Modern rheumatology case reports最新文献

Percutaneous conchotome muscle biopsy, a semi-open technique, provides significant diagnostic yields especially for inflammatory myopathies. In patients with small vessel vasculitis, muscle involvement could sometimes be sole or most prominent organ involvement. While open muscle biopsy has been reported to be useful for diagnosis of vasculitis, diagnostic utility with conchotome muscle biopsy for vasculitis remains unclear. Here we report four cases in which conchotome muscle biopsy made a significant contribution to their diagnosis of small vessel vasculitis. All cases presented with myalgia and weakness at the onset of their diseases and with elevation of myeloperoxidase anti-neutrophil cytoplasmic antibodies (MPO-ANCA). Pathological examination of muscle tissues revealed the significant inflammatory infiltration with fibrinoid necrosis in perimysial arterioles measuring 50-100 mm in diameter in all of four cases. Disruption of elastic plates of arterioles was found with Elastica van Gieson staining in three cases. Low levels of patients' pain evaluated with visual analogue scale (0-100) ranging 0-30 and no occurrence of adverse events in our cases indicated the safety of this technique. All patients were treated successfully with glucocorticoid with or without immunosuppressants. Conchotome muscle biopsy could yield the pathological features of small vessel vasculitis with minimal invasiveness.

Background: Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis characterized by asthma, eosinophilia, and multi-organ involvement. Diffuse alveolar hemorrhage (DAH) is an uncommon but life-threatening pulmonary complication in EGPA.

Case presentation: We report a 49-year-old previously healthy woman who presented initially with asthma-like symptoms and later developed fever, hemoptysis, cutaneous purpura, and periorbital edema. Laboratory evaluation revealed marked eosinophilia, anemia, elevated inflammatory markers, and strongly positive MPO-ANCA. Bronchoalveolar lavage fluid (BALF) was hemorrhagic and contained hemosiderin-laden macrophages, indicating DAH. Broad-spectrum antibiotics were empirically initiated but discontinued after metagenomic next-generation sequencing (mNGS) of BALF excluded infection. Bone marrow biopsy showed eosinophilic hyperplasia without clonal mutations. A diagnosis of MPO-ANCA positive EGPA with DAH was established. The patient received pulse methylprednisolone, prednisone, intravenous immunoglobulin, mepolizumab, and rituximab. Clinical symptoms improved rapidly, and radiological signs of alveolar hemorrhage nearly resolved within days.

Conclusion: Our case illustrates that integration of rituximab and mepolizumab with corticosteroids can achieve rapid remission and steroid sparing in EGPA-DAH. While evidence remains limited to case reports and small series, targeted biologics may fundamentally improve outcomes in this high-risk subset. Prospective studies are warranted to define optimal treatment strategies.

Osteonecrosis of the femoral head is typically limited to the femoral head; extension to the greater trochanter is exceedingly rare and poses challenges for femoral stem selection. We describe a 61-year-old man with right hip pain, a history of corticosteroid therapy, and habitual alcohol consumption-both established risk factors for osteonecrosis. Radiographs showed femoral head collapse, and contrast-enhanced magnetic resonance imaging revealed poor enhancement extending to the greater trochanter. The patient underwent total hip arthroplasty with a Wagner SL revision stem. Histological analysis confirmed necrosis in the femoral head and greater trochanter. At 10 months, the patient demonstrated stable radiographic fixation and favorable short-term recovery. This rare presentation of osteonecrosis extending to the greater trochanter highlights the value of a distally fixed stem in achieving stable fixation.

Axial spondyloarthritis (axSpA) is a chronic inflammatory disease that primarily affects the sacroiliac joints and spine, leading to progressive structural changes. The clinical course of axSpA is heterogeneous, and cases of rapid structural progression over a relatively short period have been reported. With the advent of biologic agents, it is now possible to suppress structural damage, highlighting the importance of early diagnosis and treatment. However, reports describing the early features of rapidly progressive axSpA are limited. We report the case of a 55-year-old man who presented with low back pain following a fall. Imaging revealed a vertebral fracture at T12/L1 and a bamboo spine, and he underwent percutaneous posterior fixation. Sacroiliac joint ankylosis was also observed, and a diagnosis of ankylosing spondylitis (AS) was made. The patient had visited our hospital nine years earlier for low back pain. At that time, MRI showed diffuse bone marrow edema (BME) across multiple vertebrae and depression of the vertebral endplates. However, the edema was not localized to vertebral corners, and the findings were interpreted as Schmorl's nodes with surrounding edema. Based on the current findings, the previous imaging was retrospectively interpreted as an early sign of axSpA. This case highlights that diffuse vertebral BME without typical corner lesions may signal rapidly progressive axSpA. Recognition of such atypical early imaging features is critical to ensure timely diagnosis and management.

