Case Reports in Rheumatology最新文献

[This corrects the article DOI: 10.1155/2023/5780733.].

Giant cell arteritis is the most common primary systemic vasculitis among individuals over 50 years of age. It primarily affects large- and medium-size arteries and is not mediated by antibodies. One of the most recognizable and important symptoms of the disease is headache. The presence of headaches, along with other common cranial manifestations such as vision loss, jaw claudication, and scalp tenderness in the temporal arteries, can assist in diagnosing the condition. We present a complex case involving a 76-year-old male with prolonged headaches, a pituitary macroadenoma, and vestibular schwannoma. Initially, his headaches were attributed to his existing intracranial lesions; however, his symptoms continued to evolve. He continued to have headaches of varying intensity over 2 years, and subsequently developed diffuse scalp tenderness, visual disturbances, and tongue claudication. Input from various medical specialties expanded the differential diagnosis and raised the possibility of giant cell arteritis (GCA). Although the temporal artery biopsy did not reveal the classic giant cells typically associated with the condition, it supported the clinical diagnosis of GCA. Appropriate treatment with high-dose corticosteroids and anti-Interleukin 6 therapy resulted in the rapid resolution of his symptoms. This case emphasizes the importance of recognizing different types of headaches, maintaining a broad differential diagnosis, and thoroughly evaluating all clinical symptoms for timely diagnosis and treatment. It also highlights the significance of a multidisciplinary approach to ensure prompt diagnosis and to prevent irreversible complications, such as permanent vision loss.

Background: Nontuberculous Mycobacterium (NTM) infections affecting musculoskeletal structures are rare, particularly in patients with well-controlled rheumatoid arthritis (RA). This case is reported to highlight the potential risk of focal tenosynovitis due to Mycobacterium intracellulare following intra-articular glucocorticoid injection. Case presentation: A 79-year-old man with well-controlled RA developed tenosynovitis with bone destruction in the right index finger metacarpophalangeal joint following a single intra-articular injection of triamcinolone acetonide. Despite antibiotic treatment, the condition progressively worsened. Synovectomy revealed Mycobacterium intracellulare infection involving both flexor tendons, joint space, and bone marrow. The patient regularly engaged in gardening activities without protective gloves. Conclusion: This case highlights the importance of considering NTM infection in the differential diagnosis of persistent monoarthritis that worsens after intra-articular glucocorticoid injection, especially in patients with exposure risk factors such as gardening.

Giant cell arteritis (GCA), also known as temporal arteritis, is the most common systemic vasculitis in individuals over 50 and presents diagnostic challenges due to its nonspecific symptoms such as fever, headache, and fatigue. This case report describes the details of a male patient in his 70s who presented with recurrent intermittent fevers of unknown origin and was ultimately diagnosed with GCA after an extensive workup. His initial CT scans and lab tests were unremarkable. However, after a rheumatological workup displayed elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels, along with new symptoms of ataxia and headaches, a temporal artery biopsy (TAB) was performed and confirmed the patient had GCA. This case underscores the difficulty in diagnosing GCA primarily due to physician anchoring bias, particularly when typical symptoms are not present. The case also showcases the need for increased awareness and prompt evaluation of potential GCA symptoms to prevent severe complications. Public education as well as improved hospital protocols can lead to earlier detection and treatment of GCA, reducing the risk of morbidity.

[This corrects the article DOI: 10.1155/2024/3558853.].

Genital tuberculosis (GT) is a rare but significant extrapulmonary tuberculosis form, often mimicking ovarian malignancy. We report a case of a 58-year-old woman with Sjögren's syndrome and rheumatoid arthritis, previously treated with infliximab, who presented with abdominal distension, weight loss, night sweats, and intermittent abdominal pain. Initial imaging and elevated CA-125 levels suggested ovarian cancer. However, intraoperative findings revealed a frozen pelvis with granulomatous inflammation, caseating granulomas, and Langhans' giant cells. Histopathological analysis and RT-PCR confirmed GT coexisting with a serous cystadenoma. GT should be considered in the differential diagnosis of pelvic masses, especially in immunocompromised patients. This case emphasizes the importance of thorough diagnostic evaluation using molecular, serological, and imaging techniques to avoid misdiagnosis and unnecessary surgical interventions. Prompt initiation of antituberculosis treatment led to significant clinical improvement. Early and accurate diagnosis of GT is crucial to prevent morbidity associated with misdiagnosis and to provide effective treatment. This case underscores the need for heightened clinical awareness and multidisciplinary approaches in managing complex cases where GT mimics malignancy, ensuring optimal patient outcomes.

