SAGE Open Medical Case Reports最新文献

{"title":"Misdiagnosis of sacroiliac joint gout as ankylosing spondylitis: Solving the diagnostic dilemma with dual-energy computed tomography.","authors":"Jia-Jie Tu, Jian-Xiong Wang, Sheng-Qian Xu","doi":"10.1177/2050313X251351769","DOIUrl":"10.1177/2050313X251351769","url":null,"abstract":"<p><p>Gout rarely affects the axial joints, and sacroiliac joint involvement is exceptionally uncommon.¹ This report describes the case of a 30-year-old female with a family history of gout who had recurrent knee swelling and low back pain for 2 years, initially misdiagnosed with ankylosing spondylitis. Laboratory findings showed episodic hyperuricemia and elevated inflammatory markers, while MRI revealed bilateral sacroiliitis and bone island in the right sacroiliac joint. HLA-B27 was negative, and no family history of psoriasis or ankylosing spondylitis was noted. The atypical presentation of inflammatory low back pain, along with episodic joint redness, swelling, and pain, prompted further investigation. Dual-energy computed tomography confirmed urate crystal deposition in the sacroiliac joint and knees, accompanied by bone erosion, leading to a final diagnosis of primary sacroiliac joint gout. The patient's symptoms improved significantly after being treated with diclofenac and benzbromarone. This case emphasizes dual-energy computed tomography's diagnostic utility in differentiating gouty arthritis from inflammatory sacroiliitis, especially in patients with atypical presentations, family history of gout, or hyperuricemia. Although rare, axial joint gout should be considered a differential diagnosis for axial and large joint pain. Dual-energy computed tomography provides critical insights, allowing the accurate localization of urate deposits and preventing misdiagnosis or delayed treatment. This case highlights the need for increased clinical awareness and appropriate imaging for rare presentations of gout.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251351769"},"PeriodicalIF":0.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476572","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":"Conservative management of a rare case of idiopathic spontaneous intraperitoneal haemorrhage: A case report.","authors":"Tirumalai Ramaswamy Anagha, Noor Ul Hassan","doi":"10.1177/2050313X251345933","DOIUrl":"10.1177/2050313X251345933","url":null,"abstract":"<p><p>Idiopathic spontaneous intraperitoneal haemorrhage, previously known as abdominal apoplexy, refers to bleeding into the peritoneal cavity due to the non-traumatic rupture of a visceral artery. It is a rare clinical condition that requires prompt diagnosis and management. The aetiology remains unclear, though factors such as atherosclerosis, coagulopathies, pancreatitis, malignancy and hypertension are often implicated. Very few cases have been reported where no clear aetiological cause could be identified. Here, we present the case of a 52-year-old man who was diagnosed with idiopathic spontaneous intraperitoneal haemorrhage and successfully managed conservatively. The diagnosis was confirmed through contrast-enhanced computed tomography and magnetic resonance imaging, which revealed a spontaneous mesenteric haematoma located in the right lumbar region with mild haemoperitoneum. The patient was managed with blood transfusion, IV fluids, and close monitoring; eventually, the haematoma showed signs of resolution and patient was discharged on day 10 and followed up on an outpatient basis till the haematoma completely resolved. This case report emphasis the need to maintain a high index of suspicion for spontaneous mesenteric haematoma in patients presenting with unexplained abdominal pain and haemodynamic instability, even in the absence of trauma as well as how unnecessary surgery can be avoided to reduce morbidity and improve recovery in carefully selected cases.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251345933"},"PeriodicalIF":0.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476570","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":"Treatment of Hailey-Hailey disease with the Janus kinase inhibitor abrocitinib: A case report.","authors":"Molly Gunyon, Megha Udupa, Farhan Mahmood, William D Foulkes, Kevin Pehr, Elena Netchiporouk","doi":"10.1177/2050313X251350332","DOIUrl":"10.1177/2050313X251350332","url":null,"abstract":"<p><p>Hailey-Hailey disease is a rare, chronic, autosomal dominant skin disorder characterized by recurrent painful erosions and macerated plaques, primarily affecting intertriginous areas. It is caused by mutations in the <i>ATP2C1</i> gene, leading to impaired calcium homeostasis and keratinocyte adhesion. Many patients experience poor disease control despite conventional therapies. We report a case of a female in her 60s with refractory Hailey-Hailey disease affecting the perianal, inguinal, and cervical folds, with painful, eroded plaques resistant to conventional treatments. Despite multiple failed therapies, including methotrexate, dapsone, acitretin, and naltrexone, she showed rapid improvement within 2 weeks of abrocitinib (100 mg daily), a JAK1 inhibitor, with sustained control at 2 months follow-up. JAK inhibitors, initially approved for inflammatory diseases such as atopic dermatitis, are emerging as promising therapies for genodermatoses. By suppressing IL-4/IL-13-driven inflammation, JAK1 inhibition may restore epithelial integrity and reduce chronic skin inflammation. This case adds to growing evidence that JAK inhibitors, particularly abrocitinib, may serve as an effective targeted therapy for refractory Hailey-Hailey disease. Further clinical trials are needed to confirm its long-term efficacy and safety.