Inclusion body myositis and immune-mediated necrotizing myopathy are inflammatory myopathies characterized by specific clinical and pathological features. Inclusion body myositis is associated with human immunodeficiency virus infection, whereas immune-mediated necrotizing myopathy is extremely rare in individuals positive for human immunodeficiency virus. To date, no reports have described the coexistence of immune-mediated necrotizing myopathy and inclusion body myositis-like pathological features in patients positive for human immunodeficiency virus. Herein, we report a rare case of a 40-year-old man with human immunodeficiency virus-associated subacute progressive myopathy presenting with simultaneous proximal and distal muscle weakness, dysphagia, and markedly elevated creatine kinase levels. Serological testing revealed strong positivity for anti-signal recognition particle antibodies. Muscle biopsy revealed coexisting pathological features suggesting both immune-mediated necrotizing myopathy and inclusion body myositis. The patient showed insufficient response to antiretroviral therapy and glucocorticoids; however, intravenous immunoglobulin therapy resulted in a marked clinical response. This case highlights the possible coexistence of immune-mediated necrotizing myopathy and inclusion body myositis-like pathology in the context of human immunodeficiency virus infection and provides insights into the pathophysiology of human immunodeficiency virus-associated myopathy. Furthermore, this report suggests the potential effectiveness of intravenous immunoglobulin treatment in such cases.

Background: Secondary Raynaud's phenomenon in limited cutaneous systemic sclerosis is driven by structural microvascular disease and is frequently accompanied by hand oedema, stiffness, and functional disability. Evidence for pragmatic physiotherapy approaches addressing both vascular symptoms and soft-tissue involvement remains limited.

Case: A 66-year-old man with limited cutaneous systemic sclerosis (diagnosed 2009) and long-standing triphasic Raynaud's symptoms reported cold-induced digital pain, recurrent fissures with prior ulceration, puffy hands, reduced finger range of motion, and impaired fine motor function despite stable therapy, including intravenous prostacyclin every two weeks. Outcomes at baseline (November 2024), post-intervention (April 2025), and follow-up (December 2025) included the Raynaud's Condition Score, QuickDASH, ScleroID, COMPASS-31, and HAMIS.

Intervention: The patient completed a structured Neurofascialvascular Training programme comprising 24 supervised 30-minute sessions (November 2024-April 2025) with home practice on non-clinic days, followed by a home-only programme (30 minutes/day) through follow-up; adherence was monitored with an exercise log.

Outcomes: Symptom burden and hand function improved from baseline to post-intervention and were largely maintained at follow-up, with shorter typical Raynaud's episodes and better hand mobility and disability scores. About 5% of prescribed home sessions were missed. Infrared thermography and clinical photographs were used descriptively to show acute pre-post session thermal changes and longitudinal reductions in puffiness and colour changes; follow-up images were obtained in December (cold season).

Conclusion: This case suggests that a Neurofascialvascular Training programme was feasible and was associated with sustained improvement in Raynaud-related burden and hand function, warranting prospective controlled evaluation.

Hypereosinophilic Syndrome (HES) is a rare disorder characterized by persistent eosinophilia and multi-organ damage. While hepatic involvement is an uncommon complication, the underlying pathological mechanism driving tissue injury remains poorly understood, as conventional evidence of eosinophil degranulation is often difficult to ascertain in collagen-rich organs like the liver. We report a case of HES-associated liver injury that implicates Eosinophil ETosis (EETosis)-an active cytolytic cell death-in the pathogenic process. A patient presented with marked eosinophilia and elevated liver enzymes. Liver biopsy revealed dense eosinophilic infiltration. Critically, double immunostaining for Galectin-10 and Major Basic Protein (MBP) yielded the direct pathological evidence of EETosis within the liver tissue of an HES patient. Furthermore, the patient's peripheral blood eosinophils exhibited significant spontaneous ETosis in vitro, suggesting an inherent predisposition to tissue damage. This case demonstrates that eosinophil ETosis is a key pathogenic mechanism in HES-related hepatic injury. Our findings underscore the utility of combined Galectin-10 and MBP staining for the pathological diagnosis of eosinophil-mediated damage and suggest that spontaneous ETosis may serve as a novel biomarker for identifying HES patients at high risk of organ involvement, providing a rationale for targeting eosinophils ETosis in therapeutic strategies.

