Modern rheumatology case reports最新文献

A retrograde ankle nail combined with corrected talar osteotomy is indicated for severe ankle joint deformities owing to rheumatoid arthritis. However, the usefulness of this procedure in improving gait function remains unclear. We treated a 78-year-old woman with rheumatoid arthritis (RA) who experienced significant gait pain owing to a severe varus deformity of the ankle. She underwent corrected closed-wedge talus osteotomy and retrograde intramedullary ankle nail insertion. Preoperative analysis showed Japanese Society for Surgery of the Foot RA foot ankle scale of 44, with limited range of motion and impaired gait. Six months postoperatively, her scale improved to 69, indicating enhanced functional outcomes. Gait analysis at 6 months revealed a notable increase in stride length, gait speed, and cadence, along with a reduction in stance phase and double support duration. In addition, the swing phase increased. The painful lateral callosity of the foot disappeared postoperatively. This report emphasises the effectiveness of surgical intervention in improving gait function in patients with severe ankle deformities owing to RA. However, limitations include the absence of clubfoot correction and a relatively short follow-up period. Overall, these findings suggest that the surgical approach is beneficial for restoring mobility and alleviating pain in patients with complex ankle conditions.

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by multiple genetic mutations; all leading to reduced FGF23 function. It is characterised by hyperphosphatemia, ectopic calcifications, and signs of systemic inflammation. We describe a case of a 33-year-old male patient, previously diagnosed to have tumoral calcinosis due to multiple calciferous masses, who presented with polyarthritis involving the joints of the hands. He was managed by multiple surgical resections, after which the masses and symptoms recurred. He lost follow-up for 16 years before presenting to our clinic. The identification of elevated serum phosphate levels and a sibling with similar symptoms guided the diagnosis of HFTC. The patient was started on a low phosphate diet, sevelamer, and acetazolamide, and was instructed to avoid calcium and vitamin D supplements. Intravenous Zoledronic Acid was also given. The patient reported improvement in his symptoms in the follow-up visits.

Granulomatosis with polyangiitis (GPA) rarely involves the urological system. Herein, we report the case of a 71-year-old man with GPA who presented with frequent urination and a computed tomography detected low-density area in the enlarged prostate, suggesting an abscess. The initial prostate biopsy revealed necrotic tissue consistent with a prostate abscess, with severe destruction ultimately leading to a bladder fistula. However, upon further review of the pathology samples, multinucleated giant cells were identified, raising suspicion for GPA. Further history revealed bloody nasal discharge, and biopsy results from a lung mass also indicated GPA. Based on these findings-along with sinusitis and proteinase-3-anti-neutrophil cytoplasmic antibody positivity-the diagnosis of GPA was made. Our patient was treated with steroid pulse therapy; however, disease progression could not be controlled, and he died suddenly due to haemorrhagic cerebral infarction. Autopsy revealed granulomas in the lungs and spleen, crescentic glomerulonephritis in the kidneys, and haemorrhagic infarction with an embolised fibrin clot in the brain. Urogenital lesions in GPA can be challenging to diagnose due to their nonspecific presentation, and clinicians should consider GPA in patients presenting with unexplained prostatitis and systemic symptoms, as early diagnosis and treatment could prevent unnecessary surgeries and improve prognosis.

Systemic lupus erythematosus (SLE) can present with various symptoms, including rare manifestations such as gangrene. This report describes a 12-year-old girl with SLE who presented with intermittent claudication and gangrene. Although intermittent claudication is rare in paediatric cases, it is essential to consider vascular diseases including those associated with SLE as a potential cause. The patient initially experienced pain, redness, and cold sensations in the right great toe accompanied by intermittent claudication, with symptoms worsening over time. Diagnostic imaging, including contrast-enhanced computed tomography and magnetic resonance imaging, revealed occlusion of the right popliteal artery with associated vasculitis and thrombosis. The diagnosis of SLE and antiphospholipid syndrome was confirmed based on clinical criteria. Treatment included prednisone, methylprednisolone pulse therapy, mycophenolate mofetil, hydroxychloroquine, and anticoagulants. The patient showed significant improvement, with resolution of claudication and effective management of her gangrene through immunosuppressive therapy and careful wound care. This case highlights the importance of considering vascular complications in paediatric SLE and underscores the need for early diagnosis and comprehensive treatment.

A previously healthy 22-year-old female presented with complaints of fatigue, joint pain, headache, fever, and night sweats for several months. She also reported a reddish painful left eye and a rash on her legs 2 months ago. On examination, her blood pressure was elevated at 160/100 mmHg and her lower limb pulses were hardly palpable. On investigation, she had anterior and intermediate uveitis, nasal septal ulcer, proteinuria, positive cytoplasmic anti-neutrophil cytoplasmic antibodies (C-ANCA), and a computed tomography angiography showed multiple abdominal aortic aneurysms and occlusion of both the left common carotid artery and the right superficial femoral artery. Lymph node biopsy showed necrotising granulomatous inflammation. The patient was diagnosed with granulomatosis with polyangiitis (GPA) with large-vessel involvement, which is a rare finding.

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.

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.