Diagnose

诊断
  • 文章类型: Case Reports
    上皮样血管内皮瘤(EHE)是一种罕见的具有转移潜力的血管肿瘤。EHE可以有单器官或多器官受累,表现从无症状疾病到疼痛和全身症状。极其异质性的临床表现和疾病进展使EHE诊断和管理复杂化。我们介绍了一个24岁的女性,患有两个耳周红斑丘疹,导致通过常规活检发现转移性EHE,尽管有非贡献病史。组织学显示上皮样细胞和含有红细胞的空泡的真皮增殖。与EHE一致的免疫组织化学标记巩固了诊断。虽然极为罕见,EHE的及时诊断对于知情决策和有利结果至关重要.强调了关键的临床和组织病理学发现,以帮助皮肤科医生诊断和管理这种罕见的疾病。
    Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor with metastatic potential. EHE can have single- or multiorgan involvement, with presentations ranging from asymptomatic disease to pain and systemic symptoms. The extremely heterogeneous clinical presentation and disease progression complicates EHE diagnosis and management. We present the case of a 24-year-old woman with two periauricular erythematous papules, leading to the discovery of metastatic EHE through routine biopsy, despite a noncontributory medical history. Histology revealed the dermal proliferation of epithelioid cells and vacuoles containing red blood cells. Immunohistochemistry markers consistent with EHE solidified the diagnosis. Although extremely rare, prompt diagnosis of EHE is essential for informed decision-making and favorable outcomes. Key clinical and histopathological findings are highlighted to aid dermatologists in diagnosing and managing this uncommon condition.
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  • 文章类型: Case Reports
    慢性炎症性脱髓鞘性多发性神经病(CIDP)是一种获得性免疫介导的神经病,其临床进展超过2个月。16-20%的CIDP患者可能出现类似于GBS的快速进行性无力,称为急性发作期CIDP(A-CIDP)。然而,由于GBS-TRF具有相似的临床症状和特征,因此难以区分它们.在这种情况下,审查,我们报告了一名A-CIDP患者,检测到抗GM3和抗硫酸盐抗体,这很少出现在A-CIDP中,可能是她进行性和复发性症状的原因。
    我们分析了现有的医学文献,并描述了抗体阳性的A-CIDP的临床病例。
    我们报告了一名56岁女性,表现为双侧下肢无力和远端麻木。她经历了四次类似的症状,对IVIg治疗反应良好。腰椎穿刺显示白蛋白细胞学分离,EDX检查显示多发性周围神经损伤。排除其他脱髓鞘疾病后,诊断为A-CIDP.
    抗神经节苷脂和抗硫酸脂抗体参与CI-DP发病机制,有助于区分A-CIDP和其他变体。为了防止二次损坏,重要的是监测治疗线的复发和缓解症状。讨论了一种罕见的A-CIDP病例,涉及抗GM3和抗硫酸盐抗体的检测,因此对一些文献中的抗体进行回顾性比较,以更好地理解A-CIDP.
    UNASSIGNED: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immune-mediated neuropathy defined by clinical progression for more than 2 months. 16-20% of CIDP patients may present with rapidly progressive weakness that resembles GBS, known as acute-onset CIDP (A-CIDP). However, it is challenging to distinguish from GBS-TRF because of their similar clinical symptom and features. In this case review, we report a patient with A-CIDP with the detection of anti-GM3 and anti-sulfatides antibodies, which rarely have been in A-CIDP and may account for her progressive and recurrent symptoms.
    UNASSIGNED: We analyzed existing medical literature and described a clinical case of A-CIDP with antibodies positive.
    UNASSIGNED: We reported a 56-year-old female presented with bilateral lower extremity weakness and distal numbness. She experienced similar symptoms four times and responded well to the IVIg therapy. Lumbar puncture demonstrated albumin-cytologic dissociation and EDX examination revealed multiple peripheral nerve damage. After ruling out other demyelination diseases, a diagnosis of A-CIDP was made.
    UNASSIGNED: The antiganglioside and anti-sulfatide antibodies are involved in CIDP pathogenesis and can help to distinguish A-CIDP and other variants. To prevent secondary damage, it is important to monitor relapse and remission symptoms along the treatment line. A rare case of A-CIDP is discussed concerning the detection of anti-GM3 and anti-sulfatides antibodies, thus making a retrospective comparison of antibodies in some literature to understand A-CIDP better.