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251350332"},"PeriodicalIF":0.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476576","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":"Unique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report.","authors":"Aldo Arce, Matthew Nguyen, Dao Le, Ramy Hanna","doi":"10.1177/2050313X251351547","DOIUrl":"10.1177/2050313X251351547","url":null,"abstract":"<p><p>Gitelman's syndrome, also known as, familial hypokalemia-hypomagnesemia, is a renal tubulopathy responsible for salt wasting resulting in, hypomagnesemia, hypocalciuria, and secondary activation of the renin-angiotensin-aldosterone system, responsible for the hypokalemia and metabolic alkalosis. Gitelman's syndrome is due to a rare, autosomal recessive gene mutation due to deletions, missense, nonsense, frame-shift, and splice-site mutation in the solute carrier family 12, member 3 gene. Solute carrier family 12, member 3, encodes a thiazide-sensitive sodium-chloride cotransporter in the apical membrane of cells within the distal convoluted tubule, leading to the development of Gitelman's syndrome. An 18-year-old male patient with a past medical history of chronic hypokalemia, hypomagnesemia, and constipation presented to the clinic as a continuation of care from his pediatric nephrologist for previously diagnosed Gitelman's syndrome in his childhood. Regarding his history of Gitelman's syndrome leading up to his diagnosis, at the age of 3, the patient was found to be hypokalemic on routine testing with no identifiable cause. The patient underwent genetic testing, where the test result demonstrated a positive solute carrier family 12, member 3 gene mutation, concurrent with Gitelman's syndrome. On genetic testing, heterozygous variants were also detected c. 179C>T, which is a known disease-causing mutation. Currently, the patient is being monitored due to persistent hydronephrosis of the bilateral kidneys. The patient has constantly dealt with hydronephrosis; however, kidney function has been preserved. The c.179C>T (Thr60Met) variant has been used to identify individuals with Gitelman's syndrome due to this mutation being the most common, thought to be found in 1-10/40,000 individuals, with higher prevalence within Asian demographics. Literature shows a greater association of Japanese and Chinese descent when compared to other demographic groups. This finding in an individual of Hispanic origin should increase suspicion that this finding can be found in individuals, not of Asian descent.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251351547"},"PeriodicalIF":0.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476586","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":"Paralysis of the right diaphragm after laparoscopic appendectomy: A case report.","authors":"Jurij Janež","doi":"10.1177/2050313X251349932","DOIUrl":"10.1177/2050313X251349932","url":null,"abstract":"<p><p>Paralysis of the diaphragm is often associated with direct phrenic nerve injury during operative procedures. It is common after cardiac surgery, but it can also happen after central venous cannulation. Diaphragmatic paralysis is also described after anatomically distant surgery. Two cases have been described after uncomplicated laparoscopic cholecystectomy. We describe an unusual case of a 28-year-old male patient, without previous medical history, who was diagnosed with right diaphragm paralysis after an uncomplicated laparoscopic appendectomy and Meckel diverticulum excision. After diagnostics at the pulmonology clinic, the exact cause of his condition was not established. His condition improved without specific treatment. After discharge from the hospital, he had follow-ups at the pulmonology outpatient clinic. According to our knowledge, this is the first such case described in English literature.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251349932"},"PeriodicalIF":0.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476573","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":"Two case reports of rare cocaine-associated dermatoses: Pyoderma gangrenosum and linear IgA bullous dermatosis.","authors":"Daniela Cino, Barbara Marzario, Sophia Colantonio, Mark G Kirchhof","doi":"10.1177/2050313X251350333","DOIUrl":"10.1177/2050313X251350333","url":null,"abstract":"<p><p>We report two cases of cocaine-associated dermatoses: pyoderma gangrenosum and linear IgA bullous dermatosis. These cases highlight the importance of considering less common associations with drug use in the development of certain dermatoses. Eliciting a good history around the onset of the skin condition and potential triggers is vital in establishing a causal link. In both of our cases, the lesions improved with cocaine avoidance and disease-specific treatment. Use of cocaine is most commonly associated with vasculitis, but has been reported to trigger neutrophilic dermatoses and vesiculobullous diseases. Dermatologists need to be aware of these less common cocaine-associated dermatoses, particularly when patients are not responding to standard therapy alone.