessary surgical interventions. Prompt initiation of antituberculosis treatment led to significant clinical improvement. Early and accurate diagnosis of GT is crucial to prevent morbidity associated with misdiagnosis and to provide effective treatment. This case underscores the need for heightened clinical awareness and multidisciplinary approaches in managing complex cases where GT mimics malignancy, ensuring optimal patient outcomes.
