Modern rheumatology case reports最新文献

Neutrophilic dermatoses (NDs) are a heterogeneous group of inflammatory skin disorders marked by dense, sterile neutrophilic infiltrates. Rheumatoid neutrophilic dermatitis (RND), a rare subtype, is uniquely associated with rheumatoid arthritis (RA) and typically presents in patients with severe seropositive disease. Here, we report a rare case of bullous RND in a 67-year-old male with chronic seropositive nodular RA, temporally triggered by the interleukin-6 (IL-6) inhibitor tocilizumab. The patient developed a recurrent bullous eruption following successive tocilizumab infusions, confirmed by histopathology as RND. Despite corticosteroid therapy and colchicine, his symptoms persisted. Discontinuation of tocilizumab and initiation of etanercept resulted in rapid and sustained resolution of both cutaneous and articular symptoms. This case represents only the second reported incidence of tocilizumab-induced RND and one of very few cases demonstrating a steroid-refractory bullous phenotype that responded exclusively to TNF-α inhibition. It underscores the complex and sometimes paradoxical effects of biologics, which may both treat and trigger neutrophilic dermatoses. Our findings support the importance of recognizing biologic-induced cutaneous adverse effects and tailoring management strategies accordingly. Early identification through skin biopsy, prompt discontinuation of the offending agent, and consideration of targeted immunomodulators such as TNF-α inhibitors are critical in managing drug-induced RND. Continued documentation of such cases will enhance understanding of paradoxical inflammatory responses to biologic agents and inform future therapeutic approaches in patients with autoimmune diseases.

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is a recently identified autoinflammatory disorder caused by somatic mutations in the UBA1 gene. This report describes the case of a 54-year-old Japanese man with VEXAS syndrome exhibiting atypical features of eosinophilia and histiocytoid changes that mimic histiocytosis. Initially, the patient presented with recurrent fever, eosinophilia, lymphadenopathy, polyarthritis, and a skin rash. Histopathological examination of the skin and lymph node biopsies revealed the infiltration of CD68-positive histiocytes, raising suspicion of histiocytic disorders. However, immunohistochemistry ruled out Rosai-Dorfman disease and other histiocytosis. Subsequently, the patient developed scleritis and auricular chondritis. Bone marrow analysis revealed dysplastic changes with vacuolated cells. Genetic testing confirmed a somatic UBA1 mutation (p.Met41Leu), thereby establishing a diagnosis of VEXAS syndrome. The patient responded favourably to the oral prednisolone therapy. This case underscores that VEXAS syndrome can manifest with eosinophilia and histiocytoid infiltrates, which are atypical features that may lead to confusion in diagnosis. Eosinophilia has been infrequently reported in patients with VEXAS syndrome and may pose a diagnostic challenge. Histiocytoid changes in skin lesions and lymph nodes may serve as early indicators of VEXAS. Clinicians should be aware of these potential atypical manifestations to prevent delays in the diagnosis and treatment of VEXAS syndrome. Further research is warranted to delineate the full spectrum of clinical and pathological presentations of VEXAS.

The diagnostic criteria for TAFRO syndrome exclude autoimmune diseases, and they have been considered to be mutually independent. However, several cases of autoimmune diseases with TAFRO signs have been reported in recent years. Also, similarities in cytokine profiles in COVID-19 and TAFRO syndrome have been previously reported. Our patient, a 53-year-old Japanese man, was diagnosed with COVID-19 and had a persistent fever. Two weeks later, pain, numbness, and edema appeared, mainly in the right lower leg but gradually spreading to the distal extremities. Subsequently, purpura appeared on his forearms and lower legs, and 10 weeks after the COVID-19 diagnosis he presented to our hospital. On admission, in addition to fever, polyangiitis and purpura of the extremities, he had splenomegaly, lymphadenopathy, and anasarca. Skin and renal histopathology revealed fibrinoid necrotizing vasculitis of small and medium-sized arteries. In addition, his platelet count was low, ALP was elevated, and there was anasarca, fever, and renal failure. A diagnosis of polyarteritis nodosa with TAFRO signs was made. On the 20th day of admission, high-dose glucocorticoids and high-dose intravenous cyclophosphamide were started. The platelet count initially improved, with gradual improvement of vasculitis and symptoms of fever, purpura, and neuropathy. However, there was another decrease in platelets, progression of renal dysfunction, and worsening of fluid retention. Tocilizumab was added, but the disease could not be controlled, and on the 51st day, necrotizing fasciitis developed and the patient died. This case suggests that COVID-19, TAFRO syndrome and vasculitis may be interrelated in their pathogeneses.

We report a fatal case of hepatic portal venous gas (HPVG) following percutaneous endoscopic gastrostomy (PEG) and initiation of enteral nutrition in a 57-year-old Japanese woman with systemic sclerosis-myositis overlap syndrome complicated by pneumatosis cystoides intestinalis (PCI). She had interstitial lung disease with right heart strain, congestive heart failure, and respiratory muscle fatigue, requiring mechanical ventilation. After improvement in ventilatory failure, PEG was performed, and enteral feeding was initiated. Transient abdominal pain and recurrent vomiting developed, and computed tomography (CT) revealed intramural gastric gas and extensive HPVG. Based on the clinical course, absence of peritoneal irritation, and postmortem CT findings, gastrointestinal ischemia or necrosis was considered unlikely. The abdominal pain was attributed to gastric overdistension with intramural dissection from luminal gas entry, while HPVG was thought to result from gas tracking from the PEG site into the portal system. The presumed mechanism involved delayed wound healing at the PEG site due to systemic sclerosis-related gastric involvement, long-term glucocorticoid therapy, and malnutrition, combined with elevated intragastric pressure from routine feeding advancement and peristalsis, enabling luminal gas to dissect into the wall. The marked reduction of PCI findings when HPVG was detected suggested that gas from PCI may have contributed to its formation. Although the exact cause of death could not be determined, gas embolism was suspected. This case underscores the need for extreme caution when initiating enteral nutrition in similar patients.

