Modern rheumatology case reports最新文献

Anti-melanoma differentiation-associated gene 5 (MDA-5) antibody-positive dermatomyositis (MDA5-DM) is known to cause rapidly progressive interstitial lung disease (RP-ILD). Cancer complications in MDA5-DM are less frequently reported compared to other forms of DM, though they do occur. The treatment strategy for DM with aspects of paraneoplastic syndrome is usually to treat the cancer first, if possible. However, surgery is difficult in the setting of respiratory failure and carries the risk of acute exacerbation of interstitial lung disease, as does chemotherapy and radiotherapy. The prognosis of MDA5-DM with RP-ILD has improved with initial immunosuppressive combination therapy, but certain cases remain refractory to treatment. Recently, the efficacy of janus kinase (JAK) inhibitors in refractory MDA5-DM cases has been reported. However, immunosuppressive therapies, including JAK inhibitors, may have negative effect on cancer progression. Here, we report a 48-year-old woman suffering from MDA5-DM with RP-ILD complicated by bilateral breast cancer. Due to respiratory failure, radical breast cancer surgery and chemotherapy could not be performed, so endocrine therapy and combined immunosuppressive therapy were first administered. However, the patient's condition was refractory to this initial treatment. Therefore, tofacitinib in combination with plasma exchange therapy was initiated, leading to an improvement in ILD, and bilateral mastectomy could be performed. One year later, MDA-5 antibody titers became negative, and glucocorticoid was successfully discontinued after two years. To date, three years have passed without recurrence of either MDA5-DM or breast cancer. To our knowledge, this is the first report of MDA5-DM complicated by breast cancer, as well as the first case of JAK inhibitor use for MDA5-DM with cancer. For curative treatment of MD5-DM with RP-ILD, if comorbid cancers are found, collaboration with oncologists to balance the efficacy and adverse events of MDA5-DM with RP-ILD therapy is essential in determining the appropriate type and timing of treatment, which could lead to a favorable outcome.

Kikuchi-Fujimoto Disease (KFD), also known as Kikuchi histiocytic necrotizing lymphadenitis, is an extremely rare and benign condition that mostly affects young women. It is characterized by lymph node involvement with a predilection for the cervical region, commonly presenting with tender lymphadenopathy and a low-grade fever. The diagnosis requires excisional lymph node biopsy with immunohistochemical analysis. KFD is mostly self-limiting within a few weeks to months, with only some patients requiring symptomatic relief with NSAIDs or corticosteroids, and a minority developing recurrent episodes of the disease. Importantly, it has been reported in association with Systemic Lupus Erythematosus, and, to a lesser extent, other immune-mediated inflammatory rheumatic diseases, such as Sjögren's Syndrome, whose clinical presentation itself may include lymphadenopathy. In this paper, we present an unusual case of a woman with primary Sjögren Syndrome (pSS) and a past medical history relevant for lymphoma, sarcoidosis and thymoma, who later developed KFD, a particularly challenging diagnosis in this setting. We then performed a literature review of the association between KFD and pSS, gathering a total of 13 patients, and focusing epidemiological, clinical, and laboratory data.

Eosinophilic granulomatosis with polyangiitis (EGPA) poses a significant diagnostic challenge due to its varied clinical presentation. Here, we present a case of a 59-year-old female with a history of asthma and sinusitis, who manifested with an extremely rare presentation of drastic tense blisters and hemorrhagic bullae alongside purpuric lesions and peripheral neuropathy. Examinations revealed eosinophilia, positive anti-neutrophil cytoplasmic antibody, and characteristic pathological findings with small vessel vasculitis in the purpura. Treatment with glucocorticoids and cyclophosphamide led to rapid improvement in peripheral eosinophilia, skin manifestations and motor neuron deficits. Although rare, our case underscores that bullous skin lesions should be recognized as a potential cutaneous hallmark of EGPA to aid timely diagnosis, since prompt treatment initiation is crucial given the potential irreversible organ damage and poor prognosis of EGPA.

