{"title":"Upadacitinib as a potential management option for diffuse cutaneous systemic sclerosis: A case report.","authors":"Sidra Sarfaraz, Janis Chang, Mark G Kirchhof","doi":"10.1177/2050313X251343300","DOIUrl":"10.1177/2050313X251343300","url":null,"abstract":"<p><p>Systemic sclerosis (SSc) is a complex disease involving vasculopathy, immune dysfunction, and fibrosis, with varied clinical presentations that complicate treatment standardization. It often affects multiple organs, including the skin, lungs, gastrointestinal tract, and kidneys. We present a 52-year-old woman with a 14-year history of diffuse cutaneous SSc with severe, treatment-resistant manifestations. She had Raynaud's disease with digital ulceration and auto-amputation, telangiectasias, sclerodactyly, esophageal scleroderma, interstitial lung disease, and extensive calcinosis requiring multiple surgeries. Her disease remained poorly controlled despite treatment with nintedanib, sevelamer, colchicine, tadalafil, and prior immunosuppressants such as prednisone and mycophenolate mofetil. We initiated a trial of upadacitinib which resulted in improved vascular and cutaneous symptoms. Overall, upadacitinib provided meaningful clinical benefits despite her refractory, multisystem disease.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251343300"},"PeriodicalIF":0.6,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302808","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}
Roberto Martínez Mejorada, Daniel E Saldívar Martínez, Edgar A Peñarrieta Daher, Melissa F Ochoa Cortez, Cynthia M González Cantú, Emilio Jaques Villarreal, Yanko Castro-Govea
{"title":"Forehead flap affected by a primary varicella-zoster infection in a pediatric patient. A case report.","authors":"Roberto Martínez Mejorada, Daniel E Saldívar Martínez, Edgar A Peñarrieta Daher, Melissa F Ochoa Cortez, Cynthia M González Cantú, Emilio Jaques Villarreal, Yanko Castro-Govea","doi":"10.1177/2050313X251330714","DOIUrl":"10.1177/2050313X251330714","url":null,"abstract":"<p><p>Exanthematous diseases are common in childhood, and varicella is one of the most frequent. We present the case of a 10-year-old girl with partial avulsion of the nasal tip reconstructed with an ipsilateral forehead flap. During her hospital stay, she developed a primary varicella-zoster virus infection, in which the skin lesions also appeared on the forehead flap. Due to its unusual nature, it is important to understand the evolution of a flap affected by systemic dermatosis.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251330714"},"PeriodicalIF":0.6,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12149617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267230","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}
Maha Arkan Khudhair, Rikke Christensen, Anne Skakkebæk, Jakob Grue Graverholt, Anders Bergh Lødrup
{"title":"Cholangitis resembling Caroli's syndrome in a patient with autosomal dominant polycystic kidney disease: Case report.","authors":"Maha Arkan Khudhair, Rikke Christensen, Anne Skakkebæk, Jakob Grue Graverholt, Anders Bergh Lødrup","doi":"10.1177/2050313X251346657","DOIUrl":"10.1177/2050313X251346657","url":null,"abstract":"<p><p>Caroli's syndrome is a rare autosomal recessive disorder characterized by segmental cystic dilation of the intrahepatic bile ducts and congenital hepatic fibrosis. It is associated with autosomal recessive polycystic kidney disease. Here, we report a 63-year-old male known with polycystic kidney disease, who was admitted to our hospital with intermittent fever, accompanied by weight loss. Magnetic resonance cholangiopancreatography suggested the presence of Caroli's syndrome, characterized by cystic dilation of the intrahepatic proximal bile ducts on both the right and left lobes of the liver. Shear wave elastography revealed the presence of mild liver fibrosis. The patient recovered with broad-spectrum antibiotics. Genetic testing found no evidence of variation in the <i>PKHD1</i> gene. However, a heterozygous deletion of the <i>PKD1</i> gene was identified, a deletion that has not previously been linked to disease, and therefore the patient's family was offered genetic analysis. The patient has since remained free of cholangitis and icterus and continues to be followed in the nephrology department.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251346657"},"PeriodicalIF":0.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12144367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144249440","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":"Late-onset diagnosis of SHINE syndrome in an adolescent with developmental delay: Case report.","authors":"Mohamed Zebda, Isaiah Carter, Sierra Cowan","doi":"10.1177/2050313X241308444","DOIUrl":"10.1177/2050313X241308444","url":null,"abstract":"<p><p>Sleep disturbances, hypotonia, intellectual disability, neurological disorders, and epilepsy (SHINE) syndrome is a rare autosomal dominant neurodevelopmental disorder. A mutation in the DLG-4 <i>gene</i> on chromosome 17 causes SHINE syndrome. SHINE are characteristic feature of the disease. This case recounts a 16-year-old female patient who presented with a longstanding history of developmental delay and intellectual disability since the age of two. At various points throughout her childhood, she was diagnosed with pervasive developmental disorder, autism spectrum disorder, attention-deficit hyperactivity disorder, and severe intellectual delay, undergoing extensive testing and imaging. Fourteen years after the initial presentation, additional genetic testing revealed a de-novo mutation in the DLG4 <i>gene</i>, confirming a diagnosis of SHINE syndrome. Due to its characteristic features, SHINE syndrome should be considered part of the differential diagnosis in children with unexplained developmental delays.