Case Reports in Rheumatology最新文献

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.

Background: Although tuberculosis (TB) can affect any organ, ruptured Baker's cyst due to TB is an uncommon phenomenon. Case Summary: A young lady presented with unilateral atraumatic knee and calf pain and swelling. Pain characteristics shared both mechanical and inflammatory natures. Constitutional features for TB were evident. Based on history, clinical examination, and initial investigation, a ruptured Baker's cyst with septic knee was suspected. Ultrasound-guided aspiration followed by a synovial fluid study revealed inflammatory fluid with high adenosine deaminase level but without any bacterial growth in culture and negative GRAM and AFB staining. Empirical therapy was not curative. Commencement of anti-TB brought better clinicopathological outcome. Customized rehabilitation was set up. Conclusion: Unilateral monoarthritis with ruptured tubercular Baker's cyst is a rare condition. Diagnosis, drug management, rehabilitation, follow-up, and recurrence prevention are challenging; especially with low resources. We took initiatives to collaborate all these.

Paradoxical thromboembolism via intracardiac defects have been described to cause limb ischaemia by occluding medium- to large-vessels. No cases have described injury to only the small vessels of the feet. We present a case of a 20-year-old male presenting with painful dusky digits of both feet who was initially thought to have a small-vessel vasculitis, but instead found on histopathological examination to have acute thrombotic vasculopathy causing cutaneous ischaemia. He was subsequently found to have a patent foramen ovale (PFO) but no thrombosis elsewhere. This case underscores the importance of transthoracic echocardiography (TTE) in patients presenting with small-vessel ischaemia, even in the absence of deep venous thromboses.

Antimelanoma differentiation-associated gene 5 (MDA5) dermatomyositis (DM) is a subtype of DM associated with characteristic mucocutaneous features. These individuals have an increased risk of developing interstitial lung disease (ILD) that ultimately leads to a complicated clinical course. Certain clinical findings suggest anti-MDA5 positive DM over anti-MDA5 negative DM, including cutaneous ulcers, diffuse nonscarring alopecia, and panniculitis. ILD and pneumomediastinum are known to be two of the most important pulmonary complications of anti-MDA5 DM because of the possibility of a rapidly progressive course and poor survival. This case outlines the unique presentation of pneumomediastinum, subcutaneous emphysema, and ILD in a patient with anti-MDA5 positive DM.

McArdle disease or glycogen storage disease Type V is a genetic condition caused by PYGM gene mutations leading to exercise intolerance and fatigability. The condition most commonly presents in childhood. In rare cases, patients have presented with late-onset McArdle disease. We present a case of a 64-year-old male presenting with myalgia who was initially presented with polymyalgia rheumatica-type symptoms of proximal muscle pain and a response to steroids. At review, his background musculoskeletal symptoms were evaluated in detail. Following a muscle biopsy, skeletal muscle enzymatic assay, and genetic testing, he was diagnosed with late-onset McArdle's disease (homozygous PYGM genotype). The importance of recognition and early diagnosis is highlighted to enable the accurate diagnosis and conservative lifestyle advice, with the avoidance of other medical therapies for other disease mimics.

The only way to mitigate the spread of coronavirus disease 2019 (COVID-19) pandemic was vaccines. While effective in decreasing the rate and severity of the disease, there also have been considerable adverse events. Since the birth of vaccines, adverse reactions accompanied the immunity, and COVID-19 vaccines are no exceptions. This is a report about a 52-year-old female patient who presented with bilateral redness of the eyes, with normal bilateral visual acuity, postbooster dose of the Sinopharm COVID-19 vaccine. She had no significant past history of any disease or any similar reactions after previous doses. All her physical examinations were normal. Ophthalmic examination disclosed diffuse erythema, and mild scleral edema consistent with bilateral anterior diffused scleritis with negative phenylephrine test. Thereafter, with a course of tapering doses of prednisolone (30 mg at the onset) combined with azathioprine (100 mg/day), over a 2-week period, the condition completely resolved. Very few vaccination-related adverse events may manifest an unrecognized underlying autoimmune vasculopathy which may also require urgent management. As in this case, ocular adverse events, as highlighted, are highly associated with undiagnosed autoimmune diseases and therefore warrant careful assessment by clinicians.

We reported a 10-year-old girl who had an atypical demyelinating disease as the presentation of her neuropsychiatric lupus. The patient had a 4-year history of systemic lupus erythematosus which had been on remission until she presented with fever and headache at the age of 10 years. Physical examination showed meningism. Extensive microbiological workup for infective meningitis was unrevealing. There was a radiographic finding of an extensive white matter hyperintensity on the magnetic resonance imaging (MRI) of the brain. At the initial stage of our case, as it was difficult to differentiate between infection of the central nervous system and neuropsychiatric manifestation of lupus, a course of intravenous immunoglobulin was given empirically instead of high-dose corticosteroid while awaiting the microbiological workup results. The fever and headache subsided shortly after commencement of intravenous immunoglobulin without use of pulse corticosteroid. After the active neurological symptoms remitted, she was given a total of six monthly doses of intravenous immunoglobulin at 2 g/kg/cycle and six biweekly doses of intravenous cyclophosphamide at 500 mg/m²/month. Interval MRI showed resolution of the white matter hyperintensity. Despite the extensive demyelinating disease on initial presentation, she remitted successfully without residual neurological sequelae.