A 62-year-old man with a history of diabetes mellitus was hospitalised with numbness of lower limbs, bullous lesions of the whole body, kidney dysfunction, presence of eosinophils, and elevated antineutrophil cytoplasmic antibodies to myeloperoxidase and anti-bullous pemphigoid 180 antibodies and was diagnosed with mononeuritis multiplex. Kidney and muscle biopsies showed vasculitis with fibrinoid necrosis, whereas skin biopsies showed only blister formation between the epidermis and dermis; a high eosinophilic infiltrate was present in all three tissues. These findings led to a diagnosis of eosinophilic granulomatosis with polyangiitis combined with allergic bullous lesions. Immunohistological examination indicated cytolytic eosinophils and extracellular traps, suggesting the presence of eosinophil extracellular trap cell death (eosinophil ETosis) in diseased tissue.

As vaccination against SARS-CoV-2 has progressed, various autoimmune diseases, including inflammatory myopathies, have been reported to develop after vaccination. Sjögren's syndrome (SS) sometimes presents as extra-glandular manifestations including inflammatory myopathy. In this report, we describe a case of inflammatory myopathy associated with SS that occurred in an atypically elderly patient after receiving the first dose of the SARS-CoV-2 mRNA vaccine (BNT162b2). The inflammatory myopathy was pathologically classified into non-specific myositis and characterised by predominant infiltration of the B cell lineage in this case. Combined treatment with glucocorticoid, intravenous immunoglobulin, and immunosuppressant resulted in an improvement in swallowing function and muscle strength. While we recognise the efficacy and safety of SARS-CoV-2 vaccines, we also emphasise the importance of recognising that individuals with an immunogenetic predisposition such as positivity of anti SS-A antibody may show disease activity including inflammatory myopathy following vaccination in SS, even at an atypically old age.

Ozoralizumab (OZR), a novel next-generation tumor necrosis factor (TNF) inhibitor with variable heavy-chain domains of heavy-chain-only antibodies, named Nanobody®, was approved in September 2022 as the sixth TNF inhibitor in Japan. Other previous TNF inhibitors have been associated with various adverse drug reactions (ADRs), including heart failure (HF). The real-world data on these rare but clinically significant ADRs associated with OZR is lacking. Herein, we report a case of an 81-year-old female patient with rheumatoid arthritis who was insufficiently responsive to previous TNF inhibitors and developed HF with reduced ejection fraction (HFrEF) after the first OZR administration. Her condition improved after OZR discontinuation, suggesting that OZR may have precipitated the HFrEF despite tolerance with previous TNF inhibitors. Further studies are warranted to elucidate the mechanism and incidence of OZR-associated HF.

VEXAS syndrome is a novel adult-onset autoinflammatory disorder caused by variants in the UBA1 gene. Here, we report a Japanese case of VEXAS syndrome in which symptoms began one day after the second booster dose of a coronavirus disease 2019 (COVID-19) messenger ribonucleic acid vaccine, and a UBA1 variant was subsequently confirmed. Combined with the three cases reported thus far, this suggests that the COVID-19 vaccine may be one of the triggers for development of VEXAS syndrome in Asian populations. Since COVID-19 vaccines have been reported to be associated with various autoinflammatory and autoimmune diseases, it is important to continue to pay close attention to the relationship between COVID-19 vaccines and VEXAS syndrome.

Cases involving both the induced membrane technique (IMT) and intramedullary beaming (IB) are generally rare. Here, we report such a case in an 83-year-old man who presented with left midfoot pain. Pyogenic arthritis was suspected based on clinical findings, and curettage was performed, revealing an extensive bone defect. The patient was clinically diagnosed with seronegative rheumatoid arthritis (RA). Therefore, the patient underwent both IMT and IB for the extensive bone defect in the talus and navicular regions caused by seronegative RA. The patient exhibited satisfactory short-term outcomes.