Modern rheumatology case reports最新文献

Behçet's disease (BD) is a multisystemic inflammatory disorder that can affect vessels of all sizes, often leading to significant vascular morbidity. We present the case of a 37-year-old man with BD who developed a rare and severe postoperative complication involving vascular graft invasion into the duodenum. The patient initially underwent emergency aortobiiliac bypass surgery for a ruptured abdominal aortic aneurysm. Subsequent evaluation revealed clinical features consistent with BD, and immunosuppressive treatment with corticosteroids and azathioprine was initiated; however, adherence was interrupted due to repeated abdominal surgeries. On follow-up, he presented with lower-extremity ischemia and gastrointestinal bleeding. Imaging revealed recurrent thrombotic event and, notably, a contrast-enhancing structure that raised suspicion of a vascular material. Endoscopic evaluation demonstrated vascular graft material protruding into the duodenal lumen with active bleeding. Urgent redo of aortobiiliac graft replacement and duodenal repair were performed. This complication was interpreted as a manifestation of an extended pathergy phenomenon, triggered by mechanical trauma from graft contact with the duodenum in the context of uncontrolled disease activity. Following postoperative stabilization, intensified immunosuppressive therapy with azathioprine and infliximab was administered, thereby preventing further vascular events and other severe manifestations. This case underscores the critical importance of adequate immunosuppressive control before vascular surgery in BD to reduce severe postoperative complications.

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory demyelinating disease primarily affecting the optic nerves and spinal cord. Polymyositis (PM) is an idiopathic inflammatory myopathy characterized by proximal muscle weakness. The anti-signal recognition particle (SRP) antibody is a myositis-specific autoantibody. We herein present a case of anti-SRP antibody-positive PM that developed 6 years after the onset of NMOSD. A 52-year-old woman was diagnosed with NMOSD 6 years previously based on left visual disturbance, a high signal intensity and contrast enhancement of the optic nerve on short τ inversion recovery (STIR)-magnetic resonance imaging (MRI), and anti-aquaporin 4 antibody positivity. She received methylprednisolone pulse therapy followed by oral prednisolone (PSL) at a starting dose of 40 mg daily. Three years later, due to recurrent numbness in the left lower limb and difficulty in reducing the PSL dose to ≤10 mg/day, satralizumab was initiated. At 52 years old, she developed myalgia and muscle weakness in both thighs. PM was diagnosed based on an elevated serum creatine kinase level, anti-SRP antibody positivity, high signal intensities in the right triceps and bilateral adductor muscles on STIR-MRI, and muscle biopsy findings. Treatment with high-dose PSL and tacrolimus markedly attenuated her symptoms. Satralizumab was continued for NMOSD stabilisation. Previous studies reported the coexistence of NMOSD and autoimmune diseases; however, NMOSD with PM/DM is rare. We described a case of NMOSD with anti-SRP antibody-positive PM and provided a literature review.

Granulomatosis with polyangiitis (GPA) is a small-to-medium vessel vasculitis usually presenting with upper airway, pulmonary, and renal involvement. Critical limb ischaemia (CLI) and arterial thrombosis are rare but severe complications of GPA, often resulting in poor prognosis and limb loss. We describe a 34-year-old woman presenting with right upper limb CLI on a background of GPA, manifesting as fever, purpura with upper airway, pulmonary, and renal involvement. Investigations confirmed proteinase-3 anti-neutrophil cytoplasmic antibody positivity, elevated inflammatory markers, proteinuria with active urinary sediment, and imaging revealed pulmonary infiltrates with sinus involvement. She received IV steroids and rituximab but developed acute limb-threatening ischaemia due to brachial artery thrombosis. Immediate thrombectomy with thrombolysis restored blood flow and prevented amputation. Available literature highlights the extreme rarity of CLI in GPA (<1%), with most reported cases resulting in limb loss despite immunosuppression. Prompt diagnosis using Doppler/angiogram and urgent surgical intervention, in conjunction with immunosuppression, is critical for limb salvage. This case underscores the importance of early recognition and combined surgical-medical management in GPA presenting with arterial thrombosis and CLI, which can successfully preserve limb function and improve outcomes.

