Modern rheumatology case reports最新文献

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.

Peripheral neuropathy is a complication in systemic sclerosis (SSc) that is occasionally encountered in clinical settings. The mechanisms underlying this condition remain unclear and treatment strategies have not yet been established, making management challenging. Here, we report a case of peripheral neuropathy associated with SSc that was successfully treated with corticosteroid therapy despite the absence of conventional inflammatory findings on histopathology or blood tests. A 44-year-old Japanese man diagnosed with SSc presented with gradually worsening paresthesia and gait disorder. A nerve conduction study and histological examination of a biopsy sample from the left sural nerve, where the nerve conduction study indicated abnormalities, revealed findings consistent with peripheral neuropathy associated with SSc. The results of blood tests or cerebrospinal fluid analysis did not indicate significant inflammatory findings, aside from a slight elevation in protein levels in the cerebrospinal fluid. Similarly, the histological analysis of the nerve biopsy showed no signs of inflammation. T2-weighted magnetic resonance imaging of the lumbar region revealed hyperintensity at the nerve roots, suggesting inflammation at the nerve roots. Based on these findings, we initiated corticosteroid therapy, which led to an improvement in both the patient's symptoms and results in the nerve conduction study. This case provides new insights into the pathogenesis of peripheral neuropathy associated with SSc and highlights that the potential benefits of immunosuppressive therapy should not be overlooked, even in the absence of conventional inflammatory signs.

Jaccoud's arthropathy is a deforming, nonerosive form of arthritis initially described in patients with rheumatic fever. However, it has been recently observed more frequently in those with systemic lupus erythematosus. Cases of Jaccoud's arthropathy have also been described to be associated with other conditions. Herein, we describe the case of a 64-year-old Brazilian man who exhibited Jaccoud's arthropathy associated with leprosy. To the best of our knowledge, this is the first report on this association.

Juvenile dermatomyositis (JDM) is the most popular subtype of juvenile idiopathic inflammatory myopathies clinically characterised by skin manifestations and myositis. Some patients with JDM present predominantly with skin symptoms without significant muscle weakness. Furthermore, some patients exhibit residual skin disease even after showing improvement of muscle symptoms with systemic glucocorticoids (GCs) and immunosuppressants. Topical GCs and/or tacrolimus are recommended for the patients with skin predominant JDM. Furthermore, systemic use of GCs and methotrexate (MTX) are indicated in refractory cases. However, some patients show refractory skin disease to even systemic use of GCs and MTX. Hydroxychloroquine (HCQ) has been reported to improve skin manifestations associated with JDM and is used globally for JDM. However, HCQ is not approved by the Ministry of Health, Labour and Welfare of Japan for treatment of JDM. Herein, we report two patients with JDM presenting with residual skin disease after taking systemic GC and immunosuppressants, which was successfully treated with HCQ. HCQ was effective for treating a case with skin symptoms without significant muscle weakness at relapse and for a case with residual skin symptoms after showing improvement of muscle symptoms with systemic GCs and immunosuppressants. No adverse events were observed in their clinical courses. Thus, HCQ may be an effective choice as an adjunctive therapy for refractory skin symptom-dominant JDM.

We describe a rare case of thrombocytopenia, anasarca, fever, reticulum fibrosis, and organomegaly (TAFRO) syndrome that developed after the second vaccination against SARS-CoV-2 (mRNA1273, manufactured by Moderna Co.) in a healthy 26-year-old male. He developed a prolonged high fever and intermittent non-localised abdominal pain soon after vaccination followed by impaired renal function and thrombocytopenia; as well as assumed cytokine storm due to serum levels of triglyceride and total cholesterol, and high serum levels of ferritin, soluble interleukin 2 receptor, soluble CD14, interleukin 6, and vascular endothelial growth factor. Based on these findings, the patient was diagnosed with TAFRO syndrome. His condition was refractory against glucocorticoid, tocilizumab, and rituximab, and temporary haemodialysis was necessary. We speculate that the mRNA vaccine triggered a modification of the immune system and caused the development of TAFRO syndrome.

The safety of belimumab during pregnancy, particularly in the third trimester, remains unclear. This study aimed to assess the placental and breast milk transfer of belimumab in pregnancies complicated by systemic lupus erythematosus and to evaluate immunological effects and vaccination responses in offspring. We prospectively followed three patients with systemic lupus erythematosus who received belimumab throughout pregnancy. Belimumab concentrations were measured in maternal serum, cord blood, breast milk, and neonatal serum, along with infant development and vaccination histories. Belimumab was continued throughout pregnancy to control refractory thrombocytopenia in two cases and haemolytic anaemia in one case. All patients delivered full-term infants without obstetric complications. Overall, belimumab concentrations in cord blood and neonatal serum were comparable to those in the maternal serum, suggesting transplacental transfer. A decrease in peripheral B and transitional B cells was observed in all neonates at birth, while serum IgG levels and peripheral T cell counts were within normal ranges. Only one infant was diagnosed with a complication (left vesicoureteral reflux). Belimumab concentrations in breast milk were low, and no adverse events occurred in the vaccinated infants. Continuation of belimumab throughout pregnancy may be an option to control refractory disease activity and achieve successful outcomes in pregnancies complicated by systemic lupus erythematosus. However, careful monitoring during pregnancy and postnatal follow-up is essential to ensure safety, given that belimumab can be transferred to the placenta, detected in the neonatal peripheral blood, and affect the neonatal lymphocyte subset counts at birth.

Ankylosing spondylitis (AS) is a chronic inflammatory disease that typically affects the axial skeleton. Renal involvement is rare in AS, only occurring in 5-13% of AS patients. Membranous nephropathy (MN) in patients with AS is extremely rare. There have been only a few cases showing the association between MN and AS. Herein we report a case of AS-associated MN in a 47-year-old male. He was diagnosed with AS-associated MN after renal biopsy, and he was treated with corticosteroids and cyclophosphamide. His low back pain and oedema disappeared gradually and serum albumin and urine protein excretion significantly improved after treatment. In clinical practice, AS patients with proteinuria or renal dysfunction should be evaluated for MN through ‌serum anti-phospholipase A2 receptor autoantibody (anti-PLA2R antibody) testing‌ and ‌renal biopsy‌ to confirm diagnosis.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple organs, including the kidneys, skin, vasculature, and central nervous system. Neuropsychiatric SLE (NPSLE) is a potentially life-threatening manifestation with diverse clinical presentations. We report a case of NPSLE presenting as myelitis in which contrast-enhanced spinal MRI showed no intramedullary abnormalities on repeated examinations ('MRI-negative myelitis'). The patient received high-dose intravenous glucocorticoids (GCs) and intravenous cyclophosphamide as induction therapy, after which anifrolumab was introduced; GCs were rapidly tapered with sustained neurological improvement. MRI-negative myelitis is a rare and diagnostically challenging NPSLE phenotype that requires a high index of suspicion. This case suggests that anifrolumab may have GC-sparing potential as part of maintenance management following induction therapy in selected patients, warranting further investigation.