AME Case Reports最新文献

{"title":"Individualized treatment of pregnancy-associated breast cancer: a report of two cases and literature review.","authors":"Yuanliang Wang, Yu Wang, Suhong Sun","doi":"10.21037/acr-24-223","DOIUrl":"https://doi.org/10.21037/acr-24-223","url":null,"abstract":"<p><strong>Background: </strong>Pregnancy-associated breast cancer (PABC) occurs during the special physiological period of female pregnancy, requiring a clinical approach that considers both the effectiveness of maternal treatment and the safety of the baby, creating a clinical challenge. This article discusses the diagnosis and treatment of two PABC cases and provides a thorough review of existing literature to offer insights for clinical practice.</p><p><strong>Case description: </strong>Patient A, a 41-year-old female at 30 weeks and 2 days of gestation, was diagnosed with left breast invasive carcinoma. Following one cycle of AC regimen chemotherapy, she successfully delivered a female infant at 35 weeks and 5 days of gestation. Subsequently, she received 5 cycles of THP regimen neoadjuvant therapy after childbirth. Then, she underwent left breast-conserving surgery and left axillary lymph node dissection. Postoperative pathology indicated pathologic complete response. Post-surgery, she received radiotherapy and targeted therapy. Patient B, a 33-year-old female at 27 weeks and 1 day of gestation, was diagnosed with left breast ductal carcinoma in situ (DCIS). She underwent left total mastectomy with left sentinel lymph node biopsy. Pathology post-surgery revealed intermediate-grade DCIS of the left breast concomitant with locally non-special type invasive carcinoma. No tumour metastasis was identified in the left sentinel lymph node. At 36 weeks of pregnancy, she delivered a male infant and subsequently received 4 cycles of AC regimen chemotherapy. After completing the chemotherapy, a newly formed mass was discovered in her right breast. Right breast mass mastectomy with vacuum assisted biopsy system was performed. Intraoperative pathology indicated intermediate-grade intraductal papillary carcinoma. During surgery, she underwent right total mastectomy and sentinel lymph node biopsy. Intraoperative frozen section analysis revealed the absence of tumour spread in the sentinel lymph nodes (0/8). Postoperatively, she received systematic endocrine therapy.</p><p><strong>Conclusions: </strong>Both patients had successful outcomes for the unborn babies following delivery. By prioritizing the safety of both the mother and the child, tailored breast cancer treatments were given to the two individuals, leading to effective therapy. Clinicians should increase their awareness and knowledge of PABC to avoid misdiagnosis or overlooking diagnoses.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"69"},"PeriodicalIF":0.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026303","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":"Robot-assisted partial gastrectomy with Billroth I anastomosis for gastric plexiform fibromyxoma in children: the first case report and literature review.","authors":"Zhihua Ye, Jixiao Zeng, Huizhen Lu, Fei Liu, Xiaogang Xu, Yuanyuan Luo, Hong Zhang, Menglong Lan, Boyuan Tao, Zijian Liang, Lini Wen","doi":"10.21037/acr-24-214","DOIUrl":"https://doi.org/10.21037/acr-24-214","url":null,"abstract":"<p><strong>Background: </strong>Plexiform fibromyxoma (PF) is an extremely rare mesenchymal tumor, which was first reported by Takahashi <i>et al.</i> in 2007 and named by the World Health Organization (WHO) in 2010 in the classification of digestive system tumors. Currently, only 123 cases have been reported globally, and complete surgical resection is the only effective treatment. On October 20, 2023, we successfully performed a robot-assisted partial gastrectomy with Billroth I anastomosis to remove gastric PF. Since the operation, the child has recovered well. After literature search and novelty confirmation, it was confirmed to be the first case globally (novelty confirmation number: 44011120230247C). Based on this, we reviewed relevant literature and summarized the surgical experience of this case.</p><p><strong>Case description: </strong>A 7-year-old Chinese female patient was admitted to Guangzhou Women and Children's Medical Center in October 2023. Due to \"pallor for 4 months and the discovery of a tumor in the gastric antrum over 2 weeks ago\", an enhancement CT scan revealed a mass in her gastric antrum, approximately 4.0 cm × 3.5 cm × 3.0 cm in size, but its nature remains to be determined. On electronic gastroscopy, a mass was identified in the gastric antrum and pylorus orifice. It exhibited a smooth surface, with its base located on the lesser curvature side and pylorus. We did robot-assisted partial gastrectomy with Billroth I anastomosis for her to remove the mass. Now it has been 11 months after the operation, and the child has recovered well with no sign of mass recurrence.