pigmented

色素沉着
  • 文章类型: Case Reports
    色素沉着的真菌状乳头是一种罕见的良性疾病。它通常被认为是诊断困境,因为它可能是严重疾病的临床征兆。我们的患者是一名中年沙特女性,她的舌头的外侧和前部表现为色素沉着过度,并且与其他皮肤或粘膜皮肤表现无关。她的病史是缺铁性贫血,肝血管瘤,颈腰椎间盘突出症,和胃食管反流病.经检查,她在舌头的侧面有一个纵向的色素沉着过度的棕褐色斑点,并且在前舌的乳头上均匀分布了精确的变色。通过粘镜检查发现沿上述分布呈鹅卵石状。病人拒绝做活检,但她对自己的病情感到放心,并指示她去诊所,如果她有任何进一步的问题。
    Pigmented fungiform papillae are a rare benign condition. It is commonly considered a diagnosis dilemma as it could be a clinical sign of a serious condition. Our patient was a middle-aged Saudi female presenting with hyperpigmentation along the lateral and anterior aspects of her tongue and was not associated with other cutaneous or mucocutaneous manifestation. Her medical history was significant for iron deficiency anemia, hepatic hemangioma, cervical and lumbar intervertebral disc herniation, and gastroesophageal reflux disease. Upon inspection, she had a longitudinal hyperpigmented tan-brown patch on the lateral aspects of her tongue and pinpoint discoloration evenly distributed on the papillae of the anterior tongue. The examination by mucoscopy revealed a cobblestone appearance along the mentioned distribution. The patient refused to have the biopsy done, but she was reassured about her condition and instructed to visit the clinic if she has any further issues.
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  • 文章类型: Case Reports
    原发性颅内脑膜黑素瘤罕见。诊断原发性脑膜黑素瘤主要涉及通过临床和放射学手段进行综合评估。该评估应包括详细的皮肤和眼科检查。任何可疑病变必须进行活检和显微镜检查。这不仅对于区分原发性颅内黑色素瘤与其他脑肿瘤至关重要,而且对于排除原发性皮肤或非皮肤黑色素瘤的潜在来源的转移至关重要。手术被认为是治疗的主要手段。尽管黑色素瘤通常被认为是放射性和化学耐药性肿瘤,辅助放疗和化疗在它们的管理中仍然起着至关重要的作用。原发性脑膜黑色素瘤的治疗前景在不断发展,正在进行的研究旨在改善这种具有挑战性的疾病患者的预后。
    Primary intracranial meningeal melanomas are rare. Diagnosing primary meningeal melanomas mostly involves comprehensive assessment through clinical and radiological means. This evaluation should encompass a detailed dermal and ophthalmic examination. Any suspicious lesion must be biopsied and examined microscopically. This is crucial not only to differentiate primary intracranial melanoma from other brain tumors but also to rule out metastases from potential sources of primary cutaneous or non-cutaneous melanomas. Surgery is considered the mainstay of treatment. Despite melanomas being generally considered radio- and chemo-resistant tumors, adjuvant radiotherapy and chemotherapy still play a crucial role in their management. The treatment landscape for primary meningeal melanoma is continually evolving, with ongoing research aiming to improve outcomes for patients with this challenging disease.
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  • 文章类型: Journal Article
    背景:舌色素沉着型乳头(PFPT)是一种罕见的良性舌色素疾病。在深色皮肤的个体中,PFPT似乎比较常见。然而,韩国患者PFPT的数据有限。
    目的:我们旨在研究韩国患者PFPT的临床特征。
    方法:纳入1995年至2021年在釜山国立大学医院诊断为PFPT的患者。PFPT的临床特点,皮肤镜发现,并对合并症进行了审查。
    结果:共纳入19例诊断为PFPT的患者。男女比例约为1:5。诊断时的平均年龄为41.1岁(范围,8~67年)。根据Holzwanger的分类,I型是最常见的(89.5%)。PFPT通常伴有色素性疾病,包括粘膜黑色素斑,Laugier-Hunziker综合征,黄褐斑,和黑甲(6/19,31.6%)。在4例患者中发现了口腔感染或炎性病变(21.1%),2例(10.5%)患者存在全身性疾病和感染性疾病。对7例患者进行了皮肤镜检查;带有二分血管的色素性边界(玫瑰花瓣型,71.4%)和弥漫性色素沉着(鹅卵石图案,71.4%)是常见发现。
    结论:我们的研究表明PFPT可以与色素性疾病共存。伴随的色素性疾病显示与性激素有关,或对异常色素沉着的易感性可能是PFPT的可能原因。
    BACKGROUND: Pigmented fungiform papillae of the tongue (PFPT) is a rare benign pigmentary disorder of the tongue. In dark-skinned individuals, PFPT appears to be relatively common. However, limited data exist on PFPT in Korean patients.
    OBJECTIVE: We aimed to investigate the clinical characteristics of PFPT in Korean patients.
    METHODS: Patients diagnosed with PFPT between 1995 and 2021 at the Pusan National University Hospital were included. Clinical characteristics of PFPT, dermoscopic findings, and comorbidities were reviewed.
