Anne-Sophie Groleau, Alex Derstenfeld, Steffany Poupart, Isabelle Marcil
{"title":"A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome.","authors":"Anne-Sophie Groleau, Alex Derstenfeld, Steffany Poupart, Isabelle Marcil","doi":"10.1177/2050313X251341512","DOIUrl":"10.1177/2050313X251341512","url":null,"abstract":"<p><p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic is a rare, autoinflammatory disorder caused by a somatic mutation of ubiquitin-activating enzyme 1. Common systemic manifestations include fever, neutrophilic dermatoses, relapsing polychondritis, and pulmonary manifestations. Cutaneous manifestations are frequently the initial presentation and are a marker of systemic disease. Here, we present an unusual case of a 71-year-old man with multiple cutaneous manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome occurring simultaneously.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251341512"},"PeriodicalIF":0.6,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yibin Zhang, Yinghua Wang, Ling Wang, Qingguo Wu, Weizhong Jin
{"title":"Phalange osteolysis present as the initial manifestation of sarcoidosis in a young female.","authors":"Yibin Zhang, Yinghua Wang, Ling Wang, Qingguo Wu, Weizhong Jin","doi":"10.1177/2050313X251345628","DOIUrl":"10.1177/2050313X251345628","url":null,"abstract":"<p><p>Benign nonneoplastic conditions can often mimic bone tumors in imaging studies, leading to diagnostic challenges. We report the case of a young female who presented with osteolysis of the left ring finger and mediastinal lymphadenopathy as initial manifestations. Initially misdiagnosed with a bone tumor, she underwent surgery performed by an orthopedist. Histopathological analysis of the phalanges revealed granulomatous inflammation without necrosis. Further examination of subcarinal lymphadenopathy revealed similar histological findings. Ultimately, the patient was diagnosed with sarcoidosis involving the left ring finger and the mediastinal lymph nodes. Sarcoidosis should be considered in adult patients with bone involvement. Differentiating between neoplastic and nonneoplastic conditions requires a thorough assessment of the medical history of the patient, imaging studies, and pathological findings.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251345628"},"PeriodicalIF":0.6,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A rare case of antidepressant discontinuation syndrome triggered by domperidone: Clinical insights and literature review.","authors":"Ashour Barkho, Bushra Elhusein, Niman Gajebasia","doi":"10.1177/2050313X251342973","DOIUrl":"10.1177/2050313X251342973","url":null,"abstract":"<p><p>Antidepressant discontinuation syndrome is commonly observed among patients who abruptly discontinue or reduce the dosage of an antidepressant that has been administered for at least 6 weeks. Common manifestations may include flu-like symptoms, insomnia, nausea, impaired balance, sensory disturbances, headache, irritability, anxiety, and hyperarousal. These symptoms are typically mild, persist for 1-2 weeks, and resolve upon resumption of the medication. The probability of developing this syndrome increases with the prescribed pharmacological agent's prolonged treatment duration and shorter half-life. Before prescribing antidepressants, it is imperative to inform patients about the potential complications associated with the sudden discontinuation of the medication. Understanding this phenomenon can help prevent future incidents and reduce nonadherence risk. The majority of antidepressants possess the potential to induce antidepressant discontinuation syndrome. This case report presents a unique instance of discontinuation syndrome in a 50-year-old female patient with major depressive disorder who had been effectively managed on desvenlafaxine for several years. After initiating domperidone for chemotherapy-induced nausea, she experienced \"brain zaps\" and other symptoms consistent with antidepressant discontinuation syndrome. Upon cessation of domperidone, her symptoms rapidly resolved. This report examines potential interactions between domperidone and desvenlafaxine, emphasizing the necessity for clinicians to be cognizant of possible drug interactions that may precipitate discontinuation symptoms.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251342973"},"PeriodicalIF":0.6,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104596/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Erythema elevatum diutinum - An atypical case presentation exposing the histopathological progression of disease.","authors":"Mina Youakim, Ahmed Shah, Lynne H Robertson","doi":"10.1177/2050313X251343268","DOIUrl":"10.1177/2050313X251343268","url":null,"abstract":"<p><p>Erythema elevatum diutinum is a distinct and rare form of chronic, recurrent leukocytoclastic vasculitis that typically presents with firm, smooth erythematous to violaceous papules or nodules symmetrically distributed over the extensor surfaces. Herein, we report an unusual case of erythema elevatum diutinum in a 32-year-old female who presented with a several-year history of chronic recurrent palpable purpura prior to the development of classic nodular lesions. This presentation facilitated a timely diagnosis and highlighted the histopathologic progression of the disease broadening the clinical spectrum of erythema elevatum diutinum.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251343268"},"PeriodicalIF":0.6,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12102563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144143483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alyssa Pasvantis, Jinghua Chen, Walter Allan Steigleman
