{"title":"Idiopathic calcinosis cutis of scrotum (ICCS): excision with scrotoplasty.","authors":"Karthick Ganesan, Neeraj Kumar, Shruthi Chandrasekar, Maneesh Singhal","doi":"10.1136/bcr-2024-259920","DOIUrl":"https://doi.org/10.1136/bcr-2024-259920","url":null,"abstract":"<p><p>Scrotal calcinosis is an infrequent benign pathological condition characterised by the presence of multiple calcified nodules on the skin of the scrotum. Despite the formulation of several theories, the precise pathogenesis of this condition remains a subject of controversy within the scientific community. The predominant concern associated with scrotal calcinosis is of an aesthetic nature, and histological examination serves as the definitive method for confirmation of the diagnosis. The manifestation of scrotal nodules and cysts is an uncommon occurrence, and in cases where these manifestations are asymptomatic, the diagnostic timeframe may extend over several years, potentially spanning decades. Surgical excision of the calcified lesions is the established treatment modality, serving both diagnostic and therapeutic objectives.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2024-11-19DOI: 10.1136/bcr-2024-261909
Anupama Tandon, Fozia Raza, Rajesh Tandon, Anwer Alam
{"title":"Caffey disease in an infant.","authors":"Anupama Tandon, Fozia Raza, Rajesh Tandon, Anwer Alam","doi":"10.1136/bcr-2024-261909","DOIUrl":"https://doi.org/10.1136/bcr-2024-261909","url":null,"abstract":"<p><p>A previously healthy female infant was brought to the paediatrics outpatient department by her mother reporting increased irritability and swelling behind her left shoulder, accompanied by restricted movement in her left arm. The irritability had been present for the past 5 months, with swelling also noticed at that time, gradually increasing in size. On examination, a large, firm, immobile mass was detected on the left scapular region. The mass was tender to touch, without any hardening or induration of the overlying skin. The child was afebrile, and her vital signs were stable. Subsequent imaging revealed hyperostosis in the left scapula, along with swelling of the surrounding soft tissue. After ruling out conditions such as chronic osteomyelitis, Ewing's sarcoma, rhabdomyosarcoma, trauma or child abuse, chronic recurrent multifocal osteomyelitis and hypervitaminosis A, the findings pointed to Caffey disease. Although infantile cortical hyperostosis, or Caffey disease, is rare, it should be considered in the differential diagnosis of a bony swelling in a young child.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2024-11-19DOI: 10.1136/bcr-2024-262775
Darcy Noll, Richard Steele
{"title":"Late metastasis of rectal adenocarcinoma to the penis.","authors":"Darcy Noll, Richard Steele","doi":"10.1136/bcr-2024-262775","DOIUrl":"https://doi.org/10.1136/bcr-2024-262775","url":null,"abstract":"<p><p>Rectal cancer metastasising to the penis is an exceptionally rare clinical entity, with less than 80 reported cases. Metastasis to the penis is typically identified in conjunction with widespread metastatic disease and as such is usually associated with a very poor prognosis. We report a case of a man who presented with a metastatic deposit in his penis 15 years after the initial diagnosis of rectal cancer. The patient was initially managed with radical penectomy and perineal urethrostomy formation. This was followed by FOLFIRI chemotherapy regimen when further nodules were identified in his lungs on postoperative imaging. At 20months' follow-up, the patient remains alive and disease-free.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2024-11-19DOI: 10.1136/bcr-2024-260284
Shaun Chandler, Dharmenaan Palamuthusingam
{"title":"Atypical anti-GBM disease in pregnancy.","authors":"Shaun Chandler, Dharmenaan Palamuthusingam","doi":"10.1136/bcr-2024-260284","DOIUrl":"https://doi.org/10.1136/bcr-2024-260284","url":null,"abstract":"<p><p>A woman in her 20s presented with nephrotic syndrome and hyperemesis in early pregnancy. Pertinent initial investigations revealed a severe acute kidney injury, a serum albumin of 19 g/L, a random protein creatinine ratio of 800 g/mol and microscopic haematuria. All immunological and infection serology testing including anti-glomerular basement membrane (anti-GBM; ELISA) were negative. Kidney biopsy demonstrated diffuse crescentic glomerulonephritis with cellular crescents involving >90% of glomeruli, with immunofluorescence demonstrating intense linear reactivity for IgG consistent with atypical anti-GBM glomerular nephritis. Early pregnancy termination and treatment with immunosuppression were chosen after shared decision-making between the patient and physician. The patient had a poor response to treatment and remained dialysis dependent 12 months later.