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251350333"},"PeriodicalIF":0.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476577","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":"Successful treatment of refractory pyoderma gangrenosum with risankizumab in a 57-year-old patient: A case report.","authors":"Damy Horth, Nora Assouyat, Isabelle Auger","doi":"10.1177/2050313X251352130","DOIUrl":"10.1177/2050313X251352130","url":null,"abstract":"<p><p>Pyoderma gangrenosum is a neutrophilic dermatosis characterized by rapidly progressing inflammatory skin lesions. It is often associated with underlying systemic conditions, such as inflammatory bowel disease and rheumatoid arthritis. Patients typically present with erythematous papules and pustules that rapidly evolve into painful ulcers, most commonly affecting the lower extremities. In this case report, we describe a 57-year-old female patient with multirefractory pyoderma gangrenosum localized to the lower left leg. The diagnosis was confirmed based on clinical and histopathological features, with a skin biopsy showing compatible findings. Initial treatments, including topical therapies (high-potency steroids, dapsone, and calcineurin inhibitors) and conventional systemic immunosuppressive therapies (corticosteroids and tumor necrosis factor inhibitors), failed to produce significant improvement. However, treatment with risankizumab, an interleukin-23 inhibitor, resulted in substantial ulcer healing over a few weeks and ultimately led to complete resolution.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251352130"},"PeriodicalIF":0.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476575","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":"Dupilumab as a treatment for bullous pemphigoid in a liver transplant recipient: A case report.","authors":"Sarah S Rashid, P Régine Mydlarski, Fatemeh Jafarian","doi":"10.1177/2050313X251350348","DOIUrl":"10.1177/2050313X251350348","url":null,"abstract":"<p><p>Bullous pemphigoid is a common subepidermal autoimmune bullous disease that affects the skin and mucous membranes. It is more prevalent in the elderly, often resulting in significant morbidity and mortality. Bullous pemphigoid is rare in solid organ transplant recipients but presents unique challenges due to their underlying immunosuppression, which increases the risks of infection and adverse drug reactions. Herein, we present the first reported case of dupilumab successfully treating bullous pemphigoid in a liver transplant recipient.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251350348"},"PeriodicalIF":0.6,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12179448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476571","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":"Prurigo pigmentosa in an African-Canadian patient: Expanding the limited literature on skin of color.","authors":"Ghassan Barnawi, Elen Grigorchuk, Raghad Aldibane, Sarah Kashkari, Lea Saroufim, Osama Roshdy","doi":"10.1177/2050313X251350350","DOIUrl":"10.1177/2050313X251350350","url":null,"abstract":"<p><p>Prurigo pigmentosa is a rare inflammatory dermatosis that predominantly affects East Asian populations, with very few reported cases in individuals with darker skin tones. The condition is characterized by pruritic, erythematous papules that evolve into a distinct, net-like pattern of hyperpigmentation. Due to its rarity in non-Asian populations, prurigo pigmentosa is often underdiagnosed or misclassified as other hyperpigmented dermatoses. We present the case of a 33-year-old African-Canadian woman who developed prurigo pigmentosa following prolonged fasting, contributing to the limited literature on this condition in skin of color. This report aims to raise awareness of prurigo pigmentosa in underrepresented populations.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251350350"},"PeriodicalIF":0.6,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12179438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476574","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":"Upadacitinib in refractory cutaneous pseudolymphoma: A case report.","authors":"Elisabetta Danese, Tea Curic, Francesco Bellinato, Chiara Colato, Paolo Gisondi, Giampiero Girolomoni","doi":"10.1177/2050313X251350370","DOIUrl":"10.1177/2050313X251350370","url":null,"abstract":"<p><p>Cutaneous pseudolymphoma is a benign condition characterized by a reactive B-cell, T-cell or mixed lymphoproliferative process. Different causative agents (e.g. injected substances, tattoo, drugs and insect bites) have been described, but in many cases no cause can be identified; hence, the term idiopathic cutaneous pseudolymphoma. There are no specific guidelines for the treatment of cutaneous pseudolymphoma, and sometimes a few cases are refractory to conventional treatments. We describe a case of a 41-year-old African woman with refractory facial IgG4 pseudolymphoma successfully treated with upadacitinib.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251350370"},"PeriodicalIF":0.6,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12179454/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476587","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}