Modern rheumatology case reports最新文献

Coronavirus disease (COVID-19) vaccines have demonstrated excellent efficacy in reducing the morbidity and severity of the disease. However, some patients have been reported to develop systemic rheumatic diseases, such as rheumatoid arthritis, myocarditis, Guillain-Barre syndrome, and giant cell arteritis (GCA) following COVID-19 vaccination. We present a case of GCA with ischemic optic neuropathy following COVID-19 mRNA vaccination. A 73-year-old woman developed headache, myalgia, scalp tenderness, and jaw claudication 4 days after her seventh dose of the vaccination; she also developed severe visual disturbances 1 month after the vaccination. The blood examination tests showed an increased serum C-reactive protein level and erythrocyte sedimentation rate. The echogram for the temporal artery showed a halo sign. Ophthalmic examination revealed ischemic optic neuropathy in both eyes. The patient was treated with a high-dose glucocorticoid and tocilizumab under the diagnosis of GCA with ischemic optic neuropathy, obtaining mild improvement of the symptoms. This report underscores the need for clinical vigilance and further data collection regarding GCA cases after COVID-19 vaccination.

Vesiculobullous dermatomyositis (VD) is a rare manifestation of dermatomyositis (DM) and has been suggested to be associated with malignancy. Although the myositis-specific autoantibodies are associated with distinct clinical presentations of DM, those associated with VD remain unclear. Here, we present the case of a 54-year-old man with VD who tested positive for anti-nuclear matrix protein 2 (NXP-2) antibody, one of the DM-specific autoantibodies. Serological and histopathological findings did not support autoimmune blistering disease. Physical and histological findings suggested that the severe edema in combination with the interface dermatitis of DM contributed to blister formation. Although a systemic examination was performed, no evidence of malignancy was found. Following initiation of immunosuppressive therapy, the patient showed significant improvement in both skin lesions and myositis. This case represents the first report of anti-NXP-2-positive VD without malignancy or autoimmune blistering disease. Subcutaneous edema, a characteristic feature of anti-NXP-2-positive DM, could be related to the formation of VD.

Polymyositis/Dermatomyositis (PM/DM) is an idiopathic inflammatory myopathy (IIM) manifesting mainly as symmetrical proximal muscle weakness and/or typical cutaneous features due to autoimmune mechanisms. Clinically amyopathic dermatomyositis (CADM) is a subset of DM that exhibits only the typical cutaneous features without any clinical muscle symptoms. Several autoantibodies have been found specifically in patients with PM/DM, including CADM patients. Anti-KS antibody is one of a group of anti-aminoacyl transfer RNA (ARS) antibodies that are mainly associated with fever, Raynaud's phenomenon, polyarthritis, and interstitial lung disease (ILD), whereas anti-TIF1-γ antibody is frequently found in DM patients with malignancy. Here, we report a CADM patient having both anti-KS antibody and anti-TIF1-γ antibody. This patient developed an acute exacerbation of ILD and was successfully treated with high dose corticosteroid pulse therapy together with immunosuppressive agents. Although earlier experience had indicated that the seminal characteristic of anti-KS-positive ILD was slowly developing disease onset with little or no progression over the clinical course, the present patient suffered rapidly progressive disease.

Löfgren syndrome (LS) is a sarcoidosis subtype characterized by an acute disease course, bilateral hilar lymphadenopathy, erythema nodosum, and ankle arthritis. LS in Caucasians appears to be self-limiting; however, our patients required glucocorticoid (GC) treatment. Here, we present a case of LS and review the literature to identify the characteristics of the Japanese patients with LS. Sixty-six-year-old woman was referred to our hospital; she initially presented with an acute onset of low-grade fever and ankle arthritis, followed by erythema nodosum. Skin biopsy revealed a non-caseating granuloma, and chest computed tomography scan displayed bilateral hilar lymphadenopathy; she was diagnosed with LS. Her arthralgia ameliorated spontaneously, but erythema persisted, necessitating GC treatment. Literature review revealed that the Japanese LS patients showed more fever, were more frequently treated with GC and more patients seemed to relapse, which may be explained by the absence of human leukocyte antigen-DR isotype 3, a good prognostic allele in Caucasians. Japanese LS may cause severe symptoms after development because of the differences in human leukocyte antigen from foreign countries. For early diagnosis, it is important to evaluate erythema nodosum and bilateral hilar lymphadenopathy in patients with polyarthritis involving ankle arthralgia.

Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome is a rare autoinflammatory disease characterized by bone inflammation and skin manifestations including acne, palmoplantar pustulosis, psoriasis, or hidradenitis suppurativa. SAPHO syndrome is considered on the same spectrum as chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis (CNO/CRMO), the former often being the nomenclature in adults and the latter in children. The diagnosis is made on patterns of clinical manifestations and is a diagnosis of exclusion. While skin and bone manifestations are commonly described with SAPHO syndrome, pleural involvement is rare, and few cases have been described in the literature, especially in pediatric patients. Herein we present a 14-year-old female with a past medical history of hidradenitis supprtiva, eczema, psoriasis, and a prior episode of culture-negative osteomyelitis who presented to the emergency room with chief complaints of right sided pain with inspiration and back pain. Exam revealed palmoplantar pustulosis, hidradenitis supprativa, psoriasis, and tenderness of vertebrae. Imaging showed a right sided pleural effusion and multiple sites of osteitis. Laboratory evaluation revealed elevated inflammatory markers, an exudative pleural effusion with neutrophilic predominance, and no evidence of malignancy, infection, or immunodeficiency. The patient was diagnosed with SAPHO syndrome and treated with naproxen, methotrexate, and golimumab with significant improvement including resolution of the pleural effusion. Pediatric SAPHO syndrome is a rare disease that classically causes osteitis and skin manifestations. This case highlights that pleural effusion can be a rare manifestation of pediatric SAPHO syndrome. Patients with suspected SAPHO syndrome with respiratory symptoms should be evaluated for pleural effusion.

Buerger's disease is characterized by peripheral ischemia due to occlusion of small- and medium-sized arteries in the extremities. This report describes a case of Buerger's disease in a 51-year-old male who presented with findings resembling systemic sclerosis. The patient exhibited Raynaud's phenomenon in year X-3, which developed to skin hardening, nail avulsion, and ulceration of the right fingers in year X. Diagnostic testing showed positive microvasculopathy on nailfold videocapillaroscopy (NVC) and positive fibrosis on skin biopsy. Although the patient fulfilled the 2013 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for systemic sclerosis, several findings in this case were atypical for systemic sclerosis, including left-right asymmetry in finger involvement, nail loss, and negative autoantibody tests. Contrast-enhanced computed tomography showed poor perfusion of the right ulnar artery, and a heavy smoking history was established in the patient case. Therefore, based on Shionoya's criteria, he was diagnosed with a case of Buerger's disease confined to the upper extremity. Smoking cessation and vasodilator therapy resulted in the prompt resolution of ischemic symptoms, skin hardening, and ulcerations. Furthermore, NVC abnormalities improved, and ulnar artery occlusion showed reperfusion on repeat testing. The present case suggests that hypoxemia-driven microvasculopathy may contribute to vascular occlusion and skin fibrosis observed in this atypical presentation.

Cryopyrin-associated periotic syndrome (CAPS) is a rare autoinflammatory disease caused by genetic variants in innate immunity genes. Autoinflammatory diseases, including CAPS, mediate proinflammatory cytokines such as interleukin (IL)-1 and IL-18 and result in severe systemic inflammation. A gain-of-function mutation in the NLR family pyrin domain-containing 3 (NLRP3) gene, which encodes the protein cryopyrin, was identified to be responsible for CAPS in 2001, and since then several additional pathogenic mutations have been found. Moreover, other phenotypes have been identified based on severity and symptomatology, including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease/chronic neurologic cutaneous articular syndrome. Prompt diagnosis of CAPS remains challenging, however, due to unspecific, extensive clinical signs, and delayed diagnosis and treatment targeting IL-1 lead to multiorgan damage. Another factor complicating diagnosis is the existence of somatic mosaic mutations in the NLRP3 gene in some cases, resulting in symptoms and clinical courses that are atypical. The frequency of somatic mosaic mutations in CAPS was estimated to be 19% in a systematic review. Psoriasis is a chronic inflammatory skin disease that affects ∼3% of the global population. Although no reports have shown complication between CAPS and psoriasis, these diseases have several similarities and potential relationships, for instance activation of T helper 17 cells in the dermis and increased NLRP3 gene expression in psoriatic skin compared with normal skin. Here, we report a case of CAPS due to a somatic mosaic mutation with recurrent circinate erythematous psoriasis.

