oral lesions

口腔病变
  • 文章类型: Journal Article
    COVID-19,一种呼吸道疾病,对全球数百万人产生影响,最近与影响各种身体系统的表现有关,包括口腔。研究强调口头问题,比如溃疡,水泡,和白色斑块,除了嗅觉和味觉功能障碍,影响个人的生活质量。在这种情况下,我们的研究旨在评估口腔病变的频率,嗅觉和味觉紊乱,和COVID-19引起的口干症。对414例患者进行了一项观察性研究,以评估COVID-19引起的口腔症状的频率。患者被诊断为轻度症状,并通过口腔临床检查和评估功能改变的问卷进行评估。结果显示,414例患者中有139例出现临床表现,口腔病变最普遍(19.1%),其次是味觉障碍(18.1%),口干症(14.2%),嗅觉功能障碍(14%)。最常见的口腔病变是溃疡(n=51),念珠菌病(n=8),和红斑或红色斑块(n=7)。不幸的是,50例(12.1%)患者在本研究中死亡。因此,口腔病变,嗅觉和味觉功能障碍,口干症是与COVID-19相关的常见症状。
    COVID-19, a respiratory illness with a global impact on millions, has recently been linked to manifestations affecting various bodily systems, including the oral cavity. Studies highlight oral issues, like ulcers, blisters, and white patches, alongside olfactory and gustatory dysfunction, influencing an individual\'s quality of life. In this context, our study aimed to assess the frequency of oral lesions, olfactory and gustatory disorders, and xerostomia resulting from COVID-19. An observational study was conducted with 414 patients to evaluate the frequency of oral symptoms resulting from COVID-19. Patients were diagnosed with mild symptoms and evaluated through clinical examination of the oral cavity and a questionnaire to assess functional alterations. The findings showed that 139 out of 414 patients presented clinical manifestations, with oral lesions being the most prevalent (19.1%), followed by gustatory disorders (18.1%), xerostomia (14.2%), and olfactory dysfunction (14%). The most prevalent oral lesions were ulcerations (n = 51), candidiasis (n = 8), and erythema or red plaques (n = 7). Unfortunately, 50 (12.1%) patients died during this study. Therefore, oral lesions, olfactory and gustatory dysfunctions, and xerostomia are common symptoms associated with COVID-19.
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  • 文章类型: Systematic Review
    背景:Birt-Hogg-Dube综合征(BHDS)是一种具有不同皮肤的常染色体显性综合征,肺,和肾脏表现。它通常在生命的第三个十年被诊断出来,患者气胸和肾癌的风险增加。
    方法:在PubMed中发表的文章,和Medline从1977年到2023年9月被纳入系统评价。纳入标准适用于病例报告,案例系列,和一项回顾性队列研究,描述临床,组织病理学,以及有口腔和/或腮腺病变的BHDS患者的遗传发现。
    结果:确定了16个患有BHDS的家庭/个体进行分析。患者的年龄从20岁到74岁不等,平均49.4年。男性受影响的时间为52.2%,女性,39.1%。87%的病例报告了皮肤纤维囊瘤,和口腔病变记录为47.8%。在43.5%的患者中记录了腮腺肿瘤,其中30.4%为嗜酸细胞瘤,4.3%双侧嗜酸细胞瘤,和4.3%的“嗜酸性细胞癌”。
    结论:因为BHDS并不常见,其临床表现谱可能被低估,特别是这种疾病大多在晚期报道。部分BHDS患者可能有嗜酸细胞性腮腺肿瘤和口腔病变。在这方面,出现这些病变和其他BHDS适应症的患者应考虑进行肾脏筛查.
    BACKGROUND: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant syndrome with different skin, lung, and renal manifestations. It is diagnosed commonly in the third decade of life, and patients have an increased risk for pneumothorax and renal carcinomas.
    METHODS: Articles published in PubMed, and Medline from 1977 to September 2023, were included in the systematic review. Inclusion criteria were applied to case reports, case series, and a retrospective cohort study, describing clinical, histopathological, and genetic findings in patients with BHDS with oral and/or parotid lesions.
    RESULTS: Sixteen families/individuals with BHDS were identified for analysis. Patients ranged in age from 20 to 74 years, with an average of 49.4 years. Males were affected 52.2% of the time and females, 39.1%. Skin fibrofolliculomas were reported in 87% of cases, and oral lesions were documented in 47.8%. Parotid tumors were documented in 43.5% of patients, 30.4% of which were oncocytomas, 4.3% bilateral oncocytomas, and 4.3% \"oncocytic carcinoma\".