    RESULTS: A total of 19 patients diagnosed with PFPT were enrolled. The male to female ratio was approximately 1:5. The mean age at diagnosis was 41.1 years (range, 8~67 years). According to Holzwanger\'s classification, Type I was the most common (89.5%). PFPT was commonly concomitant with pigmentary disorders, including mucosal melanotic macules, Laugier-Hunziker syndrome, melasma, and melanonychia (6/19, 31.6%). Preceding oral infection or inflammatory lesions were found in four patients (21.1%), and systemic diseases and infectious diseases existed in two patients (10.5%). Dermoscopic examination was performed in seven patients; pigmented border with dichotomized vessels (rose petal pattern, 71.4%) and diffuse pigmentation (cobblestone pattern, 71.4%) were common findings.
    CONCLUSIONS: Our study shows PFPT can coexist with pigmentary disorders. Concomitant pigmentary disorder shows an association with sex hormone or susceptibility to abnormal pigmentation may be a possible cause of PFPT.
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  • 文章类型: Journal Article
    很少有人描述室管膜瘤含有黑色素以外的色素,神经黑色素,脂褐素或组合。在这个案例报告中,我们介绍了一名成人患者第四脑室的色素性室管膜瘤,并从文献中回顾了另外16例色素性室管膜瘤。一名46岁的女性出现听力损失,头痛,和恶心。磁共振成像显示第四脑室有一个2.5厘米的对比增强囊性肿块,被切除了。术中,肿瘤呈灰棕色,囊性的,坚持脑干。常规组织学显示肿瘤有真正的玫瑰花结,与室管膜瘤一致的血管周假结膜和室管膜,但也显示出慢性炎症和丰富的扩张色素肿瘤细胞,模仿巨噬细胞在冷冻和永久切片。色素细胞GFAP阳性,CD163阴性,与神经胶质肿瘤细胞一致。色素对Fontana-Masson呈阴性,对周期性酸性希夫和自发荧光呈阳性,这与脂褐素的特征一致。增殖指数低,H3K27me3显示部分损失。H3K27me3是DNA包装蛋白组蛋白H3的表观遗传修饰,表明组蛋白H3蛋白上赖氨酸27的三甲基化。此甲基化分类与后颅窝B组室管膜瘤(EPN_PFB)兼容。患者在术后3个月随访时临床良好,无复发。我们对所有17例病例的分析,包括提交的那个,表明,色素性室管膜瘤在中年人中最常见,中位年龄为42岁,并且大多数具有良好的结局。然而,1例同时出现继发性软脑膜黑色素积累的患者死亡.大多数(58.8%)出现在第四脑室,而脊髓(17.6%)和幕上位置(17.6%)较少见。出现的年龄和总体上良好的预后提出了一个问题,即大多数其他后颅窝色素性室管膜瘤是否也可能属于EPN_PFB组,但是需要额外的研究来解决这个问题。
    Ependymomas have rarely been described to contain pigment other than melanin, neuromelanin, lipofuscin or a combination. In this case report, we present a pigmented ependymoma in the fourth ventricle of an adult patient and review 16 additional cases of pigmented ependymoma from the literature. A 46-year-old female showed up with hearing loss, headaches, and nausea. Magnetic resonance imaging revealed a 2.5 cm contrast-enhancing cystic mass in the fourth ventricle, which was resected. Intraoperatively, the tumor appeared grey-brown, cystic, and was adherent to the brainstem. Routine histology revealed a tumor with true rosettes, perivascular pseudorosettes and ependymal canals consistent with ependymoma, but also showed chronic inflammation and abundant distended pigmented tumor cells that mimicked macrophages in frozen and permanent sections. The pigmented cells were positive for GFAP and negative for CD163 consonant with glial tumor cells. The pigment was negative for Fontana-Masson, positive for Periodic-acid Schiff and autofluorescent, which coincide with characteristics of lipofuscin. Proliferation indices were low and H3K27me3 showed partial loss. H3K27me 3 is an epigenetic modification to the DNA packaging protein Histone H3 that indicates the tri-methylation of lysine 27 on histone H3 protein. This methylation classification was compatible with a posterior fossa group B ependymoma (EPN_PFB). The patient was clinically well without recurrence at three-month post-operative follow-up appointment. Our analysis of all 17 cases, including the one presented, shows that pigmented ependymomas are most common in the middle-aged with a median age of 42 years and most have a favorable outcome. However, one patient that also developed secondary leptomeningeal melanin accumulations died. Most (58.8%) arise in the 4th ventricle, while spinal cord (17.6%) and supratentorial locations (17.6%) were less common. The age of presentation and generally good prognosis raise the question of whether most other posterior fossa pigmented ependymomas may also fall into the EPN_PFB group, but additional study is required to address that question.