</p><p><strong>Conclusions: </strong>This study confirms that the robot-assisted partial gastrectomy with Billroth I anastomosis for the treatment of gastric PF in children is safe and feasible, and there are no complications of the operation.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"70"},"PeriodicalIF":0.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049875","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: pembrolizumab-induced acute type 1 diabetes mellitus and diabetic ketoacidosis in a perioperative esophageal squamous cell carcinoma patient.","authors":"Jicheng Xiong, Jialong Li, Ziwei Wang, Simiao Lu, Shuoming Liang, Wenguang Xiao, Yongtao Han, Xuefeng Leng","doi":"10.21037/acr-24-159","DOIUrl":"https://doi.org/10.21037/acr-24-159","url":null,"abstract":"<p><strong>Background: </strong>Immune checkpoint inhibitor (ICI) therapy rarely results in severe immune-related adverse events (irAEs). Autoimmune diabetes, an uncommon but serious irAE, can be life-threatening if not promptly treated. Although ICIs have been widely used in cancer therapy, there have been no reported cases in China of autoimmune diabetes developing during the perioperative treatment of esophageal squamous cell carcinoma (ESCC). This case report provides a significant clinical contribution by presenting the first documented instance of such an occurrence, emphasizing the need for vigilance and appropriate management strategies.</p><p><strong>Case description: </strong>We present a 52-year-old male with locally advanced stage III locally advanced lower thoracic ESCC who developed type 1 diabetes mellitus (DM1) leading to diabetic ketoacidosis (DKA) after pembrolizumab treatment. The patient had no prior history of diabetes mellitus. He initially presented with progressive dysphagia and underwent two cycles of chemo-immunotherapy with albumin paclitaxel, carboplatin, and pembrolizumab as neoadjuvant therapy, followed by maintenance pembrolizumab after minimally invasive esophagectomy. Following the fifth course, he was admitted to the hospital in a comatose state and quickly diagnosed with DKA. Hemoglobin A1c (HbA1c) was 7.3%, and fasting C-peptide and insulin assays were significantly low. Detailed blood glucose levels and HbA1c were monitored before pembrolizumab initiation, and pre-treatment levels were normal. Pathological examination confirmed a moderately differentiated ESCC with no signs of metastatic disease. The patient received prompt multidisciplinary treatment and has been under follow-up for 10 months with no recurrence of ESCC but requiring ongoing management of diabetes.</p><p><strong>Conclusions: </strong>In summary, this case highlights the rare but potentially life-threatening risk of autoimmune diabetes following pembrolizumab therapy in ESCC patients. The unique clinical contributions of this case include identifying the onset of DM1 during the perioperative period and emphasizing the importance of early detection of DKA symptoms. Clinicians should remain vigilant for such irAEs, ensuring regular monitoring of blood glucose and thyroid function in patients undergoing ICI therapy. Further research is needed to clarify the pathogenesis of pembrolizumab-induced diabetes and develop guidelines for monitoring and managing these adverse events in ESCC patients.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"61"},"PeriodicalIF":0.7,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056511","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 mycosis fungoides with porokeratosis-like lesions: a case report and review of previous literature.","authors":"Salim S Alkeraye, Turky N Alsehli, Ahmed Alhumidi, Khalid Al-Husain, Khalid Nabil Nagshabandi","doi":"10.21037/acr-24-210","DOIUrl":"https://doi.org/10.21037/acr-24-210","url":null,"abstract":"<p><strong>Background: </strong>Cutaneous T-cell lymphomas (CTCLs) are the second most prevalent group of extranodal lymphomas second to B-cell lymphomas. Mycosis fungoides (MF) is the most common type of CTCL, often presenting as erythematous patches and plaques with scaling. However, MF is known for its wide range of clinical presentations, making it a \"great mimicker\" of other dermatological conditions. It can manifest as hypopigmented, hyperkeratotic, or purpuric lesions, among others, contributing to frequent diagnostic challenges. Porokeratosis-like MF is an exceedingly rare variant, with only a few cases reported in the literature. This case report describes a unique presentation of MF mimicking porokeratosis.</p><p><strong>Case description: </strong>A 44-year-old male presented with brownish papules on the feet, showing porokeratosis-like features upon clinical presentation. Histopathological examination and immunohistochemistry revealed a profile consistent with MF, demonstrating band-like infiltrate of lymphocytes in the papillary dermis and CD7 loss and CD8 positivity in both the epidermis and dermis. The patient was treated with topical Clobetasol propionate, showing partial improvement over a biweekly follow-up period of three months with no recurrence observed to date.