    CONCLUSIONS: Because BHDS is uncommon, its spectrum of clinical manifestations may be underrecognized, especially as the disease is mostly reported at advanced stage. And some of the patients with BHDS may have oncocytic parotid tumors and oral lesions. In this regard, patients presenting these lesions and other indications of BHDS should be considered for renal screening.
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  • 文章类型: Journal Article
    小儿口腔病理学包括影响儿童口腔的多种疾病和病症。在这项研究中,我们对沙特阿拉伯一个学术中心的数据集进行了分析,以调查儿科患者各种口腔病变的患病率。
    为了进行这项研究,我们分析了2012年1月至2022年12月期间在我们机构的口腔病理实验室接受活检的儿科患者(年龄范围:0-18岁)的口腔病理报告。我们收集的数据包括人口统计信息和诊断结果。进行统计分析以确定不同变量的患病率和相关性。
    该研究共分析了183例患有口腔疾病的儿科病例。观察到的最常见的情况是粘液囊肿(12%),根尖周围肉芽肿(7.7%),牙质囊肿(6.6%),和根性囊肿(6.6%)。一些情况显示,患病率因年龄和性别而异。例如,黏液囊肿在6-12岁的女性患者中更为普遍.
    这项回顾性研究为儿童口腔疾病的患病率和人口统计学特征提供了有价值的见解。通过了解该人群的患病率,并认识到与其他研究中引用的分布差异,我们强调了考虑区域和人口影响的重要性。需要进一步的前瞻性研究来调查可能导致这些变化的因素。
    UNASSIGNED: Pediatric oral pathology encompasses a wide range of diseases and conditions affecting the oral cavity in children. In this study we conducted an analysis on a dataset from one academic center in Saudi Arabia to investigate the prevalence of various oral lesions in pediatric patients.
    UNASSIGNED: To conduct this study we analyzed oral pathology reports of pediatric patients (age range: 0-18 years) who underwent biopsies at our institution\'s oral pathology laboratory between January 2012 and December 2022. The data we collected included demographic information and diagnostic findings. Statistical analysis was performed to determine the prevalence rates of and associations between different variables.
    UNASSIGNED: The study analyzed a total of 183 pediatric cases with oral pathologies. The most common conditions observed were mucocele (12 %), periapical granuloma (7.7 %), dentigerous cyst (6.6 %), and radicular cyst (6.6 %). Some conditions showed variations in prevalence based on age and gender. For example, mucoceles were more prevalent among patients who were 6-12 years of age and female.
    UNASSIGNED: This retrospective study provides valuable insights into the prevalence and demographic characteristics of pediatric oral pathologies. By understanding the prevalence of conditions in this population and recognizing differences in distribution compared with those cited in other studies, we highlighted the importance of considering regional and demographic influences. Further prospective studies are needed to investigate factors that may contribute to these variations.
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  • 文章类型: Journal Article
    大疱性类天疱疮(BP)和单纯疱疹病毒(HSV)感染在口腔粘膜中的表现相似,HSV的实验室检测有一定的局限性,这使得在BP的口腔病变中难以识别HSV感染。此外,BP和HSV感染的治疗存在矛盾。因此,及时发现BP患者的HSV感染非常重要。
    确定单纯疱疹病毒感染在BP口腔病变中的患病率和临床标志物。
    这项前瞻性横断面描述性分析研究是对42例有口腔病变的BP患者进行的。32例无口腔病变的BP患者和41例健康者作为对照组。采用聚合酶链反应检测HSV。比较HSV感染患者与未感染患者的临床和实验室特征。
    共有19例(45.2%)有口腔病变的BP患者,无(0.0%)血压无口腔病变患者,4例(9.8%)健康个体在口腔粘膜上的HSV阳性。在有口腔病变的BP患者中,口腔和皮肤病变之间的不一致活性(p=0.001),口腔病变中没有水泡/血泡(p=0.020),与HSV阴性BP患者相比,HSV阳性BP患者的口腔病变疼痛(p=0.014)更常见;HSV阳性BP患者的糖皮质激素剂量(p=0.023)和最近2周的累积糖皮质激素剂量(2周AGC剂量)(p=0.018)更高。结合以上五个变量作为测试变量,在ROC分析中,AUC为0.898(p<0.001),HSV感染为状态变量。在多变量分析中,发现口腔病变中没有水泡/血泡(p=0.030)和口腔病变疼痛(p=0.038)是HSV感染的独立预测因子。共有14例(73.7%)HSV阳性BP患者接受2周泛昔洛韦治疗,口腔粘膜BPDAI评分显著下降(p<0.001)。
    HSV感染常见于BP口腔病变。口腔和皮肤病变之间的不一致活动,口腔病变中没有水疱,口腔病变疼痛,目前使用的糖皮质激素剂量较高,在BP患者中,较高的2周AGC剂量应提醒医生注意口腔病变中的HSV感染,并及时给予2周泛昔洛韦治疗.
