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.

Pyoderma gangrenosum (PG) is a rare chronic skin disease characterized by painful skin ulcers. There are no treatment guidelines for PG; however, systemic treatment is often administered. Recently, adalimumab (ADA), a fully human monoclonal antibody against tumour necrosis factor, was approved for the treatment of refractory PG in Japan. However, data are limited, and it is not clear whether ADA has the same effect on the treatment of PG in patients with systemic rheumatic disease (SRD), including rheumatoid arthritis (RA). In addition, the glucocorticoid-sparing effect of ADA in SRD patients with PG has not yet been clarified. Herein, we present two successful cases of RA with glucocorticoid-refractory PG on ADA treatment. Our report suggests that ADA may have a glucocorticoid-sparing effect on refractory PG in patients with RA.

IgG4-related disease (IgG4-RD) is an under-recognised multisystem inflammatory disorder that has several typical manifestations. Cardiac manifestations of IgG4-RD are well documented; however, they do not feature in the definition or diagnosis of IgG4-RD according to a recent consensus statement. The most well-recognised cardiac manifestation of IgG4-RD, pericardial disease, is outlined in this case report as the initial presenting pathology. In the present case, the diagnosis was delayed due to the relative obscurity of cardiac manifestations of IgG4-RD and exposed the patient to the risks of pericardiectomy.

Granulomatosis with polyangiitis (GPA) is a rare autoimmune vasculitis primarily affecting the respiratory tract and kidneys. This case report describes a severe and atypical presentation of GPA in a 42-year-old male, who initially presented with sudden onset of cough, myalgia, dysaesthesia, and lower limb oedema. Initial tests indicated elevated inflammatory markers and white blood cell count. Subsequent imaging revealed a suspicious pulmonary nodule, but the patient experienced a syncopal episode and myocardial infarction before scheduled surgery. Despite normal myocardial biopsy results and negative bacterial/viral tests, the patient developed ischaemic symptoms in the lower extremities, leading to severe limb ischaemia and amputation of the left distal third thigh. Few days later he developed renal involvement with proteinuria, haematuria, active urinary sediment, and rapidly progressive renal dysfunction. The clinical scenario and the detection of high-titre antineutrophil cytoplasmatic antibodies (ANCA) were highly suggestive for GPA; despite the lack of histological confirmation due to mandatory anticoagulant treatment for the recent myocardial event, treatment with methylprednisolone and rituximab was started and led to rapid clinical improvement. Subsequently histological analysis of the amputated leg confirmed necrotising vasculitis. This case highlights the importance of considering GPA in differential diagnoses involving multiorgan symptoms and underscores the complexities in diagnosing and managing this rare condition, especially when typical diagnostic biopsies are not feasible.

A 59-year-old man developed adult-onset Still's disease 11 days after contracting COVID-19. He presented with high fever, polyarthritis, erythema, sore throat, and high levels of C-reactive protein and ferritin; treatment with glucocorticoids and methotrexate led to disease remission. We reviewed the clinical characteristics of 12 cases (11 from the literature and the present case) of adult-onset Still's disease following COVID-19. Eight cases involved females, with a median age of 54 years (19-59 years), and the median time from COVID-19 to Still's disease onset was 12.5 days. Frequencies of high fever, arthralgia, typical skin lesion, sore throat, liver damage, and increased neutrophil count did not differ from cases of non-COVID-related adult-onset Still's disease. Serum ferritin levels were increased in all cases (median 6354 ng/ml). Complications were infrequent, with macrophage activation syndrome reported in one case. Immunosuppressive drugs and biologic agents were used in five and three cases, respectively, and all cases had good outcomes. Our review suggests that adult-onset Still's disease develops early after COVID-19, presenting with clinical findings similar to non-COVID-19-related cases, and has few severe complications and a good prognosis.

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.