Journal of investigative medicine high impact case reports最新文献

{"title":"The Imitation Game: Melanoma Metastasis Poses as a Primary Breast Tumor.","authors":"Jowan Al-Nusair, Thomas Wright, Adamsegd Gebremedhen, Howide Eldib, Mohamed Alshal, Maria Tirona","doi":"10.1177/23247096251345394","DOIUrl":"10.1177/23247096251345394","url":null,"abstract":"<p><p>Metastatic melanoma to the breast is a rare phenomenon often mistaken for primary breast cancer due to overlapping clinical and imaging characteristics. We report the case of a 51-year-old woman with a history of melanoma resected 7 years earlier, presenting with severe left hip pain and a 6-month history of a right breast lump. Imaging revealed extensive metastatic disease, including lesions in the femoral head, breast, lung, adrenal gland, and thoracic spine. Pathologic examination of the hip lesion obtained during total arthroplasty, as well as biopsies of the breast and lung, confirmed metastatic melanoma. Histology revealed pleomorphic tumor cells with necrosis, while immunohistochemical analysis demonstrated SOX10 and S100 positivity, confirming the diagnosis. Genetic testing identified microsatellite stability with a tumor mutational burden of 16 mutations per mega base. This case shows the importance of thorough cancer histories and the use of immunohistochemical staining to distinguish metastatic melanoma from primary breast malignancies. Despite timely diagnosis and intervention, the patient's condition deteriorated rapidly, reflecting the aggressive nature of metastatic melanoma. This case highlights the need for vigilance in patients with a history of melanoma presenting with new breast masses to ensure accurate diagnosis and appropriate management.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251345394"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191905","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":"Nodal Mature Plasmacytoid Dendritic Cell Proliferation in a Patient With Chronic Myelomonocytic Leukemia: A Diagnostic Mimic of Blastic Plasmacytoid Dendritic Cell Neoplasm.","authors":"Jowan Al-Nusair, Nathaniel Porter, Zakaria Alagha, Vincent Graffeo, Waqas Mahmud, Mohamed Alshal","doi":"10.1177/23247096251344723","DOIUrl":"10.1177/23247096251344723","url":null,"abstract":"<p><p>Mature plasmacytoid dendritic cell proliferation (MPDCP) is a rare, clonal but nonmalignant entity often associated with myeloid neoplasms such as chronic myelomonocytic leukemia (CMML), myelodysplastic syndromes, and acute myeloid leukemia. While typically confined to the bone marrow, nodal MPDCP is exceedingly rare and may mimic blastic plasmacytoid dendritic cell neoplasm (BPDCN), posing diagnostic challenges. We report a 78-year-old male with CMML-1 and progressive cervical lymphadenopathy. Workup revealed monocytosis, ASXL1 and CBL mutations, and CMML. Lymph node biopsy showed paracortical expansion by small mononuclear cells with plasmacytoid features. Immunophenotyping identified a CD4+, CD123+, CD303+, HLA-DR+, lysozyme+, CD56- population, consistent with MPDCP. A subset expressed TdT and granzyme B, with a Ki-67 index of 20% to 30%. Next-generation sequencing confirmed the same ASXL1 and CBL mutations in the lymph node, supporting clonal relation to CMML. Key differential diagnoses included BPDCN, T-cell lymphomas, Langerhans cell histiocytosis, and Kikuchi-Fujimoto disease. Absence of CD56, mature cytomorphology, and molecular concordance favored MPDCP. This case highlights the importance of distinguishing nodal MPDCP from malignant mimics. MPDCP may reflect immune evasion, altered cytokine signaling, or clonal progression in myeloid neoplasms. The patient was initially treated with hydroxyurea, later transitioned to decitabine/cedazuridine (Inqovi) for disease progression. Follow-up marrow biopsy showed stable CMML-2 with persistent mutations, and the patient remains under close monitoring. Recognizing MPDCP in unusual locations is critical for accurate diagnosis and prognostication. Further studies are warranted to clarify its molecular pathogenesis and potential as a biomarker of disease evolution in CMML and related disorders.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251344723"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142723","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 Report and Literature Review on Systemic Sclerosis Manifesting as Melena and Hematochezia.","authors":"Anthony El Gharib, Léa Nassif, Karam Karam, Elias Fiani","doi":"10.1177/23247096251348903","DOIUrl":"10.1177/23247096251348903","url":null,"abstract":"<p><p>Systemic sclerosis (SSc) is a rare autoimmune disorder that leads to progressive fibrosis and vascular dysfunction, frequently affecting the gastrointestinal tract with around 90% of patients experiencing gastrointestinal complications, with severe manifestations such as gastric antral vascular ectasia and rectal telangiectasia which lead to chronic bleeding and iron-deficiency anemia. This review and case report explore the pathophysiology of GI involvement in SSc, emphasizing fibrosis, microvascular damage, and dysmotility. It also highlights treatment options, including endoscopic interventions like argon plasma coagulation and pharmacological therapies.