</p><p><strong>Conclusions: </strong>This case underscores the importance of considering MF in atypical porokeratosis presentations. A thorough clinicopathologic correlation is vital for accurate diagnosis and management of such unusual MF variants.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"67"},"PeriodicalIF":0.7,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001836","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":"Analysis of misdiagnosis and mistreatment of 11 cases of non-tuberculous testicular abscess: case series.","authors":"Yanmei Li, Zhuorui Zhang, Liangyun Zhao","doi":"10.21037/acr-24-222","DOIUrl":"https://doi.org/10.21037/acr-24-222","url":null,"abstract":"<p><strong>Background: </strong>Non-tuberculous testicular abscess is primarily a late-stage development complication of urological inflammation. As the disease progresses, some cases' imaging, laboratory results, and clinical symptoms are not typical enough, which frequently results in delayed treatment or a misdiagnosis that necessitates a non-essential orchiectomy. We analyze and summarize the data related to the surgical treatment of non-tuberculous testicular abscesses diagnosed in our hospital in order to help with the clinical diagnosis of related diseases and the choice of treatment. This is done through the analysis and summary of the pertinent data on the diagnosis of non-tuberculous testicular abscess for surgical treatment at our hospital.</p><p><strong>Case description: </strong>Clinical information for 11 patients with testicular abscesses who were diagnosed for surgical treatment in our hospital between 2006 and 2023 was retrospectively examined. Out of the eleven patients with nontuberculous testicular abscesses who had postoperative testicular pathology confirm the diagnosis, five had imaging-diagnosed testicular infarcts, two received orchiectomy due to misdiagnosis of testicular tumors, and one had an incorrect diagnosis of testicular torsion.</p><p><strong>Conclusions: </strong>Non-tuberculous testicular abscesses can present with a wide range of unusual clinical signs, making a diagnosis difficult to make. In order to reduce the risk of orchiectomy and testicular atrophy, the foundation of clinical therapeutic decision-making is to obtain a precise diagnosis whenever feasible and to intervene as soon as necessary with incision and decompression.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"38"},"PeriodicalIF":0.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051179","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 series of adult Wilms' tumor and review of the literature.","authors":"Ying He, Fan Yang, Qi Gao, Yu Xiang, Zhong Chen, Xiaoqin Chen, Yang Luan","doi":"10.21037/acr-24-208","DOIUrl":"https://doi.org/10.21037/acr-24-208","url":null,"abstract":"<p><strong>Background: </strong>Adult Wilms' tumor (AWT) is extremely rare in clinics and very difficult to diagnose preoperatively. However, a unified treatment plan of AWT is lacking and the prognosis is unfavorable. This study will present the follow-up data of AWT cases in Tongji Hospital and discuss the diagnosis, treatment, and prognosis of AWT.</p><p><strong>Case description: </strong>The clinical data of four AWT cases admitted to the Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from August 2010 to January 2019 were followed up and analyzed. The mean age of the three males and one female patients was 38 years old. One case was admitted due to lumbar and abdominal distension, one case due to renal occupancy found on routine physical examination, and the other two cases due to lumbar pain with painless gross hematuria. The tumors were 4-10 cm in size, three of which were confined to the kidney, and one case invaded the inferior vena cava. Four cases were treated surgically: three with radical nephrectomy and one with partial nephrectomy. Two cases were treated with postoperative adjuvant chemotherapy (one case received the actinomycin D + vincristine regimen and pirarubicin + vincristine regimen; another case was treated with etoposide + carboplatin and cyclophosphamide + vincristine + adriamycin), and the other two cases were received postoperative follow-up only. Similar cases were reviewed in the literature. According to the postoperative pathology, one case was AWT germ type, two cases were AWT epithelial type, and one case was AWT mixed type. Two cases were classified in stage I, one case in stage II, and one case in stage III. All cases were followed up over 5 years, with two deaths and two survivals and a mean progression-free survival of 39 months.