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  • 文章类型: Case Reports
    背景:肺泡包虫病(AE),由多房棘球蚴的幼虫形式引起,是一种影响肝脏的人畜共患疾病,肺,淋巴结,肾脏,大脑,骨头,甲状腺,和其他器官。在非流行区诊断AE通常具有挑战性。近年来随着测序技术的迅速发展和应用,宏基因组下一代测序(mNGS)已成为诊断罕见传染病的有力工具。
    方法:一名45岁女性因肺部阴影出现超过3个月而入院。当地医院的肺部计算机断层扫描(CT)显示左上叶分散的实性和准圆形结节,左下叶,右中叶,和右下叶。最大结节位于右肺背侧,尺寸为2.0×1.7×1.5厘米。此外,腹部CT显示左叶和右叶各一个占位病变。肺活检标本的病理分析显示淋巴细胞浸润,浆细胞,和嗜酸性粒细胞在肺泡壁和间质区。痰涂片和培养试验均未见病原菌。粪便中没有寄生虫卵。肺穿刺组织的mNGS显示6156个序列读数匹配多房性大肠杆菌;因此,诊断为AE。阿苯达唑400毫克,每天两次,患者在随访期间保持稳定。
    结论:本病例强调了mNGS在诊断AE中的作用。作为小说,敏感,和准确的诊断方法,mNGS可能是促进早期诊断和及时治疗传染病的一种有吸引力的方法,特别是当感染是由罕见的病原体引起时。
    BACKGROUND: Alveolar echinococcosis (AE), caused by the larval forms of Echinococcus multilocularis, is a zoonotic disease affecting the liver, lungs, lymph nodes, kidneys, brain, bones, thyroid, and other organs. Diagnosing AE in a non-endemic area is usually challenging. With the rapid development and increasing application of sequencing techniques in recent years, metagenomic next-generation sequencing (mNGS) has become a powerful tool for diagnosing rare infectious diseases.
    METHODS: A 45-year-old woman was admitted to the hospital for the presence of pulmonary shadows for more than 3 months. The lung computed tomography (CT) at a local hospital revealed scattered solid and quasi-circular nodules in the left upper lobe, left lower lobe, right middle lobe, and right lower lobe. The largest nodule was located in the dorsal part of the right lung, measuring 2.0 × 1.7 × 1.5 cm. Moreover, abdominal CT revealed one space-occupying lesion each in the left and right lobes. The pathological analysis of the lung biopsy specimen revealed infiltration of lymphocytes, plasma cells, and eosinophils in the alveolar wall and interstitial area. No pathogenic bacteria were observed in the sputum smear and culture tests. There were no parasite eggs in the stool. The mNGS of the lung puncture tissue revealed 6156 sequence reads matching E. multilocularis; thus, the condition was diagnosed as AE. Albendazole 400 mg was administered twice daily, and the patient was stable during follow-up.
    CONCLUSIONS: This case emphasizes the role of mNGS in diagnosing AE. As a novel, sensitive, and accurate diagnostic method, mNGS could be an attractive approach for facilitating early diagnosis and prompt treatment of infectious diseases, especially when the infection was caused by rare pathogens.
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  • 文章类型: Case Reports
    背景:Rosai-Dorfman病(RDD),称为窦组织细胞增生症伴大量淋巴结肿大,通常累及颈部或纵隔的淋巴结,尽管在大约40%的RDD患者中观察到结外受累。很少报道仅涉及胸腺的RDD。这里,我们报告一例起源于胸腺的RDD。手术切除了病灶,终于治愈了。电话随访3年无复发。
    方法:一名52岁男性,通过胸部计算机断层扫描(CT)意外发现有一个7×6cm的前纵隔肿块。纵隔病灶经手术切除,术后病理显示RDD起源于胸腺。术后定期电话随访3年,患者病情良好,无相关症状。
    结论:起源于胸腺的RDD无法从CT图像中得到表征,容易被误诊为传统的纵隔肿瘤。这主要是因为这方面的疾病很少,以至于医生没有意识到这一点。我们报告此病例,希望临床医生对这种疾病有更好的了解。根据我们的随访结果,手术是一种有效的治疗手段。
    BACKGROUND: Rosai-Dorfman disease (RDD), known as sinus histiocytosis with massive lymphadenopathy, commonly involves lymph nodes in the neck or mediastinum, although extranodal involvement is observed in approximately 40% of RDD patients. RDD involving only the thymus has rarely been reported. Here, we report a case of RDD originating in the thymus. The lesion was surgically removed, and a cure was finally achieved. There was no recurrence after telephone follow-up for 3 years.