    UNASSIGNED: The manifestations of bullous pemphigoid (BP) and herpes simplex virus (HSV) infection are similar in oral mucosa, and the laboratory detection of HSV has some limitations, making it difficult to identify the HSV infection in oral lesions of BP. In addition, the treatments for BP and HSV infection have contradictory aspects. Thus, it is important to identify the HSV infection in BP patients in time.
    UNASSIGNED: To identify the prevalence and clinical markers of HSV infection in oral lesions of BP.
    UNASSIGNED: This prospective cross-sectional descriptive analytical study was conducted on 42 BP patients with oral lesions. A total of 32 BP patients without oral lesions and 41 healthy individuals were enrolled as control groups. Polymerase chain reaction was used to detect HSV. Clinical and laboratory characteristics of patients with HSV infection were compared with those without infection.
    UNASSIGNED: A total of 19 (45.2%) BP patients with oral lesions, none (0.0%) BP patients without oral lesions, and four (9.8%) healthy individuals were positive for HSV on oral mucosa. Among BP patients with oral lesions, the inconsistent activity between oral and skin lesions (p=0.001), absence of blister/blood blister in oral lesions (p=0.020), and pain for oral lesions (p=0.014) were more often seen in HSV-positive than HSV-negative BP patients; the dosage of glucocorticoid (p=0.023) and the accumulated glucocorticoid dosage in the last 2 weeks (2-week AGC dosage) (p=0.018) were higher in HSV-positive BP patients. Combining the above five variables as test variable, the AUC was 0.898 (p<0.001) with HSV infection as state variable in ROC analysis. The absence of blister/blood blister in oral lesions (p=0.030) and pain for oral lesions (p=0.038) were found to be independent predictors of HSV infection in multivariable analysis. A total of 14 (73.7%) HSV-positive BP patients were treated with 2-week famciclovir and the oral mucosa BPDAI scores significantly decreased (p<0.001).
    UNASSIGNED: HSV infection is common in BP oral lesions. The inconsistent activity between oral and skin lesions, absence of blister in oral lesions, pain for oral lesions, higher currently used glucocorticoid dosage, and higher 2-week AGC dosage in BP patients should alert physicians to HSV infection in oral lesions and treat them with 2-week famciclovir in time.
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  • 文章类型: Journal Article
    进行口腔检查时,系统性疾病可能会出现早期症状。自从COVID-19大流行爆发以来,已经发表了几项研究,详细说明了该病毒对口腔的直接影响。本研究旨在确定感染严重急性呼吸道综合症冠状病毒2的个体与对照组之间的口咽表现是否确实存在任何显着差异,以及病毒是否有能力侵入口腔角质形成细胞和成纤维细胞,导致口腔溃疡和浅表病变的发展。本研究概述了疾病早期出现的症状,以及口腔最常受影响的区域,包括舌头,嘴唇,检查腭和口咽。在目前的回顾性研究中,4月之间招募了52名感染COVID-19的患者,2021年10月,2022年。此外,招募52名病毒检测呈阴性的个体作为对照组。该研究是通过全面检查并向所有参与者提供问卷进行的。结果显示,在接受检查的COVID-19组患者队列中(n=52),一个比例(平均,16.15)显示口腔表现。具体来说,COVID-19组中75%的患者描述口腔疼痛,这些患者中有69%的牙齿颜色或龋齿发生变化。总之,相对于对照组,与COVID-19组相比,口咽症状的患病率普遍较低,除了口腔疼痛(30.8%),扁桃体炎(17.3%),出血(34.6%),牙齿颜色变化(36.5%),复发(15.4%)和脓肿(7.7%)。因此,总的来说,无COVID-19的患者口腔表现较少.