Sclerosing mediastinitis (SM) is a rare condition characterised by extensive fibrous proliferation within the mediastinum. While some patients remain asymptomatic, others may present with chest pain, dyspnoea, haemoptysis, or complications such as superior vena cava syndrome or pulmonary hypertension. The aetiology of SM may be caused by infections, malignancies, autoimmune diseases, radiation therapy, or have idiopathic origins. We present a case of a 55-year-old man diagnosed with SM and granulomatosis with polyangiitis. The patient initially presented from an outside hospital with a large periaortic soft tissue mass, accompanied by symptoms of cough, shortness of breath, haemoptysis, and joint pain. Laboratory findings revealed elevated inflammatory markers and positive antineutrophil cytoplasmic antibody targeting proteinase-3. Imaging studies demonstrated abnormal mediastinal soft tissue encasing the thoracic aorta with subcarinal lymphadenopathy. Biopsy of the mass confirmed fibrotic tissue consistent with SM, and kidney biopsy revealed crescentic glomerulonephritis indicative of granulomatosis with polyangiitis. Treatment involved high-dose corticosteroids and rituximab, leading to significant improvement in overall patient status. The patient's follow-up revealed sustained remission, with resolution of lung infiltrates and decreased mediastinal mass size. Although the association between SM and antineutrophil cytoplasmic antibody-associated vasculitis remains unclear, our case highlights the importance of considering both diagnoses in a presentation of mediastinal fibrosis. Further research is warranted to clarify optimal management strategies for these rare conditions.

Neutrophilic dermatoses (NDs) are a heterogeneous group of inflammatory skin disorders marked by dense, sterile neutrophilic infiltrates. Rheumatoid neutrophilic dermatitis (RND), a rare subtype, is uniquely associated with rheumatoid arthritis (RA) and typically presents in patients with severe seropositive disease. Here, we report a rare case of bullous RND in a 67-year-old male with chronic seropositive nodular RA, temporally triggered by the interleukin-6 inhibitor tocilizumab. The patient developed a recurrent bullous eruption following successive tocilizumab infusions, confirmed by histopathology as RND. Despite corticosteroid therapy and colchicine, his symptoms persisted. Discontinuation of tocilizumab and initiation of etanercept resulted in rapid and sustained resolution of both cutaneous and articular symptoms. This case represents only the second reported incidence of tocilizumab-induced RND and one of very few cases demonstrating a steroid-refractory bullous phenotype that responded exclusively to TNF-α inhibition. It underscores the complex and sometimes paradoxical effects of biologics, which may both treat and trigger neutrophilic dermatoses. Our findings support the importance of recognising biologic-induced cutaneous adverse effects and tailoring management strategies accordingly. Early identification through skin biopsy, prompt discontinuation of the offending agent, and consideration of targeted immunomodulators such as tumour necrosis factor-alpha inhibitors are critical in managing drug-induced RND. Continued documentation of such cases will enhance understanding of paradoxical inflammatory responses to biologic agents and inform future therapeutic approaches in patients with autoimmune diseases.

The diagnostic criteria for TAFRO syndrome exclude autoimmune diseases, and they have been considered to be mutually independent. However, several cases of autoimmune diseases with TAFRO signs have been reported in recent years. Also, similarities in cytokine profiles in COVID-19 and TAFRO syndrome have been previously reported. Our patient, a 53-year-old Japanese man, was diagnosed with COVID-19 and had a persistent fever. Two weeks later, pain, numbness, and oedema appeared, mainly in the right lower leg but gradually spreading to the distal extremities. Subsequently, purpura appeared on his forearms and lower legs, and 10 weeks after the COVID-19 diagnosis he presented to our hospital. On admission, in addition to fever, polyangiitis, and purpura of the extremities, he had splenomegaly, lymphadenopathy, and anasarca. Skin and renal histopathology revealed fibrinoid necrotising vasculitis of small and medium-sized arteries. In addition, his platelet count was low, Alkaline phosphatase (ALP) was elevated, and there was anasarca, fever, and renal failure. A diagnosis of polyarteritis nodosa with TAFRO signs was made. On the 20th day of admission, high-dose glucocorticoids and high-dose intravenous cyclophosphamide were started. The platelet count initially improved, with gradual improvement of vasculitis and symptoms of fever, purpura, and neuropathy. However, there was another decrease in platelets, progression of renal dysfunction, and worsening of fluid retention. Tocilizumab was added, but the disease could not be controlled, and on the 51st day, necrotising fasciitis developed and the patient died. This case suggests that COVID-19, TAFRO syndrome, and vasculitis may be interrelated in their pathogeneses.