{"title":"Photorefractive keratectomy in a patient with Stargardt disease: Case report.","authors":"Alyssa Pasvantis, Jinghua Chen, Walter Allan Steigleman","doi":"10.1177/2050313X251338453","DOIUrl":"10.1177/2050313X251338453","url":null,"abstract":"<p><p>This case presents a successful outcome following photorefractive keratectomy surgery in a patient with Stargardt disease. A 23-year-old female with a history of Stargardt disease oculus uterque and high myopia oculus uterque presented for refractive surgery evaluation. The patient underwent photorefractive keratectomy oculus uterque. Before surgery, the patient's refraction was -6.00 diopters oculus uterque. Visual acuity was 20/200 with correction oculus uterque. After photorefractive keratectomy, visual acuity improved to 20/100 oculus uterque without correction at 7 days post-op. At 1 year post-op, visual acuity remained stable at 20/100 +1 oculus dexter and 20/200 +1 oculus sinister without correction. Electroretinography pre- and postoperatively was stable. The patient reported subjective improvement in vision at all time points after the procedure, likely due to the resolution of minification from previous corrective lenses. While photorefractive surgery is not a definitive treatment for Stargardt disease, Stargardt disease is not a contraindication for photorefractive keratectomy surgery. This case presents successful refractive correction without retinal complications. We suggest that performing photorefractive keratectomy in a patient with Stargardt disease is unlikely to cause harm due to disease exacerbation based on this study and previous studies on the interaction of photorefractive keratectomy with corneal, lens, and retinal level outcomes. Though a soft visual endpoint may pose a unique challenge for refractive surgery in Stargardt disease, we report effective use of the iDesign 2.0 software. In all, we postulate that refractive surgery such as photorefractive keratectomy is likely to improve quality of life and vision in patients with Stargardt disease and possibly other inherited retinal pathologies as well.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251338453"},"PeriodicalIF":0.6,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effect of hyperbaric oxygen therapy on ataxia: A case report.","authors":"Vicktoria Elkarif, Amir Hadanny, Ruth Tuck Harpaz, Efrat Sasson, Shai Efrati","doi":"10.1177/2050313X251337996","DOIUrl":"10.1177/2050313X251337996","url":null,"abstract":"<p><p>Ataxias, a group of disorders characterized by impaired coordination, often lack effective treatments. Recent evidence suggests hyperbaric oxygen therapy (HBOT) may promote neuroplasticity and improve brain function. However, its impact on the core symptom of ataxia remains largely unknown. We present two cases of patients with chronic ataxia of different etiologies who received hyperbaric oxygen therapy. Our findings provide preliminary insights into the potential benefits of hyperbaric oxygen therapy for individuals with chronic ataxia. Two patients, aged 73 and 57, were presented with ataxia characterized by impaired static and dynamic balance, uncoordinated gait, and reliance on walking aids following stroke and brain injury, respectively. Pre and post-treatment evaluation included neuroimaging, gait analysis, and physical/functional assessment. Hyperbaric oxygen therapy treatment was administered for 5 days/week, consisting of 100% oxygen at two atmospheres of absolute pressure. Concurrently, twice-weekly physical therapy sessions were integrated into the treatment regimen. Post-treatment evaluation revealed significant improvements in gait, coordination, and balance, which correlated with perfusion changes in peri-lesional cerebellar tissue as measured by perfusion magnetic resonance imaging. This study presents a pioneering case series exploring the therapeutic potential of hyperbaric oxygen therapy in patients with cerebellar ataxia. Our findings suggest that hyperbaric oxygen therapy may enhance brain perfusion within the peri-lesional region, which correlates with neurophysical improvements. Given the novel nature of these findings, further randomized controlled trials with larger sample sizes and control groups are essential to validate and generalize these findings, ensuring a comprehensive understanding of hyperbaric oxygen therapy's effects on various brain injuries.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251337996"},"PeriodicalIF":0.6,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hibat Allah Qawasmeh, Omar H Salloum, Mohamed Maraqa, Orwa Al-Fallah
