Modern rheumatology case reports最新文献

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.

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.

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.

Sclerosing mediastinitis (SM) is a rare condition characterized by extensive fibrous proliferation within the mediastinum. While some patients remain asymptomatic, others may present with chest pain, dyspnea, hemoptysis, or complications such as superior vena cava syndrome or pulmonary hypertension. The etiology 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 (GPA). The patient initially presented from an outside hospital with a large periaortic soft tissue mass, accompanied by symptoms of cough, shortness of breath, hemoptysis, and joint pain. Laboratory findings revealed elevated inflammatory markers and positive antineutrophil cytoplasmic antibody (ANCA) antibodies 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 GPA. 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 ANCA-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.

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 edema 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 necrotizing vasculitis of small and medium-sized arteries. In addition, his platelet count was low, 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, necrotizing fasciitis developed and the patient died. This case suggests that COVID-19, TAFRO syndrome and vasculitis may be interrelated in their pathogeneses.

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.

Although other iatrogenic immunodeficiency-associated lymphoproliferative disorders (OIIA-LPDs) are rare, they are important adverse effects of immunosuppressive therapies. Even though anti-melanoma differentiation association gene 5 (MDA5) antibody-positive dermatomyositis requires multidrug immunosuppressive therapy for interstitial pneumonia control, OIIA-LPD has rarely been reported. Moreover, central nervous system (CNS) OIIA-LPD has never been documented. Here, we report a case of CNS OIIA-LPD that may have been caused by treatment for MDA5 antibody-positive dermatomyositis. A 53-year-old woman was diagnosed with MDA5 dermatomyositis and treated for rapidly progressive interstitial lung disease using multidrug immunosuppressive therapy with prednisolone (PSL), tacrolimus, and intravenous cyclophosphamide pulse therapy. Seven months after treatment initiation, vomiting led to the discovery of a cerebellar tumour. The cerebellar tumour was histologically Epstein-Barr virus (EBV)-encoded small RNA-positive diffuse large B-cell lymphoma, with EBV-DNA being positive in the blood. The patient was diagnosed with OIIA-LPDs due to EBV reactivation. Chemotherapy, including high-dose methotrexate (MTX) and rituximab, prevented tumour recurrence without exacerbating interstitial lung disease. This is the first reported case of CNS OIIA-LPD with multidrug immunosuppression in a patient with MDA5 dermatomyositis. Chemotherapy, including high-dose MTX and rituximab, can be used for central OIIA-LPD without aggravating settled interstitial lung disease. The activity of MDA5 dermatomyositis during OIIA-LPD treatment may be managed with low-dose PSL.

Iguratimod is a novel oral disease-modifying antirheumatic drug (DMARD) utilised for rheumatoid arthritis, characterised by a favourable safety profile and infrequent instances of hypersensitivity, predominantly mild and cutaneous in nature. This report describes what appears to be the first reported case of severe, noncutaneous anaphylaxis following a first oral dose of iguratimod. A 37-year-old woman with seropositive rheumatoid arthritis, previously stable on methotrexate, experienced acute respiratory distress, hypotension, and new-onset atrial fibrillation within 3 hours of her initial iguratimod dose. She had never experienced a medication allergy before. Examination indicated significant hypoxia and cardiovascular instability. Anaphylaxis was validated by increased serum tryptase levels. Immediate treatment included injectable epinephrine, corticosteroids, fluid resuscitation, and mechanical ventilation. Electrical cardioversion was necessary to treat atrial fibrillation. The patient was stabilised with intensive care and was discharged without complications. This case demonstrates a rare but dramatic adverse reaction to iguratimod, emphasising the necessity of including anaphylaxis in the differential diagnosis of acute cardiorespiratory collapse, even in the absence of skin signs. Clinicians must recognise that novel immunomodulatory drugs may provoke severe allergic reactions and ensure that suitable precautions and emergency protocols are established prior to commencing such therapies.