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.

Although other iatrogenic immunodeficiency-associated lymphoproliferative disorders (OIIA-LPDs) are rare, they are important adverse effects of immunosuppressive therapies. Even though anti-melanoma differentiation association gene 5 (MDA5) antibody-positive dermatomyositis requires multidrug immunosuppressive therapy for interstitial pneumonia control, OIIA-LPD has rarely been reported. Moreover, central nervous system (CNS) OIIA-LPD has never been documented. Here, we report a case of CNS OIIA-LPD that may have been caused by treatment for MDA5 antibody-positive dermatomyositis. A 53-year-old woman was diagnosed with MDA5 dermatomyositis and treated for rapidly progressive interstitial lung disease using multidrug immunosuppressive therapy with prednisolone (PSL), tacrolimus, and intravenous cyclophosphamide pulse therapy. Seven months after treatment initiation, vomiting led to the discovery of a cerebellar tumour. The cerebellar tumour was histologically Epstein-Barr virus (EBV)-encoded small RNA-positive diffuse large B-cell lymphoma, with EBV-DNA being positive in the blood. The patient was diagnosed with OIIA-LPDs due to EBV reactivation. Chemotherapy, including high-dose methotrexate (MTX) and rituximab, prevented tumour recurrence without exacerbating interstitial lung disease. This is the first reported case of CNS OIIA-LPD with multidrug immunosuppression in a patient with MDA5 dermatomyositis. Chemotherapy, including high-dose MTX and rituximab, can be used for central OIIA-LPD without aggravating settled interstitial lung disease. The activity of MDA5 dermatomyositis during OIIA-LPD treatment may be managed with low-dose PSL.

Iguratimod is a novel oral disease-modifying antirheumatic drug (DMARD) utilised for rheumatoid arthritis, characterised by a favourable safety profile and infrequent instances of hypersensitivity, predominantly mild and cutaneous in nature. This report describes what appears to be the first reported case of severe, noncutaneous anaphylaxis following a first oral dose of iguratimod. A 37-year-old woman with seropositive rheumatoid arthritis, previously stable on methotrexate, experienced acute respiratory distress, hypotension, and new-onset atrial fibrillation within 3 hours of her initial iguratimod dose. She had never experienced a medication allergy before. Examination indicated significant hypoxia and cardiovascular instability. Anaphylaxis was validated by increased serum tryptase levels. Immediate treatment included injectable epinephrine, corticosteroids, fluid resuscitation, and mechanical ventilation. Electrical cardioversion was necessary to treat atrial fibrillation. The patient was stabilised with intensive care and was discharged without complications. This case demonstrates a rare but dramatic adverse reaction to iguratimod, emphasising the necessity of including anaphylaxis in the differential diagnosis of acute cardiorespiratory collapse, even in the absence of skin signs. Clinicians must recognise that novel immunomodulatory drugs may provoke severe allergic reactions and ensure that suitable precautions and emergency protocols are established prior to commencing such therapies.

Microscopic polyangiitis (MPA) is an antineutrophil cytoplasmic antibody-associated vasculitis characterised by inflammation in small vessels. Avacopan, an oral C5a receptor inhibitor, has demonstrated efficacy in inducing and sustaining remission in MPA, with the added benefit of reducing glucocorticoid exposure and associated toxicities. Among adverse effects, liver injury is the most common, occurring in 16.7-40.9% of cases in the Japanese cohorts. Drug-induced hypersensitivity syndrome (DIHS) is a rare adverse effect caused by avacopan. We describe a case of a 77-year-old woman with MPA who was initiated on prednisolone 30 mg/day and avacopan as the induction therapy. Disease activity of MPA improved with this induction therapy. However, 7 weeks after initiating avacopan, she developed significant liver dysfunction. Despite the discontinuation of avacopan, she subsequently presented with fever and a generalised rash, leading to a diagnosis of DIHS. Laboratory data revealed reactivation of human herpesvirus 6. Despite the discontinuation of avacopan, liver injury persisted, and liver biopsy findings were consistent with drug-induced hepatitis. Long-term hospitalisation was required for improvement in skin symptoms and liver function. This case highlights a rare but serious adverse event of avacopan in MPA. During avacopan therapy, it is necessary to monitor for delayed severe skin symptoms such as DIHS.

Traditionally, patients with rheumatic diseases, such as rheumatoid arthritis (RA), were considered unsuitable for joint-sparing surgery. In the present study, we report on bilateral knee joints affected by psoriatic arthritis coexisting with osteoarthritis, with good, albeit short-term, results. A 62-year-old woman was treated for psoriatic arthritis with a biologic (adalimumab). The Disease Activity in Psoriatic Arthritis index was 7.24, indicating low disease activity. She had been suffering from bilateral knee pain for some time and was treated conservatively by her local doctor, but the pain persisted, and she came to visit us. At the initial visit, tenderness in the medial joint line of both knees and hydrarthrosis in the right knee were observed. Preoprative radiographs at the time of the initial examination showed medial-type osteoarthritis in both knees. First, interlocking closed wedge high tibial osteotomy (CWHTO) was performed on the right knee. This was followed 1 year later by right knee implant removal and interlocking CWHTO on the left knee, with implant removal on the left knee 1 year after that. In both knees preoperatively and postoperatively, the joint range of motion and the Knee Injury and Osteoarthritis Outcome Score total improved Considering the patient's background, we considered high tibial osteotomy if the disease activity was controlled. However, if the disease worsens in the future, joint destruction may occur, so careful follow-up is necessary.