    METHODS: A 52-year-old male was accidentally found to have a 7 × 6 cm anterior mediastinum lump by chest computed tomography (CT). The mediastinal lesion was resected by surgery, and postoperative pathology revealed RDD originating from the thymus. Regular telephone follow-up after surgery lasted 3 years and showed that the patient remained in good condition without any relevant symptoms.
    CONCLUSIONS: RDD originating in the thymus cannot be characterized from CT images and is easily misdiagnosed as a traditional mediastinal tumor. This is mainly because there is so little disease in this area that physicians are not aware of it. We report this case with the hope that clinicians will have a better understanding of this disease. According to our follow-up results, surgery is an effective means of treatment.
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  • 文章类型: Case Reports
    琥珀酸脱氢酶(SDH)缺乏的肾细胞癌(RCC)是由SDH基因的杂合致病性种系变体引起的常染色体显性综合征。SDH突变与发展为RCC的风险增加有关。尽管描述SDH缺陷型RCC的研究目前有限。本研究报告1例SDH缺陷型RCC,恶性程度高,骨转移少见。该患者通过B模式超声成像被诊断为右肾肿块,并通过肾脏对比增强计算机断层扫描在右肾静脉和下腔静脉显示癌栓。全身骨扫描显示放射性核素在左肱骨上端积聚,这表明可能的病理性骨破坏。因此,进行了手术切除。术后病理显示为高级别RCC,尽管具体分类尚不确定,怀疑遗传性平滑肌瘤病和RCC。随后,通过高通量测序鉴定了琥珀酸脱氢酶复合物黄素蛋白亚基A基因的种系突变(c.1A>G,p。Met1?)和免疫组织化学证明了琥珀酸脱氢酶复合物黄素蛋白亚基B表达的丧失。术后,患者接受了放疗和靶向治疗。经过6个月的随访治疗,胸腹CT和全身骨闪烁显像没有复发或转移的迹象。根据本报告,应鼓励早期发病患者进行种系筛查,因为家族史或病理结果可能无法为早期患者提供足够的信息,SDH缺陷型RCC的鉴别诊断。
    Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants of the SDH gene. SDH mutations are associated with an increased risk of developing RCC, although studies describing SDH-deficient RCC are currently limited. The present study reported a case of SDH-deficient RCC with high malignancy and rare bone metastasis. The patient was diagnosed with a right renal mass through B-mode ultrasound imaging and showed a carcinoma embolus in the right renal vein and inferior vena cava through kidney contrast-enhanced computed tomography. A whole-body bone scan showed radionuclide accumulation in the upper end of the left humerus, which indicated possible pathological bone destruction. As a result, surgical resection was performed. The postoperative pathology indicated a high-grade RCC and although the specific classification remained uncertain, hereditary leiomyomatosis and RCC was suspected. Subsequently, a germline mutation of the succinate dehydrogenase complex flavoprotein subunit A gene was identified through high-throughput sequencing (c.1A>G, p. Met1?) and immunohistochemistry demonstrated the loss of succinate dehydrogenase complex flavoprotein subunit B expression. Postoperatively, the patient underwent radiotherapy and targeted therapy. After 6 months of follow-up treatment, there was no indication of recurrence or metastasis on thoracoabdominal CT and whole-body bone scintigraphy. Based on the present report, germline screening should potentially be encouraged in early-onset patients as family history or pathological results may not provide sufficient information for the early, differential diagnosis of SDH-deficient RCC.