</p><p><strong>Conclusions: </strong>AWT is a relatively rare malignant tumor with a low preoperative diagnostic accuracy and a poorer prognosis than children. Early diagnosis, successful surgery, and standardized postoperative adjuvant therapy according to pathological typing and staging are the key points to improve the survival of AWT patients.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"39"},"PeriodicalIF":0.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987952","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 of high-grade B-cell lymphoma with <i>MYC</i> and <i>BCL2</i> rearrangements presenting as compartment syndrome of the leg.","authors":"Xin Wang, Noureldien Darwish, Xiaoyan Huang","doi":"10.21037/acr-24-154","DOIUrl":"https://doi.org/10.21037/acr-24-154","url":null,"abstract":"<p><strong>Background: </strong>Diffuse large B-cell lymphoma (DLBCL)/high-grade B-cell lymphoma with MYC and BCL2 rearrangements (\"double-hit\" lymphoma) is an uncommon subtype of mature B-cell lymphoma characterized by the concurrent rearrangements of MYC and BCL2 oncogenes. Rarely, aggressive high-grade lymphomas manifest as compartment syndrome, necessitating urgent surgical intervention. Here, we describe a case of high-grade B-cell lymphoma with an unusual presentation of compartment syndrome.</p><p><strong>Case description: </strong>A 68-year-old woman presented to the emergency room with increased swelling and pain in her right leg, was subsequently diagnosed with right thigh compartment syndrome, and underwent urgent fasciotomy followed by repeat debridement in the medical wound closure. Additionally, the patient was found to have inguinal and external iliac lymphadenopathy along with deep vein thrombosis (DVT). Her past medical history included human immunodeficiency virus (HIV) infection, which was well-controlled with bictegravir, emtricitabine, and tenofovir alafenamide. Excisional biopsy of the right thigh muscle and fluorescence in situ hybridization (FISH) analysis confirmed the diagnosis of high-grade B-cell lymphoma with <i>MYC</i> and <i>BCL2</i> gene rearrangements arising in the setting of immunodeficiency/dysregulation (lymphoma associated with HIV infection). Despite aggressive medical management in the intensive care unit, the patient succumbed to the disease and ultimately died from sepsis and hemorrhagic shock.</p><p><strong>Conclusions: </strong>High-grade B-cell lymphoma with MYC and BCL2 rearrangements represents an aggressive lymphoma with a poor prognosis. The unusual manifestation of this lymphoma involving skeletal muscle and presenting as compartment syndrome is rare. Unfortunately, the patient passed away shortly after undergoing debridement surgery. This case highlights the importance for clinicians to be vigilant and attentive to atypical presentations, as delays in diagnosis and treatment can have significant consequences. Early recognition and prompt intervention are crucial in saving the patient's life.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"62"},"PeriodicalIF":0.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001060","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":"Difficult insertion of a transesophageal echocardiography probe for cardiac surgery not only before but also immediately after thyroid goiter resection in a patient with chronic esophageal compression by the goiter: a case report.","authors":"Masataka Fukuda, Tsukasa Kochiyama, Kota Aono, Shuhei Yonemoto, Megumi Hayashi, Masakazu Hayashida, Izumi Kawagoe","doi":"10.21037/acr-24-241","DOIUrl":"https://doi.org/10.21037/acr-24-241","url":null,"abstract":"<p><strong>Background: </strong>Transesophageal echocardiography (TEE) is an essential tool during minimally invasive cardiac surgery (MICS), although inserting a TEE probe is sometimes challenging. We experienced difficult placement of an adult TEE probe for cardiac surgery due to chronic compression of the esophagus by thyroid goiter. The aim of this case report is to highlight the challenges of TEE probe insertion due to chronic esophageal compression caused by a thyroid goiter and to discuss considerations for simultaneous thyroid tumor resection and mitral valvuloplasty (MVP).</p><p><strong>Case description: </strong>A 78-year-old man (170 cm, 68 kg) with severe mitral regurgitation (MR) was scheduled for simultaneous thyroid surgery and MVP, since preoperatively, experienced cardiologists had failed to place an adult TEE probe for preoperative TEE examinations, and they had had to use a pediatric TEE probe with poor image quality. First, otolaryngologists completely resected the left thyroid lobe including goiter. However, even after tumor resection, experienced anesthesiologists could not advance the adult TEE probe beyond the pharynx due to strong resistance, even using video laryngoscopy to visualize the esophageal inlet. Again, they had to use a pediatric probe for intraoperative evaluation.