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251348903"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12179478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325986","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":"Pseudomembranous Colitis: Unveiling an Infrequent Culprit Beyond <i>Clostridium difficile</i>-A Case Report.","authors":"Manasa Ginjupalli, Jayalekshmi Jayakumar, Praneeth Bandaru, Vikash Kumar, Arnold Forlemu, Giovannie Isaac Coss, Denzil Etienne, Madhavi Reddy","doi":"10.1177/23247096251347401","DOIUrl":"10.1177/23247096251347401","url":null,"abstract":"<p><p>Immunotherapy-induced pseudomembranous colitis (PMC) is an uncommon but increasingly recognized adverse effect of immune checkpoint inhibitors, particularly in patients with advanced malignancies. We present a case of a 68-year-old male with gastric adenocarcinoma undergoing treatment with immunotherapy and chemotherapy, who developed symptoms of PMC. Workup for <i>Clostridium difficile</i> and other common etiologies was negative. Colonoscopy revealed severe mucosal congestion and yellowish-green exudates, consistent with PMC. Based on the biopsy results and clinical presentation, after excluding common etiologies, immunotherapy-induced PMC was suspected. The patient responded to steroid therapy, with gradual improvement and a tapering regimen upon discharge. This case underscores the diagnostic challenges in identifying the etiology of PMC, particularly when it presents with diffuse involvement of the colon, which is an uncommon presentation for immunotherapy-related colitis. The overlap in clinical, endoscopic, and histopathological findings with other forms of colitis, such as Clostridium difficile infection (CDI) and inflammatory bowel disease, highlights the need for heightened awareness among clinicians. This case highlights the diagnostic challenges in recognizing immunotherapy-induced PMC, particularly with atypical, diffuse colonic involvement. The overlapping features with other colitis make timely diagnosis difficult. Further research is needed to refine diagnostic criteria and management strategies for immunotherapy induced colitis (IMC).</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251347401"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12177235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317123","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 of Eosinophilic Granulomatosis With Polyangiitis Presenting as Quadriplegia\": A Clinical and Diagnostic Report.","authors":"Waqas Inayat, Sehba Iqbal, Fatma Adnan, Amjad Ali, Alam Zeb","doi":"10.1177/23247096251374513","DOIUrl":"10.1177/23247096251374513","url":null,"abstract":"<p><p>An antineutrophil cytoplasmic antibody-associated small artery vasculitis that primarily affects the skin, lungs, and heart is called eosinophilic granulomatosis with polyangiitis (EGPA). It typically begins with initial respiratory symptoms like asthma and chronic sinusitis, and later progresses to systemic vasculitic issues that are linked to increased levels of eosinophils in the blood and tissues. While both central nervous system (CNS) and peripheral nervous systems can be affected, CNS involvement is rare. Nerve damage from vasculitis in EGPA usually appears as mononeuritis multiplex and is infrequently seen as polyradiculopathy. Here, we discuss an unusual case where a patient with EGPA presented with worsening asthma, a skin rash, and a sudden quadriplegia due to involvement of the cervical spine. After all relevant investigations and findings, the patient was treated with IV rituximab along with IV corticosteroids and oral azathioprine which improved the condition including the paralysis.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251374513"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086156","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":"Case Report: TNF-α Inhibitor-Associated Demyelinating Disease.","authors":"Christopher Tuohino, Trevor Cline","doi":"10.1177/23247096251381189","DOIUrl":"10.1177/23247096251381189","url":null,"abstract":"<p><p>Tumor necrosis factor-alpha inhibitors (TNF-αi's) such as Infliximab are effective treatments for various autoimmune diseases. However, in rare instances, they have been implicated in central nervous system demyelination. Typically, this side effect is seen within the first year of medication exposure. This case reports on the rare occurrence of a central demyelinating lesion secondary to Infliximab after several years of uncomplicated use. A 39-year-old, right-handed male with a history of ulcerative colitis (UC) was being maintained on infliximab therapy for several years before presenting to the emergency room. He reported weeks of intermittent, worsening left-sided extremity paresthesia and weakness. Initial workup ruled-out a stroke, but subsequent MRI revealed a strange right-sided cortical enhancement that anatomically corresponded to the patients' complaints. Ruling out other possibilities, the patient's TNF-αi medication became a concern. Treatment with corticosteroids and suspension of the patient's infliximab enabled a swift improvement and gradual full recovery. The patient's UC medication was subsequently changed as he returned to baseline. This case demonstrates a rare complication of a commonly prescribed medication that appeared well outside the timeframe of similar other case reports, highlighting the importance of considering TNF-αi side-effects as possible contributory factors to disease states even after many years of relative stability.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251381189"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12489185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199609","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":"Lofgren's Syndrome: A Unique Presentation of Sarcoidosis Masquerading as Lower Extremity Cellulitis.","authors":"Ritwik Dey, Lakshmi Kattamuri, Yagnapriya Chirrareddy, Eder Luna Ceron, Kunal Sharma, Osvaldo Padilla, Abhizith Deoker","doi":"10.1177/23247096251352366","DOIUrl":"10.1177/23247096251352366","url":null,"abstract":"<p><p>Löfgren's syndrome is an acute, self-limiting variant of sarcoidosis, typically presenting with erythema nodosum, bilateral hilar lymphadenopathy, and acute arthritis or periarthritis-most commonly involving the ankles. Its clinical overlap with other inflammatory conditions can pose a diagnostic challenge. We