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X241308444"},"PeriodicalIF":0.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12120267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180156","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":"Infantile myofibromatosis in a 1-month-old male from Pakistan: A case report.","authors":"Aiman Anjum, Malaika Jawaid Siddiqui, Nushrath Ali, Aisha Masoom, Arbaz Zaman, Eeshal Zulfiqar, Hussain Haider Shah","doi":"10.1177/2050313X251338411","DOIUrl":"10.1177/2050313X251338411","url":null,"abstract":"<p><p>Infantile myofibromatosis is a well-recognized soft tissue tumor that is usually seen in infants and younger populations. These benign lesions mostly arise in the skin and soft tissues of the head and neck but may also involve visceral organs such as the lung, liver, and gastrointestinal tract. After a clinical diagnosis is made, a histological and immunological workup is performed to identify characteristic features like spindle-shaped cells and positive markers such as alpha-smooth muscle actin and vimentin. In most cases, since the mass is expected to spontaneously resolve, a wait-and-watch approach is adopted, especially in the pediatric age group. However, if the tumor advances to involve the organs, a complete surgical resection is carried out. In line with this, we present the case of a 1-month-old male who was diagnosed with infantile myofibromatosis after presenting with a congenital mass on the right thigh. He was born at 36 weeks of gestation to a healthy mother with an uneventful prenatal history. Imaging and histopathology confirmed the diagnosis, revealing a spindle cell neoplasm positive for alpha-smooth muscle actin and vimentin. Given the absence of visceral involvement, a conservative management approach was chosen, and the patient was scheduled for follow-up. However, the patient was lost to follow-up, which limited further assessment of disease progression. This case underscores the importance of early recognition and diagnosis of infantile myofibromatosis as a differential diagnosis for pediatric soft tissue masses. It also highlights the challenges posed by loss to follow-up in rare pediatric conditions.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251338411"},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161854","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":"Cutaneous cytomegalovirus in mixed serostatus kidney transplant patient.","authors":"Dominic Finan, Vaibhav Garg, Lucjan Lang, Tricia Royer, Katherine Belden, Sherry Yang","doi":"10.1177/2050313X251341511","DOIUrl":"10.1177/2050313X251341511","url":null,"abstract":"<p><p>Cutaneous cytomegalovirus infection is a rare but serious complication in solid organ transplant recipients. We present a 47-year-old male kidney transplant recipient with a chronic, nonhealing right lower extremity ulcer. Initial biopsies revealed septic vasculopathy, leading to treatment with sodium thiosulfate and antibiotics for suspected calciphylaxis. Despite regular wound care, the ulcer continued to worsen. After completing 6 months of cytomegalovirus prophylaxis, surveillance viral levels remained undetectable, but the ulcer progressed considerably. Worsening severity prompted hospitalization, during which cytomegalovirus viremia was detected, and an ulcer biopsy confirmed cytomegalovirus inclusion bodies. Antiviral therapy was reinitiated, resulting in rapid and sustained wound improvement. Therefore, this case underscores cytomegalovirus' potential for cutaneous invasion in transplant recipients, even without preceding viremia, and highlights the importance of considering cutaneous cytomegalovirus in nonhealing ulcers posttransplant, especially in serodiscordant recipients.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251341511"},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161841","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 airborne allergic dermatitis to sesquiterpene lactone with upadacitinib: A case report.","authors":"Barbara Marzario, Daniela Cino, Sophia Colantonio","doi":"10.1177/2050313X251341518","DOIUrl":"10.1177/2050313X251341518","url":null,"abstract":"<p><p>This case report describes, to our knowledge, the first known successful treatment of airborne allergic contact dermatitis to sesquiterpene lactone with upadacitinib in an adult patient. Recurrent summertime photodistributed eczematous eruptions should raise suspicion for airborne allergic contact dermatitis to sesquiterpene lactone, and positive patch test results to sesquiterpene lactone and Compositae in these patients should be considered highly relevant. In addition to allergen avoidance, treatment with systemic Janus kinase inhibitors can induce allergic contact dermatitis remission. Our patient did not respond to allergen avoidance or topical corticosteroids; however, he achieved almost complete resolution of his allergic contact dermatitis with a 6-week course of upadacitinib, a Janus kinase 1 inhibitor.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251341518"},"PeriodicalIF":0.6,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151565","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}