</p><p><strong>Conclusions: </strong>Such previously unreported experiences suggested that esophageal stenosis due to chronic compression by goiter would not improve completely at least immediately after tumor resection. When usual TEE probe placement is difficult, alternative methods for assessing the mitral valve (MV) should be considered.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"63"},"PeriodicalIF":0.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043388","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 Lyme neuroborreliosis with predominant myelitis in a patient with neuropsychiatric presentation: a case report.","authors":"Sandra Duong, Nicole Rudolph, Sabine Majer","doi":"10.21037/acr-24-202","DOIUrl":"https://doi.org/10.21037/acr-24-202","url":null,"abstract":"<p><strong>Background: </strong>Late Lyme neuroborreliosis (LNB) can develop gradually over months or years. Diagnosis can be very difficult, resulting in treatment delay and higher risk of sequelae. By publishing this case report, we hope to highlight the difficulties associated with Lyme disease in a patient with assumed psychosomatic disorder.</p><p><strong>Case description: </strong>We present the case of a 54-year-old patient with late LNB presenting predominantly with myelitis. The patient suffered from symptoms for more than 1.5 years before a diagnosis was made through testing of cerebrospinal fluid (CSF) samples and magnetic resonance imaging (MRI) of the spine. MRI revealed signs of a long ranging myelopathy with a dull signal alteration in the spinal cord. CSF samples displayed lympho-monocytic pleocytosis, plasma cells and Borrelia-specific intrathecal antibodies. The long delay before diagnosis and ultimately the start of antibiotic treatment was likely influenced by the initial attribution of symptoms to psychosomatic causes.</p><p><strong>Conclusions: </strong>LNB presents with variable and often nonspecific symptoms, making diagnosis difficult. Early warning signs may be overlooked, especially in patients with comorbidities or psychiatric history. Treatment delay increases the risk of residual symptoms. This case highlights the difficulties surrounding LNB and underlines the importance of an individualized and thorough diagnostic approach, regardless of pre-existing conditions.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"59"},"PeriodicalIF":0.7,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064851","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 missense mutations in Dystonin lead to epidermolysis bullosa simplex complicated with lepromatous leprosy: a case report.","authors":"Lina Al-Quran, Guiyue Cai, Rongyi Chen, Yongfeng Chen","doi":"10.21037/acr-24-167","DOIUrl":"https://doi.org/10.21037/acr-24-167","url":null,"abstract":"<p><strong>Background: </strong>Epidermolysis bullosa (EB) is a severe, single-gene hereditary skin condition characterized by blisters, bullae, and erosion following minor trauma. Epidermolysis bullosa simplex (EBS), one of the four major types of EB, is typically caused by mutations in the <i>KRT5</i> or <i>KRT14</i> genes. However, mutations in the Dystonin (<i>DST</i>) gene, which is also involved in maintaining skin integrity, can lead to EBS. This study aims to report a unique case of EBS caused by two novel heterozygous mutations in the <i>DST</i> gene, complicated by lepromatous leprosy (LL), a chronic infectious disease caused by <i>Mycobacterium leprae</i> (M. leprae). These mutations, not previously reported in the literature, expand the known spectrum of <i>DST</i>-related EBS and highlight the importance of comprehensive diagnostic approaches in patients with complex skin conditions.</p><p><strong>Case description: </strong>This report describes a 32-year-old man presented with erythema, blisters and yellow nodules on his limbs, initially diagnosed as bullous pemphigoid (BP). Over time, his symptoms evolved to include features of LL and erythema nodosum leprosum (ENL), a severe inflammatory reaction often associated with leprosy. Further genetic testing revealed two missense mutations in the <i>DST</i> gene: c.5972A>G(p.Asn1991Ser) and c.5137A>G(p.Asn1713Asp). Both variants were predicted to be damaging by in silico analyses and are rare in population databases. The patient was diagnosed with EBS that causes the skin to be very fragile and blister easily. The combination of EBS, LL and ENL is rare.</p><p><strong>Conclusions: </strong>This case highlights EBS caused by <i>DST</i> mutations, emphasizing the importance of comprehensive diagnostic workup in patients with bullous diseases. Additionally, it underscores the importance of rational glucocorticoid use and careful skin wound care in treating bullous skin diseases.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"49"},"PeriodicalIF":0.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015093","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}