describe a 34-year-old male with no prior medical history who presented with bilateral ankle and foot pain, erythema, and swelling, initially diagnosed as cellulitis based on imaging findings. He has no response to broad-spectrum antibiotics. During his further hospital stay, he developed polyarthritis. Laboratory evaluation revealed neutrophilic leukocytosis, elevated inflammatory markers, and a normal serum angiotensin-converting enzyme level. Imaging showed bilateral hilar lymphadenopathy and intra-abdominal adenopathy. Bronchoscopy with bronchoalveolar lavage revealed an elevated CD4:CD8 ratio (5.0), and endobronchial ultrasound-guided transbronchial needle aspiration confirmed noncaseating granulomas. Infectious, autoimmune, and malignant causes were excluded. Based on clinical features and histology, a diagnosis of Löfgren's syndrome was established. Nonsteroidal anti-inflammatory drug therapy led to rapid clinical improvement, and antibiotics were discontinued. Löfgren's syndrome should be considered in patients presenting with bilateral lower extremity erythema and swelling unresponsive to antibiotics, especially when accompanied by systemic symptoms. Early thoracic imaging and consideration of sarcoidosis in the differential diagnosis can prevent misdiagnosis and unnecessary treatment.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251352366"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497336","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":"Breast Abscess Secondary to Brucellosis: A Rare Case Report.","authors":"Dar Hasan Abeer, Assaf Tasneem, Sharaf Razan, Ghanem Usra, Adwan Rabee","doi":"10.1177/23247096251347405","DOIUrl":"10.1177/23247096251347405","url":null,"abstract":"<p><p>Brucellosis is considered one of the most common bacterial zoonosis worldwide. It can affect any organ system and presents with many clinical manifestations related to the organ affected. It is quite uncommon for brucellosis to affect the breast. Here, we present a case of a 41-year-old female who presented with breast abscess associated with generalized symptoms such as fever, fatigue, epigastric pain, and arthralgia. Subsequent pus culture followed by blood culture confirms the diagnosis of brucellosis. This case emphasizes how crucial it is to take brucellosis into account when making a differential diagnosis for breast abscesses, especially in regions where the disease is endemic or in patients who have risk factors for zoonotic diseases.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251347405"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12206268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144528248","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":"Unlocking the Mystery: Resident-Led POCUS Intervention in Community Hospital Revealing Pericardial Tamponade in a Complex Case.","authors":"Diana Othon-Martinez, Oscar J Lopez, Jessica Daza, Barbara X Malaga-Espinoza, Shakirat Ganiyu, Aramide Tijani","doi":"10.1177/23247096241298172","DOIUrl":"10.1177/23247096241298172","url":null,"abstract":"<p><p>Pericardial effusions, though relatively rare, can lead to life-threatening complications such as cardiac tamponade. While viral etiologies are common culprits, rapid and accurate diagnosis remains challenging. We present the case of a 74-year-old male with a history of upper respiratory infection who developed sudden onset dyspnea and chest discomfort. Bedside point-of-care ultrasound (POCUS) revealed a large pericardial effusion, prompting urgent intervention. Despite initially stable vital signs, the patient rapidly deteriorated, necessitating emergent pericardiocentesis. Laboratory findings and pathology results eventually ruled out common viral causes, guiding diagnosis toward coxsackieviruses A and B, echovirus, adenoviruses, or influenza. This case highlights the critical role of POCUS in resident-led community hospitals, in expediting the diagnosis of pericardial effusions and underscores the need for prompt intervention in cases of cardiac tamponade to prevent adverse outcomes.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096241298172"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523689","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":"De Novo KCNJ11 Mutation in an Infant With Neonatal Diabetes Mellitus Presenting as Diabetic Ketoacidosis: A Case Report and Literature Review.","authors":"Ramzi H Mujahed, Amal M Shawabka, Natalia M Daghlis, Amal A Thweib, Howaida A Rabba, Taha Z Makhlouf","doi":"10.1177/23247096251368092","DOIUrl":"https://doi.org/10.1177/23247096251368092","url":null,"abstract":"<p><p>Neonatal diabetes mellitus (NDM) is a rare metabolic disorder that develops within the first 6 months of life and can have a wide clinical presentation which includes diabetic ketoacidosis (DKA). We describe a 56-day-old female with permanent NDM whose clinical presentation included polyuria, fever, vomiting, and dehydration. Laboratory workup indicated DKA. The patient started her treatment with subcutaneous insulin, but her blood sugar level was poorly controlled. She was later found to have a KCNJ11 mutation and was subsequently switched to sulfonylurea, which offered better control of blood sugars. Our case highlights the importance of recognizing signs and symptoms such as polyuria and vomiting along with the profound impact of genetic changes such as KCNJ11 in the pathophysiology of the condition. Genetic counseling is necessary for affected families, and increases awareness of potential complications, particularly those related to DKA and associated neurological risks.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251368092"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12374086/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957262","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}