Tasneem AbuShaikha, Saja Alzboun, Ameer Alhosheyeh, Imad Aljaafreh, Ahmad Alhalabia, Haytham Shaban, Ahmed Barbarawi, Yazan Haddar, Farah Awad, Elias Edward Lahham
{"title":"Malignant myoepithelial tumor of the right fibula in a young female: A case report.","authors":"Tasneem AbuShaikha, Saja Alzboun, Ameer Alhosheyeh, Imad Aljaafreh, Ahmad Alhalabia, Haytham Shaban, Ahmed Barbarawi, Yazan Haddar, Farah Awad, Elias Edward Lahham","doi":"10.1177/2050313X251342989","DOIUrl":"10.1177/2050313X251342989","url":null,"abstract":"<p><p>Myoepithelial tumors are extremely rare tumors, with only about 30 cases reported in the literature to date. We present the case of a 27-year-old female diagnosed with malignant right fibula myoepithelial tumor/myoepithelial carcinoma, initially treated with systemic chemotherapy. During treatment, she developed uncontrolled leg pain and metastatic disease to the lungs, leading to a palliative above-knee amputation. Due to the rarity of malignant myoepithelial tumors and the lack of treatment guidelines, a systematic literature review was conducted, exploring various chemotherapeutic and biological agents. Her treatment was planned by a multidisciplinary team, considering her willingness to continue treatment, and ultimately, a decision was made to proceed with palliative care. This case report aims to provide valuable insights for physicians managing patients with this rare diagnosis.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251342989"},"PeriodicalIF":0.6,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104591/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151555","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 case and literature review of axial spondyloarthritis and immunoglobulin A vasculitis: Rare association or under-recognized?","authors":"Robin Sia, Mueed Mian","doi":"10.1177/2050313X251341130","DOIUrl":"10.1177/2050313X251341130","url":null,"abstract":"<p><p>Axial spondyloarthritis (axSpA) is a chronic inflammatory arthritis affecting the spine and sacroiliac joints, often accompanied by extra-musculoskeletal manifestations involving the eyes, gut, and skin. Other organ systems, including the heart (aortic insufficiency), lungs (upper-lobe predominant interstitial fibrosis), and kidneys (nephritic syndrome), may also be affected. Immunoglobulin A vasculitis (IgAV), formerly known as Henoch-Schönlein purpura, is the most common systemic vasculitis in children and is typically self-limited. It is characterized by palpable purpura, arthritis or arthralgia, abdominal pain, and renal involvement. Studies suggest a potential link between elevated serum immunoglobulin A levels and active inflammation in axial spondyloarthritis. Here, we present a case of a Caucasian male diagnosed with immunoglobulin A vasculitis, leading to the identification of previously unrecognized axial spondyloarthritis. In addition, we reviewed the current literature on IgAV occurring in patients with axial spondyloarthritis.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251341130"},"PeriodicalIF":0.6,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104594/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151439","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}
Hau Viet Nguyen, Kiet Anh Nguyen, Ngan Kim Dang, Lana Rinchen, Trang Thi Nguyen
{"title":"Unintentional amitriptyline overdose leading to coma and cardiac conduction impairment in an older adult: A case report.","authors":"Hau Viet Nguyen, Kiet Anh Nguyen, Ngan Kim Dang, Lana Rinchen, Trang Thi Nguyen","doi":"10.1177/2050313X251344032","DOIUrl":"10.1177/2050313X251344032","url":null,"abstract":"<p><p>Elderly patients are particularly vulnerable to look-alike/sound-alike medication errors due to physiological differences that alter medication pharmacokinetics and pharmacodynamics. This report presents the case of a 70-year-old woman admitted to the emergency department in an unconscious state. The information provided by the patient's family suggested a potential unintentional amitriptyline overdose due to confusion with berberine-a plant-derived over-the-counter antidiarrheal medication of similar appearance and packaging. Examination of the remaining amitriptyline tablets indicated the patient had likely consumed 19 tablets of 25 mg amitriptyline. This suspicion was supported by an electrocardiogram showing QRS widening to 110 ms and tachycardia. Following serum alkalization therapy with sodium bicarbonate, the patient's consciousness improved, her heart rate normalized, and QRS duration was shortened. This case underscores the importance of involving healthcare providers and family members in implementing robust safety measures to prevent unintentional medication errors caused by look-alike/sound-alike medications, particularly among older adults.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251344032"},"PeriodicalIF":0.6,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151571","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}