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mesentero-axial gastric volvulus with gastric outlet obstruction.","authors":"Saraswathula Bharadwaj, Shirish Vaidya, Pratapsingh Parihar, Gaurav Vedprakash Mishra","doi":"10.1136/bcr-2024-260879","DOIUrl":"https://doi.org/10.1136/bcr-2024-260879","url":null,"abstract":"<p><p>This case report describes a woman in her late 50s with mesenteric volvulus, an uncommon and potentially fatal condition. She developed excessive abdominal distension, nausea and vomiting for a duration of 2 days. The preliminary ultrasound indicated a large, thick-walled, tight fluid region in her upper abdomen, indicating a probable gastric outlet obstruction. A subsequent contrast-enhanced CT scan of the abdomen confirmed the diagnosis, showing significant distension of the stomach with a thick septum displacing adjacent organs. The mesenteric volvulus was surgically treated as an emergency to restore blood flow to the afflicted mesentery. This condition poses a serious concern due to decreased blood flow and ischaemia, and this example emphasises the necessity of a CT scan for early and precise diagnosis and offers a comprehensive insight into the nature of the volvulus, resulting in prompt surgical treatment and improved patient outcome.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2024-11-19DOI: 10.1136/bcr-2024-261989
Anya Ertmann, Rachael E Thompson, Zhe Hui Hoo, Frank P Edenborough
{"title":"Severe lactic acidosis associated with oral linezolid.","authors":"Anya Ertmann, Rachael E Thompson, Zhe Hui Hoo, Frank P Edenborough","doi":"10.1136/bcr-2024-261989","DOIUrl":"https://doi.org/10.1136/bcr-2024-261989","url":null,"abstract":"<p><p>We present the case of a patient with cystic fibrosis on long-term oral linezolid treatment for <i>Mycobacteria abscessus</i> lung infection who developed severe linezolid-induced lactic acidosis (LILA) resulting in deranged clotting and pancytopenia. The lactic acidosis was resistant to treatment with intravenous fluid but resolved within 20 hours of initiating continuous veno-venous haemofiltration. An unintended consequence of haemofiltration was that vascular access interfered with effective chest physiotherapy, resulting in worsened lung consolidation requiring prolonged intravenous antibiotic therapy for coexisting <i>Pseudomonas aeruginosa</i> infection. Given the potential mortality and morbidity of LILA, monitoring lactate levels may be clinically important but the optimum timing of monitoring is currently unclear.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2024-11-18DOI: 10.1136/bcr-2023-256475
Faisal Ansari, Yurhee Lee, Umar Ansari, Phyllis Kim
{"title":"Acquired factor V inhibitor treated with rituximab.","authors":"Faisal Ansari, Yurhee Lee, Umar Ansari, Phyllis Kim","doi":"10.1136/bcr-2023-256475","DOIUrl":"10.1136/bcr-2023-256475","url":null,"abstract":"<p><p>Acquired factor V (FV) inhibitors are extremely rare and present with a broad spectrum ranging from asymptomatic laboratory anomalies to life-threatening critical bleeds. The overall rarity along with the heterogeneity of clinical presentations poses a challenge in diagnosis. There is currently no standard of care immunosuppressive therapy (IST) in these settings. Most patients in the literature receive multiple agents, including but not limited to combinations of IST and/or recombinant products.Here, we present a case of a man in his 50s who initially presented with oozing at peripheral IV and tracheostomy sites with intermittent epistaxis. He was later found to have an FV activity level of less than 1% and an FV inhibitor titre of 184 Bethesda units/mL. The patient was initially stabilised with fresh frozen plasma, platelets and tranexamic acid and treated with intravenous immunoglobulin and glucocorticoids. However, this resulted in only mild improvement in his coagulation studies. He was then treated with weekly doses of rituximab for 4 weeks with ongoing glucocorticoids without complications. This adds to the growing literature on rituximab as a possible treatment option for acquired FV inhibitors.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2024-11-18DOI: 10.1136/bcr-2024-261987
