Modern rheumatology case reports最新文献

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.

Haematological manifestations of immunoglobulin (Ig)G4-related disease (IgG4-RD) are atypical, and few studies have addressed cytopenia in this condition. We present here a case of IgG4-RD with marked pancytopenia and splenomegaly in the absence of bone marrow abnormalities. A 67-year-old woman developed diplopia, dyspnoea, pancytopenia, and hypocomplementemia. Contrast-enhanced computed tomography showed bilateral lacrimal and submandibular gland swelling, enlargement of the cervical, mediastinal, inguinal, and para-aortic lymph nodes, splenomegaly, and granular shadows in both lungs. She had been referred to our hospital on suspicion of malignant lymphoma, but a lymph node biopsy indicated the possibility of IgG4-RD. A lacrimal gland biopsy showed infiltration of numerous lymphocytes and IgG4-positive plasma cells along with mild fibrosis. A bone marrow biopsy showed normocellular marrow with no increase in plasma cells. The IgG4-positive plasma cell count was 4 per high-power field, with an IgG4/IgG ratio of 10%. After excluding potential mimics, the diagnosis was IgG4-RD presenting with pancytopenia and splenomegaly. Prednisolone was initiated at 40 mg/day, leading to the rapid normalisation of pancytopenia, recovery of complement levels, and resolution of other organ involvement such as splenomegaly. Physicians should keep in mind that IgG4-RD can present with pancytopenia and splenomegaly.

Central nervous system involvement in vasculitis disorders, either primary or secondary, is a heterogeneous and challenging area in rheumatology clinical in terms of both diagnostics and therapeutics. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, difficult-to-diagnose, and ill-defined clinical entity caused by mutations at the TREX1 gene without effective treatment options. We hereby present a 50-year-old male patient with non-alcoholic fatty liver disease, hypertension, bilateral type III macular telangiectasia, and stage II chronic kidney disease with mild proteinuria presenting to the rheumatology clinic with various neurological symptoms accompanied by multiple contrast-enhancing cerebral lesions on magnetic resonance imaging. Even though RVCL-S is not an inflammatory vasculopathy, our patient has partially responded to high-dose corticosteroid and cyclophosphamide in terms of clinical status and radiological evaluation. This case report not only highlights the importance of consideration of RVCL-S in the differential diagnosis of central nervous system vasculitis-like disorders but also emphasises the potential use of certain immunosuppressive medications in the therapeutic perspective.

Psoriatic arthritis is a chronic inflammatory disease associated with psoriasis, and its diagnosis can be challenging owing to nonspecific symptoms, absence of reliable biomarkers, and occasional delay in skin manifestations. Herein, we report a case of psoriatic arthritis that initially presented as an acute finger inflammation mimicking infection. A 46-year-old woman developed sudden swelling and pain in the left ring finger during chemotherapy for cervical cancer. Based on the results of the physical examination, laboratory tests, and magnetic resonance imaging, pyogenic flexor tenosynovitis was suspected, and synovectomy was performed; however, bacterial and mycobacterial cultures yielded negative results. Despite the administration of antibiotics, the inflammation persisted, and she was referred to the Rheumatology Department, where she was diagnosed with reactive arthritis secondary to Chlamydia infection. Although the inflammation improved after antimicrobial therapy, the finger swelling persisted. Follow-up magnetic resonance imaging and serological testing were performed, and the patient was diagnosed with seronegative rheumatoid arthritis. Four years after onset, erythematous skin lesions appeared, and dermatological evaluation confirmed plaque psoriasis; thus, a definitive diagnosis of psoriatic arthritis was established. Disease-modifying antirheumatic drug adjustments improved symptoms, but residual 'pencil-in-cup' deformity and limited finger motion remained. This case highlights the difficulty in diagnosing psoriatic arthritis when arthritis precedes skin lesions. Clinicians should consider psoriatic arthritis in persistent or refractory arthritis and carefully monitor skin and nail changes to achieve an earlier diagnosis and prevent irreversible joint damage.

Thrombotic microangiopathy (TMA) is a rare but life-threatening complication in idiopathic inflammatory myopathies. Although TMA has been increasingly recognised in anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis, it remains exceptionally uncommon in anti-signal recognition particle (SRP) antibody-positive immune-mediated necrotising myopathy (IMNM). We describe a 62-year-old woman with anti-SRP antibody-positive IMNM who developed rapidly progressive TMA shortly after the initiation of immunosuppressive therapy, including tacrolimus. At presentation, she exhibited early proteinuria, severe myositis activity, and markedly elevated creatine kinase levels. Despite prompt high-dose corticosteroids, rapid withdrawal of tacrolimus, plasma exchange, intravenous immunoglobulin, and rituximab, her TMA progressed to dialysis-dependent acute kidney failure, although she ultimately survived and was successfully weaned from mechanical ventilation. To our knowledge, this represents only the second reported case of TMA associated with anti-signal recognition particle antibody-positive IMNM. Patients with highly active IMNM and early renal involvement may be particularly vulnerable to calcineurin inhibitor-associated TMA, and clinicians should exercise caution when introducing these agents in such settings. Early recognition of proteinuria, thrombocytopenia, and laboratory features of hemolysis may facilitate a timely diagnosis and guide appropriate therapeutic intervention.

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 a 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 stabilisation, 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.

Polyarteritis nodosa (PAN) is a systemic necrotising vasculitis of medium-sized arteries, often challenging to differentiate from other autoimmune and thrombotic disorders due to overlapping clinical features. This case-based literature review describes a 56-year-old male with a prior diagnosis of catastrophic antiphospholipid syndrome who presented with digital ischemia, myalgias, and a progressive cutaneous rash. Despite initial treatment with anticoagulation, symptoms persisted, and a skin biopsy ultimately revealed medium-vessel vasculitis consistent with PAN. Muscle biopsy was inconclusive, underscoring the difficulty of diagnosis in the setting of coexisting vasculopathies. This case illustrates the diagnostic complexity at the intersection of inflammatory and thrombotic syndromes and highlights the potential for concurrent or misclassified disease. A review of literature reveals rare but documented associations between PAN and antiphospholipid syndrome, yet no diagnostic tool for differentiation exists. Early recognition and accurate differentiation are critical to optimise outcomes in such overlapping syndromes. Future studies should evaluate a possible differentiation score or explore further diagnostics to help differentiate these inflammatory and thrombotic syndromes to better recognise and treat these conditions.

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.