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  • 文章类型: Journal Article
    背景:许多先天性黑素细胞痣(CMN)在癌基因BRAFV600E中携带体细胞突变。但是,尚未系统地记录具有BRAFV600E基因突变的CMN的详细组织病理学特征和增殖活性。
    目的:鉴定CMN中与BRAFV600E基因突变状态相关的增殖活性和组织病理学特征。
    方法:CMN从实验室报告系统进行回顾性鉴定。通过Sanger测序确定突变。根据是否有BRAF基因突变将CMN分为突变组和对照组,并按性别严格匹配,年龄,痣大小,和位置。组织病理学分析,通过免疫组织化学和激光共聚焦荧光显微镜分析Ki67的表达。
    结果:Ki67指数的差异,突变组与对照组的痣细胞受累深度和痣细胞巢的数量具有统计学意义,p值分别为0.041、0.002和0.007。与BRAFV600E阴性痣相比,BRAFV600E阳性痣通常主要表现为巢状表皮内黑素细胞,和较大的交界巢,但这些数据集的差异无统计学意义.巢数(p=0.001)与Ki67阳性细胞比例呈正相关。
    结论:纳入了小样本患者,没有随访。
    结论:BRAFV600E基因突变与先天性黑素细胞痣的高增殖活性和独特的组织病理学特征相关。
    BACKGROUND: A lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative activity of CMN with BRAF V600E gene mutation have not been systematically documented.
    OBJECTIVE: To identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN.
    METHODS: CMN were retrospectively identified from the laboratory reporting system. Mutations were determined by Sanger sequencing. The CMN were divided into a mutant group and control group according to whether there was BRAF gene mutation and were strictly matched according to gender, age, nevus size, and location. Histopathological analysis, analysis of Ki67 expression by immunohistochemistry and laser confocal fluorescence microscopy were performed.
    RESULTS: The differences in Ki67 index, the depth of nevus cell involvement and the number of nevus cell nests between the mutant group and the control group was statistically significant, with p-values of 0.041, 0.002 and 0.007, respectively. Compared with BRAF V600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this data sets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells.
    CONCLUSIONS: A small sample of patients were included and there was no follow-up.
    CONCLUSIONS: BRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.
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  • 文章类型: Case Reports
    婴儿期黑色素神经外胚层肿瘤(MNTI)是一种临床上有特色的肿瘤,神经嵴起源的良性肿瘤。肿瘤通常在前上颌骨发展,很少在颅骨和下颌骨发展。这是关于在下颌骨中发生的罕见MNTI病例的跨学科治疗的报告。患者最初在2个月大时接受检查,下颌骨肿瘤迅速生长,一周内肿瘤大小增加了一倍。MRI上显示的左下颌骨明确病变和高尿香草扁桃酸(VMA)水平确定了诊断。完整的跨学科治疗包括四种干预措施。手术包括摘除和刮宫,作为第一次干预,在2个月大的时候。第二次干预从7岁持续到15岁,包括第一阶段的正畸治疗以监测正常生长,其次是拦截性正畸治疗和临时假牙的修复干预。在生长竞争后完成了第三次干预,其中包括假体前手术,增加了无牙萎缩性下颌骨的高度并放置了4个植入物。在第四次干预中,应用了由植入物支持的永久性口腔修复。
    Melanotic neuroectodermal tumor of infancy (MNTI) is a clinically distinctive, benign neoplasm of neural crest origin. The tumor develops usually in the anterior maxilla and rarely in the skull and mandible. This is a report of the interdisciplinary treatment of a rare case of MNTI occurring in the mandible. The patient was initially addressed for examination at the age of 2 months with a rapidly growing tumor of the mandible that had increased double in size in a week. A well-defined lesion in the left mandible shown on MRI and high urine vanillylmandelic acid (VMA) level determined the diagnosis. The complete interdisciplinary treatment included four interventions. Surgery with enucleation and curettage, performed as first intervention, at the age of 2 months. The second intervention lasted from age 7 to age 15 and included a first phase of Orthodontic treatment to monitor normal growth, followed by interceptive Orthodontic treatment and Prosthodontic intervention with interim dentures. The third intervention accomplished after competition of growth and included the pre-prosthetic surgery with an augmentation of the height of the edentulous atrophic mandible and placement of 4 implants. In the fourth intervention the permanent prosthodontic restoration supported by implants was applied.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    Sweet oranges are an important source of ascorbic acid (AsA). In this study, the content of AsA in the juice and leaves of four orange clonal selections, different in terms of maturity time and the presence/absence of anthocyanins, was correlated with the transcription levels of the main genes involved in the biosynthesis, recycling, and degradation pathways. Within each variety, differences in the above pathways and the AsA amount were found between the analysed tissues. Variations were also observed at different stages of fruit development and maturation. At the beginning of fruit development, AsA accumulation was attributable to the synergic action of l-galactose and Myo-inositol, while the l-gulose pathway was predominant between the end of fruit development and the beginning of ripening. In leaves, the l-galactose pathway appeared to play a major role in AsA accumulation, even though higher GalUr isoform expression suggests a synergistic contribution of both pathways in this tissue. In juice, the trend of the AsA content may be related to the decrease in the transcription levels of the GME, GDH, MyoOx, and GalUr12 genes. Newhall was the genotype that accumulated the most AsA. The difference between Newhall and the other varieties seems to be attributable to the GLDH, GalUr12, APX2, and DHAR3 genes.
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