Modern rheumatology case reports最新文献

We report the case of a 39-year-old man who was admitted for evaluation of enlarged lymph nodes. A lymph node biopsy showed CD68- and 1α-hydroxylase-positive non-caseating epithelioid granuloma. Sarcoidosis was diagnosed because of mildly elevated angiotensin-converting enzyme levels and hypercalcemia. We noted tattoos (which were created 10 years earlier) on the left upper arm and forearm. It was hypothesised that some component in the tattoos had triggered a systemic foreign body reaction by macrophages, resulting in sarcoidosis. Treatment with steroids was ineffective, but additional treatment with methotrexate plus adalimumab was successful.

We report a case of a 33-year-old woman presenting with facial erythema, pharyngitis, and progressive cervical lymphadenopathy with tongue, pharyngeal, and laryngeal edema. Laboratory evaluations revealed an elevated soluble interleukin-2 receptor level, positive antinuclear, double-stranded DNA, Sjögren's syndrome-related antigen A antibodies, and decreased complement levels. Salivary gland studies confirmed Sjögren's syndrome, and together with serological findings, the patient fulfilled criteria for systemic lupus erythematosus. Although Positron emission tomography-computed tomography findings raised suspicion for malignant lymphoma, a cervical lymph node biopsy demonstrated interfollicular expansion, proliferation of small blood vessels with prominent endothelial cells, and large immunoblasts, consistent with atypical lymphoplasmacytic and immunoblastic proliferation. Despite clinical evidence of angioedema on endoscopic examination, complement levels and C1-inhibitor activity were normal, suggesting a non-complement-mediated mechanism. The patient was initially treated with hydroxychloroquine for systemic lupus erythematosus; however, worsening symptoms required prednisolone therapy, leading to significant clinical improvement. Recurrence during steroid tapering was managed by adjusting the steroid dose and adding mycophenolate mofetil. This case emphasises the importance of comprehensive evaluation to differentiate atypical lymphoplasmacytic and immunoblastic proliferation from malignant lymphoma and to recognise atypical acquired angioedema in autoimmune disease.

Primary angiitis of the central nervous system (PACNS) is a rare inflammatory vasculitis localised to the central nervous system. Treatment of severe PACNS often includes glucocorticoids and cyclophosphamide; however, some cases exhibit resistance to glucocorticoids, leading to severe neurological sequelae. In this case report, a 14-year-old female patient presented with fever, headache, and short-term memory loss. Her blood test results showed no significant abnormalities. HLA-B51 and A26 were both positive. Cerebrospinal fluid examination showed no elevated interleukin-6. Brain magnetic resonance imaging with fluid-attenuated inversion recovery sequences demonstrated hyperintense signals in the bilateral basal ganglia, left thalamus, and insula. Contrast-enhanced T1-weighted imaging showed peripheral enhancement of the lesions. Given the possibility of a demyelinating disorder, glucocorticoids were administered. However, the patient remained febrile, and magnetic resonance imaging (MRI) revealed disease progression. To differentiate infectious and malignant diseases, a biopsy of the left thalamic lesion was performed. Histopathological examination revealed coexisting lymphocytic and granulocytic vasculitis affecting small arteries and arterioles. Based on the clinical course and laboratory results, the patient was diagnosed with PACNS. Despite intravenous immunoglobulin, intravenous cyclophosphamide, and rituximab, the patient became comatose, and the brain MRI worsened. Following infliximab, clinical symptoms and brain MRI improved. The clinical course suggests that infliximab was effective for this patient with glucocorticoid-resistant PACNS. As potential associations have been previously reported between HLA-B51/A26 and vasculitis in Behçet disease, our case may suggest a pathophysiological link between vascular-BD and a subset of PACNS, which may also explain the good clinical response to infliximab. Further research is warranted to address this hypothesis.