T Michael Farley, Daniel J Leary, Faith R Poelker
{"title":"Successful oral phytonadione (vitamin K) challenge following an infusion-related reaction to intravenous phytonadione.","authors":"T Michael Farley, Daniel J Leary, Faith R Poelker","doi":"10.1136/bcr-2024-261987","DOIUrl":"10.1136/bcr-2024-261987","url":null,"abstract":"<p><p>A woman in her early 60s presented to the emergency room with worsening pain 10 days after an injury to her right abdomen. CT revealed a large subcutaneous haematoma and contained small bowel perforation. She was tachycardic and anaemic and her international normalized ratio (INR) was 2.6 on warfarin for atrial fibrillation. General surgery was consulted and percutaneous drainage of the perforation was recommended, requiring an INR of 1.5 or less. Intravenous (IV) phytonadione was administered to accelerate the lowering of INR; however, the patient developed a severe infusion-related reaction. She recovered once IV phytonadione was stopped and oral diphenhydramine was administered. However, there was still a need for warfarin reversal therapy. A 1.25 mg dose of oral phytonadione was trialled 2.5 hours later and well tolerated. An additional rechallenge of 5 mg by mouth was given without reaction (<8 hours after the initial reaction). Her INR was 1.5 the next morning.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2024-11-17DOI: 10.1136/bcr-2024-262718
Rachel Seunah Kim, Uzung Yoon
{"title":"Unexpected normal ROTEM results in protein C deficiency with IVC thrombosis.","authors":"Rachel Seunah Kim, Uzung Yoon","doi":"10.1136/bcr-2024-262718","DOIUrl":"https://doi.org/10.1136/bcr-2024-262718","url":null,"abstract":"<p><p>Protein C deficiency is a hereditary disorder that increases the risk of thrombotic events but has unclear effects on rotational thromboelastometry (ROTEM) analysis. A man in his 60s with a history of protein C deficiency and multiple thrombotic events underwent inferior vena cava (IVC) filter removal, iliocaval thrombectomy and infrarenal IVC placement for IVC-related complete iliocaval and common femoral vein thromboses. A ROTEM analysis showed normal coagulation in NATEM and EXTEM and only a slight shortening in A10 and A20 in INTEM, which was unexpected given his diagnosis of protein C deficiency. Normal results indicate that there is complexity and variability of coagulation to maintain a balanced state even in individuals with underlying coagulation disorders.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142646608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2024-11-14DOI: 10.1136/bcr-2024-260740
Jan Albers, Harald Seeger, David Jayne, Andrea Elisabeth Fisler
{"title":"ANCA-associated vasculitis with slowly progressive renal dysfunction: a little-known but treatable disease.","authors":"Jan Albers, Harald Seeger, David Jayne, Andrea Elisabeth Fisler","doi":"10.1136/bcr-2024-260740","DOIUrl":"10.1136/bcr-2024-260740","url":null,"abstract":"<p><p>The clinical spectrum of antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) with renal involvement includes forms with a slowly progressive course. These forms are poorly recognised and, therefore, often associated with misdiagnosis and delayed treatment. We present here a case of slowly progressive AAV with renal involvement. A patient in her 50s with long-standing hypertension was evaluated for chronic renal impairment. Laboratory diagnostics revealed mild glomerular disease with relevant proteinuria and glomerular microhaematuria. Furthermore, significantly elevated ANCA of the antimyeloperoxidase (MPO-ANCA) type was detected. Renal biopsy provided evidence of arteriolosclerosis with an increased number of obliterated glomeruli but no evidence of active glomerulonephritis. The initiation of immunosuppressive therapy led to an improvement in both the clinical and the laboratory courses.Our case emphasises the importance of ANCA testing, particularly in cases of unclear glomerulopathy with an atypical presentation of ANCA-associated glomerulonephritis. It also illustrates the diagnostic challenges often encountered with slowly progressive AAV.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}