{"title":"Case report: A rare atypical presentation of necrotizing fasciitis with extensive spread secondary to perirectal abscess.","authors":"Hibat Allah Qawasmeh, Omar H Salloum, Mohamed Maraqa, Orwa Al-Fallah","doi":"10.1177/2050313X251342070","DOIUrl":"10.1177/2050313X251342070","url":null,"abstract":"<p><p>Necrotizing fasciitis (NF) is a rare but life-threatening soft tissue infection that spreads rapidly along the fascial planes, causing extensive tissue necrosis and high mortality. Necrotizing fasciitis can be caused by various types of bacteria; the majority of cases are polymicrobial infections. However, necrotizing fasciitis caused by a monomicrobial infection, such as <i>Escherichia coli</i>, is rare. Necrotizing fasciitis can affect any part of the body, but the most common sites are the lower extremities, abdominal wall, and perineum. Necrotizing fasciitis secondary to a perirectal abscess is uncommon and poses a diagnostic and therapeutic challenge. We report a case of a 75-year-old male patient who developed type 3 necrotizing fasciitis of the left gluteal region and left thigh secondary to a perirectal abscess. The patient presented to our hospital with severe pain, swelling, erythema, induration, and fever. He was diagnosed with necrotizing fasciitis based on clinical and radiological findings. He showed gradual improvement and was discharged after 28 days of hospitalization.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251342070"},"PeriodicalIF":0.6,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Nasal primary anaplastic lymphoma kinase-negative anaplastic large cell lymphoma with fungal infection: A case report.","authors":"Yun Huang, Liang Luo, Yi-Bin Liu, Xin-Tao Wang, Long-Gui You, Huan Li","doi":"10.1177/2050313X251342938","DOIUrl":"10.1177/2050313X251342938","url":null,"abstract":"<p><p>This report pertains to a case of nasal primary anaplastic lymphoma kinase-negative anaplastic large cell lymphoma, which was complicated by a fungal infection. The patient, a 66-year-old female, experienced pain in the left side of her face for 1 month. Pathological examination revealed the following: (1) primary systemic anaplastic lymphoma kinase-negative anaplastic large cell lymphoma. Immunohistochemical findings showed CD21(-), CD20 (clone L26) (-), CD3 (-), CD30 (+), Ki67 (60% +), CD5 (+), CD7 (-), CD56 (-), granzyme B (+), CK (-), CK5/6 (-), CD99 (+), Syn (-), S-100 (-), CD2 (+), CD4 (+), CD8 (-), CD43 (+), EMA (+), and anaplastic lymphoma kinase (5A4) (-). In situ hybridization results indicated EBER (-). (2) Microscopic findings suggested numerous fungal hyphae arranged in clusters or sheets, with PAS (+) and Grocott's methenamine silver stain (+) staining confirming the presence of a fungal infection.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251342938"},"PeriodicalIF":0.6,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A middle-aged woman with the initial symptom of acrocyanosis diagnosed with cold agglutinin disease: A case report.","authors":"Babak Salimi, Maryam Salimi, Mahta Tavakoli Avval, Rona Jannati, Mohammad Negaresh","doi":"10.1177/2050313X251342166","DOIUrl":"10.1177/2050313X251342166","url":null,"abstract":"<p><p>Autoimmune hemolytic anemia is when autoantibodies attack red blood cells, leading to anemia. Cold agglutinin disease, a subtype of autoimmune hemolytic anemia, accounts for 13%-32% of cases. We present a middle-aged woman with a history of Raynaud's phenomenon who was admitted to the hospital due to acrocyanosis, weakness, and lethargy. Her blood tests revealed indirect hyperbilirubinemia, severe anemia, an increase in lactate dehydrogenase, a positive direct Coombs test, increased inflammatory factors, and a positive cold agglutinin antibody, confirming the diagnosis of cold agglutinin disease. Despite a 5-day hospital stay and initiation of treatments, she did not show a satisfactory response to the treatments. Cold agglutinin disease is a chronic disease that can initially present with mild symptoms. Early identification through appropriate laboratory tests is crucial. In severe cases, prompt initiation of proper treatment is necessary to prevent fatal outcomes.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251342166"},"PeriodicalIF":0.6,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multiple types of cutaneous malignant tumors: A case report.","authors":"Xuejun Gao, Yutong Liu, Xia Cai","doi":"10.1177/2050313X251342945","DOIUrl":"10.1177/2050313X251342945","url":null,"abstract":"<p><p>Cutaneous malignant tumors are common, prevalent malignancies with high and rising incidence rates. Less attention has been paid to cutaneous malignant tumors because of their wide range of sites, variety of clinical manifestations, and low impact on daily life. In this paper, we report a case of a 57-year-old male who developed multiple cutaneous malignant tumors over a period of 3 years. The patient's multiple cutaneous lesions did not receive timely intervention when initially identified. Recognition of disease etiological factors and prompt therapeutic intervention upon disease onset are of critical clinical importance.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251342945"},"PeriodicalIF":0.6,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}