PAPASH syndrome, a rare autoinflammatory condition characterized by pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa, presents significant treatment challenges due to its rarity and complex multisystem involvement. Since its initial description in 2013, only 14 cases have been documented, leading to limited treatment experience. Although IL-1 and TNF-alpha blocking agents have shown efficacy, responses vary due to genetic and pathogenetic differences, with some cases being resistant. Therefore, alongside summarizing prior treatment experiences, new treatment modalities need to be explored. This report presents the case of a 46-year-old Native American male with PAPASH syndrome who responded successfully to IL-17 inhibition with secukinumab. The patient experienced marked improvement in both dermatologic and rheumatologic symptoms, highlighting the potential role of IL-17 in the pathogenesis of PAPASH. This case suggests that IL-17 inhibition could be a promising treatment modality for PAPASH syndrome.

Dermatomyositis (DM) and antisynthetase syndrome are rare autoimmune disorders within the spectrum of inflammatory myopathies, typically characterized by cutaneous and muscular inflammation along with systemic manifestations. This case report highlights the evolving treatment strategies for inflammatory myopathies, with a focus on the use of anifrolumab, a type-1 interferon receptor blocker, in a 29 year-old female with refractory DM/antisynthetase syndrome. The patient presented with classic DM features, including heliotrope rash, Gottron's papules, and malar erythema, but lacked significant myopathy. Initial therapies with methotrexate and prednisone were ineffective, and her condition worsened despite adding intravenous immunoglobulin (IVIg) and tofacitinib. Following persistent disease progression, therapy was switched to a combination of IVIg, apremilast, and anifrolumab as an off-label drug for DM. Within 5 months, the patient showed significant improvement in myopathy and skin manifestations. Anifrolumab targets the interferon (IFN) axis, which plays a crucial role in DM pathogenesis. This case underscores the potential of targeted therapies like anifrolumab in managing DM, especially in cases not responsive to conventional standard of care therapies. It also highlights the need for further research into the IFN pathway as a therapeutic target in inflammatory myopathies. Trial Registration: ClinicalTrials.gov identifier: NCT06455449.

Background: Glanzmann thrombasthenia (GT) is a rare disease that manifests with bleeding in different parts such as epistaxis and bruising. GT can be congenital or acquired. Systemic lupus erythematosus (SLE) is an autoimmune disorder. It is mentioned that the acquired type can be associated with other disorders like malignancies and autoimmune disorders. There is no report about the co-occurrence of congenital GT with SLE. Case Report: In this report, we present this co-occurrence in a girl. An 11-year-old girl was referred to our clinic with severe and uncontrolled epistaxis. She had a history of recurrent epistaxis, gastrointestinal bleeding, and bruising. She also had a malar rash and generalized body pain. She was admitted, and after clinical and laboratory assessments, a co-occurrence of congenital GT with SLE was diagnosed. Conclusion: The co-occurrence of congenital GT and SLE has not been reported until now. Patients with this presentation should be closely followed up because the risk of bleeding is high for them.

Background: Hydralazine is a commonly used arteriolar vasodilator that is associated with autoimmune side effects, including drug-induced lupus. A less well-recognized drug-induced vasculitis can be seen, often accompanying drug-induced lupus. This syndrome can cause long-standing vague symptoms, leading to missed diagnoses, and can result in permanent end-organ damage. We describe here such a case of hydralazine-induced vasculitis and lupus overlap syndrome. Case Presentation: An 85-year old male presented with chronic fatigue and weight loss associated with anemia, leukopenia, and acute renal injury in the setting of longstanding hydralazine use. Serologic studies were notable for a positive antinuclear antibody, antihistone antibody, along with anti-myeloperoxidase (MPO) and anti-proteinase 3 (PR3) antibodies. Hydralazine was discontinued, and treatment was initiated with high-dose prednisone. A renal biopsy revealed antineutrophil cytoplasmic antibody (ANCA)-associated focal necrotizing pauci-immune glomerulonephritis. The patient's clinical course was complicated by the development of oral ulcerations and recurrent hydrocele secondary to serositis. Rituximab was then employed without clinical improvement, with eventual progression to end-stage renal disease requiring hemodialysis. Conclusions: This case report helps highlight the vague symptoms that can be associated with hydralazine-induced vasculitis/lupus overlap syndrome. This case will increase clinician awareness for early recognition of such a syndrome, prompting early diagnosis, preventing end-organ damage, reducing hospitalizations and improving quality of life.