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  • 文章类型: Case Reports
    疣状黄色瘤(VX)是一种罕见的,慢性,以及影响皮肤和粘膜的良性病变。我们报告了一名女童外阴VX病例。
    一名12岁女性外阴病变超过10年,没有任何不适。体格检查显示,左侧大阴唇上有红色的分叶斑块,表面附着有一些鳞片。组织病理学检查提示过度和不完全角化,肥厚性棘层增生,表皮中性粒细胞浸润,在真皮乳头中可以看到类似泡沫的组织。淋巴细胞为主的炎性细胞浸润散布在血管周围。免疫组化成果显示CD68阳性。
    最终诊断证实了VX的存在。
    手术干预被证明成功地为患者取得了良好的结果。
    疣状黄瘤(VX)是一种罕见且非癌性的皮肤病,通常出现在口腔中,但可发生在生殖器上。在这种情况下,一个12岁的女孩有红色,她的左阴唇上有超过10年的疣状病变。VX的病因尚不清楚,但可能与炎症有关,创伤,或免疫疾病,而不是脂质代谢。通过活检证实了女孩的病情,一年后,她接受了手术切除,没有复发。生殖器区域的VX被称为Vegas黄色瘤。虽然VX看起来像其他皮肤问题,组织样本的详细检查对于准确诊断至关重要。治疗方案包括手术,激光治疗,或局部面霜。虽然VX通常是良性的,寻求医疗护理对于排除其他问题很重要。
    UNASSIGNED: Verruciform xanthoma (VX) is a rare, chronic, and benign lesion affecting the skin and mucous membranes. We reported a case of VX in the vulva of a female child.
    UNASSIGNED: A 12-year-old female had vulvar lesions for over 10 years without any discomfort. Physical examination revealed red lobulated patches on the left labia majora with a few scales attached to the surface. Histopathological examination indicated excessive and incomplete keratinization, hypertrophic spinous layer hyperplasia, neutrophil infiltration in the epidermis, and foam-like tissue could be seen in the dermal papilla. Lymphocyte-dominated inflammatory cell infiltration was scattered around the blood vessels. Immunohistochemical results showed positive CD68.
    UNASSIGNED: The final diagnosis confirmed the presence of VX.
    UNASSIGNED: Surgical intervention proved successful in achieving favorable outcomes for the patient.
    Verruciform xanthoma (VX) is a rare and non-cancerous skin condition that usually appears in the mouth but can occur on the genitals. In this case, a 12-year-old girl had red, warty lesions on her left labia majora for over 10 years. The cause of VX is not well understood but may be linked to inflammation, trauma, or immune disorders rather than lipid metabolism. The girl’s condition was confirmed through a biopsy, and she underwent surgical removal with no recurrence after a year. VX in the genital area is known as Vegas xanthomas. Though VX can look like other skin issues, a detailed examination of tissue samples is crucial for an accurate diagnosis. Treatment options include surgery, laser therapy, or topical creams. While VX is generally benign, seeking medical attention is important to rule out other concerns.
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  • 文章类型: Journal Article
    Plasma cell granuloma is extremely rare in the oral cavity. This paper reports a case of plasma cell granuloma in the oral cavity and reviews the literature. In this case, the plasma cell granuloma occurred in the gingiva, which was bright red and granular. The lesion was resected and diagnosed as gingival plasma cell granuloma by clinical pathological examination. Four months follow-up after operation surgery showed no signs of recurrence. Although gingival plasma cell granuloma is rare, it is easily confused with related diseases and should be identified and followed up closely.
    浆细胞肉芽肿在口腔内罕见,本文报道1例位于口腔内的浆细胞肉芽肿并进行文献复习。本例浆细胞肉芽肿发生于牙龈,呈多发性,牙龈鲜红呈颗粒状。病损行切除术,经临床病理检查确诊为牙龈浆细胞肉芽肿。术后4个月复查,无复发迹象。牙龈浆细胞肉芽肿虽然少见,但易与相关疾病混淆,应与相关疾病鉴别,并密切随访。.