Aortitis is a rare but critical manifestation of systemic inflammatory disease, most commonly associated with large-vessel vasculitides such as Takayasu arteritis and giant cell arteritis. When accompanied by multiorgan inflammation and fibrosis, it presents a broader diagnostic challenge that includes immune-mediated conditions such as immunoglobulin G4-related disease (IgG4-RD) and rare histiocytic neoplasms. While IgG4-RD is increasingly recognised due to improved diagnostic criteria and access to immunostaining, histiocytic neoplasms such as Erdheim-Chester disease (ECD) remain underdiagnosed. ECD is a clonal histiocytic neoplasm driven by mutations in the mitogen-activated protein kinase pathway, with multisystem tissue infiltration and inflammation. Unlike IgG4-RD, ECD is amenable to targeted therapies. We present a diagnostically challenging case of a middle-aged woman referred with presumed IgG4-RD following five months of progressive retroperitoneal fibrosis, bilateral ureteric obstruction, weight loss, and fatigue. Further investigation revealed aortitis involving major branches, interstitial lung disease, and adrenal and pituitary involvement, but notably without skeletal disease. Omental biopsy confirmed ECD, with a pathogenic MAP2K1 mutation detected. This case highlights the diagnostic complexity of bone-sparing ECD, a phenotype present in fewer than five percent of cases. Its clinical mimicry of vasculitis and other inflammatory disorders can obscure the underlying neoplastic process, delaying diagnosis and access to effective treatment. In patients with systemic inflammation and inconclusive serology, early consideration of ECD is essential to guide appropriate investigations and timely therapy.

Coxitis with rapid hip chondrolysis in juvenile patients requires careful diagnosis and treatment. This report describes a case that was initially diagnosed as idiopathic hip chondrolysis but finally diagnosed as enthesis-related juvenile idiopathic arthritis (JIA). Case: A 15-year-old boy complained of bilateral hip pain and difficulty in walking. Initially, a diagnosis of idiopathic hip chondrolysis was made based on the imaging findings of centralised joint space narrowing on plain radiography and high-signal areas in the femoral head and acetabulum on T2-weighted fat-suppressed magnetic resonance imaging (MRI) without joint effusion. After the patient was admitted to our hospital, a diagnosis of enthesis-related JIA was made. Enthesis-related JIA was suspected based on arthritic changes in the sacroiliac joints that were detected incidentally during computed tomography and MRI. After initiating adalimumab administration, MRI revealed the disappearance of abnormalities in the acetabulum and femoral head. Moreover, the hip pain and contracture gradually improved, and the patient could return to daily activities without pain. Our report highlights the importance of awareness regarding the possibility of enthesis-related JIA in juvenile patients presenting with coxitis and rapid chondrolysis of the hip joint without joint effusion.

Rheumatoid vasculitis (RV) is an extra-articular complication characterised by small-to-medium vessel vasculitis associated with rheumatoid arthritis, leading to various organ involvements. However, there are few reports of RV associated with aneurysms causing intra-abdominal haemorrhage. Although the incidence of RV has recently decreased, its prognosis remains poor. We herein report a case of RV in a patient with a 1.5-year history of treatment for late-onset rheumatoid arthritis. The patient died of intrahepatic haemorrhage caused by the rupture of a hepatic artery aneurysm. RV can be challenging to diagnose clinically and is sometimes only identified at autopsy. When inflammatory findings arise that do not correspond to the activity of arthritis, careful differential diagnosis is essential.

Scurvy, a disease caused by vitamin C deficiency, is now uncommon in developed countries with ample food resources. We present the case of a 28-year-old man with no significant past medical history who presented with lower extremity petechiae, initially raising suspicion for vasculitis. Although his skin biopsy findings were consistent with vasculitis, based on the characteristic perifollicular distribution of the purpura, the presence of corkscrew hairs, and the finding of a subfascial haematoma of the gastrocnemius muscle, which raised suspicion for a bleeding tendency, led us to suspect scurvy. A detailed dietary history revealed that he had consumed an imbalanced diet with no intake of fresh fruits or vegetables for more than 6 months. Serum ascorbic acid concentration was measured to be < 0.2 μg/ml, confirming the diagnosis of scurvy. In conclusion, scurvy can occur even in healthy young individuals without prior medical history living in developed countries and can present to rheumatologists as a mimic of vasculitis. It should be considered in the differential diagnosis of vasculitis, and a detailed dietary history should be obtained when suspected.