We report a rare case of severe osteolysis following metacarpophalangeal (MP) joint arthroplasty using silicone implants in a patient with rheumatoid arthritis. A 72-year-old woman presented with painless masses on the dorsum of the left hand 6 years after MP joint arthroplasty using Sutter-type silicone implants. Radiographic evaluation revealed implant-associated osteolysis and cortical perforation of the second to fifth metacarpals. Revision arthroplasty was performed using grommet-equipped Swanson-type silicone implants combined with synovectomy and iliac bone grafting for severe palmar bone loss. One year later, similar osteolysis occurred in the right hand, and revision arthroplasty was again performed using Swanson-type implants without the need for bone grafting. The postoperative course was uneventful, and no recurrence of osteolysis or implant-related complications was observed over a 7-year follow-up period. Silicone synovitis is a recognised complication of silicone implant arthroplasty, caused by wear debris triggering chronic inflammation and bone resorption. This case highlights the importance of early detection and intervention for implant-related osteolysis. In cases where bone defects remain manageable, revision with grommet-equipped silicone implants can be a viable and durable treatment option. Surgeons should be aware of this potentially severe complication, as delayed intervention may preclude the use of silicone implants altogether due to extensive bone loss.

IgG4-related disease (IgG4-RD) is a systemic fibroinflammatory condition characterised by distinctive histopathological features and diverse clinical presentations. Although it is frequently associated with bilateral swelling of the lacrimal and submandibular glands, it has occasionally been reported to affect adnexal tissues, such as infraorbital nerve enlargement (IONE), which has not yet been well recognised. A 54-year-old woman presented with purpura. Laboratory investigations revealed eosinophilia, elevated serum creatinine, hypergammaglobulinemia with markedly elevated serum IgG4 levels (2 924 mg/dl), and hypocomplementemia, along with increased levels of β2-microglobulin and N-acetyl-β-D-glucosaminidase in her urine. Computed tomography revealed the presence of bony tunnel-like structures bilaterally in the infraorbital region, measuring up to 12 mm in diameter. Renal biopsy showed bird's-eye pattern fibrosis and marked infiltration of IgG4-positive plasma cells within the tubulointerstitium. Although an infraorbital nerve biopsy was not performed, the patient was diagnosed with IgG4-RD with tubulointerstitial nephritis, clinically complicated by IONE. Treatment with high-dose glucocorticoids and rituximab led to improvement in the renal manifestations; however, IONE remained unchanged even after six months of treatment. This case highlights an important aspect of IONE in IgG4-RD and offers insights into its clinical diagnosis and management.

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an example of a rare non-inflammatory familial arthropathy inherited in an autosomal recessive manner. The proteoglycan 4 (PRG4) gene, located on chromosome 1q25-q31, is responsible for encoding a lubricating glycoprotein found in the synovial fluid and on the surface of articular cartilage. Pathogenic mutations in the PRG4 gene have been associated with CACP disease. The present study investigated the clinical and molecular findings of the patient with CACP. Whole-genome sequencing was performed in this patient to investigate the genomic variations. The case presented in this study is a 20-year-old male who was admitted to the clinic. He had swelling in his wrists and limited mobility in his elbows as well as a family history of anaemia. The patient was initially diagnosed with juvenile idiopathic arthritis (JIA). Further genetic testing revealed a homozygous frameshift variant in the PRG4 gene (C.1290del; p.T431Lfs*481), which was classified as likely pathogenic and consistent with a diagnosis of CACP. Although this specific variant has been previously reported in the literature, this study contributes to the existing body of knowledge by emphasising the importance of comprehensive genetic analysis in differentiating CACP from other childhood rheumatic diseases such as JIA. Additionally, we discuss its location in exon 7 and potential effects on gene expression, including the possibility of nonsense-mediated decay or a truncated protein product.

This report describes the case of an 85-year-old woman who was found to have seronegative rheumatoid arthritis during preoperative investigations for knee replacement surgery for osteoarthritis. Follow-up for knee osteoarthritis was continued for many years without any symptoms involving other joints. Before total knee arthroplasty for osteoarthritis, preoperative investigations revealed a highly inflammatory state. After differential diagnosis, seronegative rheumatoid arthritis was diagnosed. Even in preoperative investigations before total knee arthroplasty for very old patients with osteoarthritis, the possibility of rheumatoid arthritis developing should always be kept in mind.

Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis, is a rare antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis primarily affecting the respiratory tract and kidneys. Cardiac involvement in GPA, though uncommon, can lead to life-threatening arrhythmias like complete heart block (CHB). A 33-year-old male with a 12-year history of GPA presented with syncope, palpitations, and reduced consciousness. He had discontinued his medications 3 months earlier. Clinical findings included sensorineural hearing loss, saddle-nose deformity, chronic dacryocystitis, and sinonasal destruction, with no neurological findings. Electrocardiography revealed CHB, prompting temporary pacemaker placement. Echocardiography and coronary angiography excluded structural or ischaemic heart disease. Laboratory parameters and imaging findings supported the diagnosis of GPA relapse. After excluding infectious, metabolic, and drug-related causes of CHB, intravenous methylprednisolone and rituximab were administered. Within 48 hours of initiating glucocorticoids, CHB improved to a first-degree atrioventricular (AV) block, permitting pacemaker removal. After stabilization, cardiac MRI demonstrated mild biventricular dilation with preserved systolic function, absence of myocardial inflammation or fibrosis, and a minimal pericardial effusion. He was discharged on high-dose prednisolone and scheduled for rituximab, achieving complete symptom resolution and stable cardiac conduction at 1-month follow-up. This case and literature review highlight that early appropriate immunosuppression therapy can successfully reverse CHB without requiring permanent pacing. Patients with unexplained arrhythmias and signs of systemic inflammation should be evaluated early for GPA to guide timely treatment.

We report the successful use of methotrexate (MTX) and rituximab in a Taiwanese patient with anti-signal recognition particle (SRP) antibody-positive immune-mediated necrotizing myopathy (IMNM) refractory to conventional therapy. The patient was a 72-year-old Taiwanese woman. She had facial erythema, bilateral thigh muscle pain, dysphagia, and an abnormally high creatine kinase level and was admitted to our hospital. She tested positive for anti-SRP antibodies, lung ground-glass opacities on computed tomography, and a high signal in the muscle on magnetic resonance imaging of the thigh. Muscle biopsy revealed an absence of inflammatory cell infiltration and prominent necrotic and regenerative tissues. High-dose glucocorticoids, tacrolimus, and intravenous immunoglobulins were administered. Although the creatine kinase levels were temporarily decreased, tacrolimus induced thrombotic microangiopathy. The patient also developed dysphagia and respiratory muscle weakness, which required temporary positive-pressure ventilation. Rituximab was administered on Days 63, 74, 81, and 88, and then MTX was initiated. Dysphagia and respiratory and limb muscle weakness gradually improved, enabling glucocorticoid dose reduction. By Day 200, her creatine kinase level had improved, and she was weaned off the ventilator. Herein, we report the case of a Taiwanese East Asian patient with anti-SRP antibody-positive IMNM who was refractory to conventional therapy and was successfully treated with MTX and rituximab.

Juvenile chondrolysis of the hip is a rare condition characterised by the rapid loss of articular cartilage. Although several aetiologies have been proposed, chondrolysis following surgical resection of an osteoid osteoma in the hip has not been previously reported. This report aims to highlight the case of a 14-year-old boy with a 2-month history of persistent left hip pain, initially misdiagnosed as a stress fracture based on magnetic resonance imaging findings of bone marrow oedema in the femoral neck. Upon referral to our institutions, computed tomography imaging revealed a radiolucent nidus with central calcification, confirming the diagnosis of osteoid osteoma. En bloc resection of the lesion was performed via a medial approach, and histological examination confirmed the diagnosis. Although his hip pain initially resolved, it recurred 4 months postoperatively. Chondrolysis was diagnosed based on the recurrence of hip pain accompanied by restricted range of motion and joint space narrowing. A non-weight-bearing regimen with range-of-motion exercises was initiated. Over the following year, symptoms gradually improved, and joint space progressively widened. By the third postoperative year, the patient maintained near-normal hip function without pain. This case represents the first report of chondrolysis of the hip following open resection of an osteoid osteoma. Chondrolysis should be considered a potential complication after surgical treatment of osteoid osteoma of the hip. The underlying pathogenesis may involve a pro-inflammatory state triggered by surgical trauma and prostaglandin overproduction.