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  • 文章类型: Journal Article
    唾液低级别导管内癌(LGIDC)是一种罕见的肿瘤,主要发生在腮腺。到目前为止,起源于副腮腺的LGIDC在国内外文献中鲜有报道。本研究报告1例副腮腺LGIDC,并简要总结其临床特点,诊断点,通过文献回顾和治疗,旨在为临床实践和进一步研究提供参考。
    Salivary low-grade intraductal carcinoma (LGIDC) is a rare tumor that mainly occurs in the parotid. Thus far, LGIDC originating from the accessory parotid gland has been rarely reported in domestic and foreign literature. This study reports a case of LGIDC of the accessory parotid gland and a brief summary of its clinical features, diagnostic points, and treatment by reviewing the literature, with the aim of providing a reference for clinical practice and further research.
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  • 文章类型: Case Reports
    维生素C缺乏,也被称为镰刀病,导致结缔组织异常和各种症状。我们描述了一个壳出血的病人,非常罕见的镰刀病。一名39岁的男子左臂和左腿虚弱。最初诊断为右侧肠管出血,他接受了脑出血的疏散。反复体格检查显示有出血倾向和多次未经治疗的龋齿时,怀疑患有此病,缺失的牙齿,和牙龈炎.该患者的吸烟史进一步支持了对风湿病的诊断,酒精使用障碍,不良饮食,和低血浆维生素C浓度。在接受包括维生素C在内的口服营养补充剂后,出血倾向迅速改善。该病例强调了在对有出血倾向的患者进行鉴别诊断时,包括镰刀的重要性。尤其是那些饮食不良或饮食史不详的人。经验性服用维生素C是一种合理的治疗方法。
    Vitamin C deficiency, also known as scurvy, causes abnormalities in connective tissues and varied symptoms. We describe a patient with putaminal hemorrhage, a very rare presentation of scurvy. A 39-year-old man presented with weakness in the left arm and left leg. Right putaminal hemorrhage was initially diagnosed, and he underwent evacuation of the intracerebral hemorrhage. Scurvy was suspected when repeated physical examinations revealed a bleeding tendency and multiple untreated dental caries, missing teeth, and gingivitis. A diagnosis of scurvy was further supported by the patient\'s history of smoking, alcohol use disorder, poor diet, and low plasma vitamin C concentration. After receiving oral nutritional supplementation including vitamin C, the bleeding tendency quickly improved. This case highlights the importance of including scurvy in a differential diagnosis for patients with bleeding tendencies, especially those with a poor diet or unknown dietary history. Empirical administration of vitamin C is a reasonable treatment.
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  • 文章类型: Case Reports
    背景:胚胎癌是生殖细胞肿瘤中一种罕见的组织类型。根据我们的文献综述,转移性胚胎癌因其与淋巴瘤的高度相似性而被误诊为淋巴瘤极为罕见,尚未有报道。
    方法:一名46岁中年男性出现不明原因发热,盗汗,腹胀3个月,在近6个月的时间里体重减轻了约7公斤,从临床特征和影像学检查来看,这与淋巴瘤极为相似。明确诊断后,该病例不仅获得了手术机会,而且免除了放射治疗。治疗效果良好。我们报告了一例罕见的转移性胚胎癌,这可以为胚胎性癌的诊断和治疗提供见解。
    结论:腹部淋巴结转移型胚胎癌可与淋巴瘤高度相似,诊断只能根据临床表现和影像学检查,也可结合病史。肿瘤标志物和生化检查。然而,最终诊断取决于病理活检。
    Embryonal carcinoma is a rare tissue type in germ cell tumors. According to our literature review, metastatic embryonal carcinoma misdiagnosed as lymphoma because of its high similarity to lymphoma is extremely rare and has not been reported yet.
    A 46-year-old middle adulthood male presented with unexplained fever, night sweats, abdominal distension for 3 months, and weight loss of around 7kg during almost 6 months, which is extremely similar to lymphoma from the clinical features and imaging examinations. After a clear diagnosis, the case not only obtained the opportunity of surgery but was also exempted from radiotherapy. The treatment effect was good. We report a case of rare metastatic embryonal carcinoma, which can provide insight into the diagnosis and treatment of embryonal carcinoma.
    Metastatic embryonal carcinoma of abdominal lymph nodes can be highly similar to lymphoma; the diagnosis can only be based on clinical manifestations and imaging examination but also combined with patient history, tumor markers and biochemical examination. However, the final diagnosis depends on pathological biopsy.
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