Dermatomyositis (DM) is classically associated with distinctive skin manifestations, such as Gottron's sign or heliotrope rash. Cases of DM without these skin manifestations-termed DM sine dermatitis (DMSD)-have recently been reported, with an increasing association with anti-nuclear matrix protein 2 (NXP-2) antibody. We report a 26-year-old Japanese man who presented with muscle weakness and myalgia but without the characteristic skin manifestations of DM. Laboratory findings showed only mildly elevated levels of myogenic enzymes, and initial screening for myositis-specific antibodies (MSAs) was negative. However, the muscle biopsy demonstrated necrotic and regenerative muscle fibres with perifascicular expression of myxovirus resistance A. The findings were consistent with DM. Further MSA testing revealed positivity for the anti-NXP-2 antibody, confirming the diagnosis of DMSD. This case presented a diagnostic challenge because of the absence of typical skin rashes and only mild elevation of myogenic enzymes. Clinicians should be aware of DMSD as a potential diagnosis, particularly in patients with muscle symptoms but lacking the characteristic DM skin manifestations. In a myositis diagnosis, proactive muscle biopsy and MSA testing, including the anti-NXP-2 antibody, are crucial for ensuring early diagnosis and treatment.

A 61-year-old Japanese woman with a 20-year-history of rheumatoid arthritis (RA) had been treated with various antirheumatic drugs including biologics and Janus kinase inhibitors. Subcutaneous methotrexate (MTX) was added to sarilumab, resulting in improvement in her joint tenderness. Six months later, however, while continuing both agents, she developed exertional dyspnea. Computed tomography revealed bilateral ground-glass opacities, and transbronchial lung cryobiopsy (TBLC) showed pathological findings consistent with MTX-induced pneumonitis. She responded rapidly to glucocorticoids, but subsequently developed recurrent episodes of RA-associated organizing pneumonia (RA-OP) despite discontinuation of MTX, which was evaluated by repeat bronchoscopy and supported the diagnosis of RA-OP, and prolonged glucocorticoid therapy was required. MTX-induced pneumonitis is a potentially life-threatening complication. This case demonstrates that subcutaneous MTX does not eliminate the risk of pneumonitis, that TBLC is a valuable diagnostic tool allowing clear pathological characterization with ample tissue to support confident pathologic diagnosis, and that the marked discrepancy in imaging supports that repeat bronchoscopy is warranted rather than avoided when new imaging points to an alternative diagnosis.

Excessive production of immunoglobulin light chains can result in amyloid light-chain (AL) amyloidosis, which manifests as arthritis in approximately 3.7% of cases. Myeloma-associated amyloid arthropathy (MAA), a musculoskeletal manifestation of AL amyloidosis, often mimics rheumatoid arthritis (RA), making accurate diagnosis challenging. Musculoskeletal ultrasonography (MSKUS) has emerged as a valuable tool in the differential diagnosis of arthralgia; however, the specific sonographic features of AL amyloidosis-related arthritis remain poorly characterized. We present a case of AL amyloidosis-associated arthritis initially misdiagnosed and treated as seronegative RA. A comprehensive diagnostic workup-including MSKUS, magnetic resonance imaging, ultrasound-guided biopsy of the left shoulder joint, and systemic evaluations such as serum and urine protein electrophoresis and bone marrow examination-led to a definitive diagnosis of AL amyloidosis secondary to multiple myeloma. This case highlights the need to consider AL amyloidosis in the differential diagnosis of atypical arthritis, particularly in seronegative patients with poor response to RA therapies, involvement of non-classical joints, or systemic manifestations such as proteinuria or peripheral neuropathy. Although not diagnostic on its own, MSKUS may reveal atypical synovial changes suggestive of amyloid deposition and assist in guiding targeted biopsies, which remain essential for definitive diagnosis. Notably, this case demonstrated positive power Doppler signals, in contrast to previous reports, suggesting a broader spectrum of ultrasonographic findings in amyloid arthropathy than previously recognized.