Primary Raynaud's phenomenon (PRP) is characterised by episodic, reversible, and disabling vasospasms of the peripheral arteries. In the most severe cases, it can lead to ulceration of the fingers and toes. Neuro fascial VascularTraining (NFVT) is a novel therapeutic approach for treating PRP. NFVT aims to enhance peripheral circulation and stimulate the autonomic nervous system (ANS) by engaging multiple physiological mechanisms simultaneously. This integrated approach works to reduce vasospasms and alleviate associated symptoms through neurodynamic and myofascial interventions. A 54-year-old woman, who has experienced pain and hypoesthesia in her hands for 9 years, received a diagnosis of PRP without systemic sclerosis in 2014. The patient reported daily colour changes in her fingers, along with pain and a temporary decrease in tactile sensitivity. The patient engaged in ten 30-minute exercise sessions, and the clinical outcomes were assessed based on several parameters. These included the frequency and duration of vasospastic attacks, evaluated using the Raynaud Condition Score, as well as pain and tingling, measured through the daily Numeric Rating Scale. The Composite Autonomic Symptom Score (COMPASS 31) was utilised to assess dysautonomia, while the frequency of medication use and the Disabilities of the Arm, Shoulder, and Hand questionnaire were also considered. The results indicated a significant improvement in symptoms. NFVT improved symptoms and motor dysfunction in a patient with Raynaud's syndrome, demonstrating how NFVT can increase peripheral blood flow, stimulate the ANS, and improve symptoms in PRP.

Snapping of fingers can be caused by pathologies such as stenosing flexor tenosynovitis. However, snapping symptoms in the metacarpophalangeal (MP) joint caused by hypertension and hyperplasia of the lateral band are rare. We present a 26-year-old female with symptoms of painful snapping of the middle finger. When the finger was actively flexed from the hyperextension of the MP joint, the ulnar lateral band was prominent, and a snapping phenomenon occurred. The cause of the snapping finger was considered to be tightness of the ulnar lateral band, and surgery was planned. Intraoperatively, the ulnar lateral band was tense and hyperplastic. The snapping phenomenon disappeared immediately after the resection of the lateral band. It is important to consider this condition as one of the differential diagnoses of snapping finger when the patient complains of an atypical snapping phenomenon.

Salivary gland ultrasonography is a non-invasive imaging technique that helps in the diagnosis and assessment of disease activity in Sjögren's syndrome. However, it remains unclear whether the salivary gland ultrasonography findings are reversible in response to treatment. We present a case of a woman in her 20s who presented with parotid swelling and pain lasting for 3 months. The patient was diagnosed with anti-SS-A antibody-positive Sjögren's syndrome with active sialadenitis, and short-term glucocorticoid treatment resulted in resolution of clinical symptoms and improvement of salivary gland ultrasonography findings by the Outcome Measures in Rheumatology Clinical Trials scoring system. Notably, the anechoic/hypoechoic foci and vascular signals in the parotid and submandibular glands were reduced after treatment. Furthermore, peak systolic blood flow velocity of the facial artery entering the submandibular gland was decreased. Our case highlights that the findings of 'inflammatory' structural changes and vascularisation on salivary gland ultrasonography, including the Outcome Measures in Rheumatology Clinical Trials scoring system, reflect the disease active of Sjögren's syndrome and are reversible with treatment. Salivary gland ultrasonography has the potential to be a useful tool for monitoring treatment response and stratifying patients by disease activity in Sjögren's syndrome; therefore, further research is needed on the relationship of salivary gland ultrasonography findings with the pathophysiological mechanisms of sialadenitis and long-term clinical outcomes.