    Systemic disorders may exhibit early signs when conducting an oral examination. Since the onset of the COVID-19 pandemic, several studies have been published detailing the direct impact of the virus on the oral cavity. The present study aimed to determine whether indeed there are any significant disparities in oropharyngeal manifestations between individuals infected with severe acute respiratory syndrome coronavirus 2 and a control group, and whether the virus has the ability to invade and reproduce inside oral keratinocytes and fibroblasts, resulting in the development of oral ulcerations and superficial lesions. The present study provides an overview of the symptoms that occur at an early stage of the illness, and the most commonly affected regions of the oral cavity, including the tongue, lips, palate and oropharynx are examined. In the present retrospective study, 52 patients infected with COVID-19 were recruited between April, 2021 and October, 2022. In addition, 52 individuals who tested negative for the virus were recruited as the control group. The study was conducted through a thorough examination and questionnaire provided to all participants. The results revealed that among the cohort of patients from the COVID-19 group examined (n=52), a proportion (mean, 16.15) displayed oral manifestations. Specifically, 75% of the patients in the COVID-19 group described oral cavity pain, and 69% of these patients had changes in teeth color or dental caries. In summary, in relation to the control group, the prevalence of oropharyngeal symptoms was generally lower compared to the COVID-19 group, apart from oral cavity pain (30.8%), tonsillitis (17.3%), bleeding (34.6%), teeth color changes (36.5%), recurrence (15.4%) and abscesses (7.7%). Thus, on the whole, the patients without COVID-19 had fewer oral manifestations.
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  • 文章类型: Journal Article
    烟草主要作为吸烟或无烟烟草消费[SLT]。“无烟烟草”(SLT)术语用于以咀嚼形式消费与其他成分混合的烟草,随地吐痰和蘸水。无烟烟草的消费者咀嚼产品并吐出在口腔中积聚的汁液,这导致口腔的各种恶性和恶性前病变。
    描述性观察研究是通过耳鼻喉科在焦特布尔市进行的,头颈部手术,SN医学院博士,焦特布尔.
    无烟烟草的男女比例几乎相同。年龄的增加与口腔病变的发生有关,在年龄>64岁的组中,有43%的患者发生了口腔病变。持续时间是另一个相关因素,66%的人在使用<10年内出现症状。口腔粘膜下纤维化是最常见的病变。0.3%为恶性病变。大约78%的病例发展了依赖性。糖尿病患者更容易出现口腔病变。
    无烟烟草在口腔中的病变发展取决于各种因素,例如每天的烟草使用量,放烟草的地方和持续时间。了解其致命影响并及时诊断和管理可以挽救许多生命。
    UNASSIGNED: Tobacco is consumed mainly as smoking or smokeless tobacco [SLT]. \"Smokeless tobacco\" (SLT) term is used for the consumption of tobacco mixed with other constituents in form of chewing, spitting and dipping. Consumers of smokeless tobacco chew the products and spit out the juice that builds up in oral cavity which leads to various malignant and pre malignant lesions of oral cavity.
    UNASSIGNED: Descriptive observational study was conducted in the city of Jodhpur through department of ENT, Head & Neck Surgery, Dr. SN medical college, Jodhpur.
    UNASSIGNED: Male to female ratio of smokeless tobacco usage was almost same. Increasing age was associated with occurrence of oral lesions and 43% patients developed oral lesions in the group > 64 yrs of age. Duration was another associating factor and 66% developed symptoms within < 10 years of usage. Oral submucous fibrosis is the most common lesion. Malignant lesions were seen in 0.3% cases. Around 78% cases developed dependency. Diabetic patients were seen more prone to development of oral lesions.
    UNASSIGNED: Development of lesions in the oral cavity by smokeless tobacco depends on various factors such as quantity of tobacco usage per day, place of putting tobacco and duration. Awareness regarding its fatal effects and timely diagnosis and management can save many lives.
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  • 文章类型: Journal Article
    银屑病是一种广泛存在的慢性炎症性皮肤病,对身心健康和生活质量产生负面影响,如普遍较低的皮肤病生活质量指数(DLQI)所示。银屑病是由相关的合并症负担,一些患者表现为并发口腔病变。虽然口腔牛皮癣的存在仍然存在争议。银屑病特异性和非特异性口腔病变与口腔健康相关生活质量(OHRQoL),使用口腔健康影响概况-14(OHIP-14)问卷进行自我评估,回顾性回顾了成人未经治疗的银屑病患者的≥15颗牙齿,不吸烟者,没有牙齿或牙周感染。样本(年龄,性别,合并症)和描述性变量(体表面积-BSA,银屑病面积和严重程度指数-PASI,皮肤病生活质量指数-DLQI,牛皮癣的严重程度,病变分布和主要受累,自诊断以来的几年)与DLQI和OHIP-14相关,并通过基线DLQI和OHRQoL类别进行比较。包括90名参与者的图表。没有发现口腔病变,94%的参与者发现OHRQoL优异/良好。DLQI评分与PASI和BSA呈显著正相关,而OHIP-14伴高血压和IMID,和年龄。在DLQI>10的参与者中,PASI和BSA显著高于OHQRoL等级,以及粘膜受累和合并症。具体来说,在揭示优秀OHQRoL的受试者中,92.6%为非IMID,75%非高血压,89.7%非糖尿病患者,86.8%的非CVD受试者。
    Psoriasis is a widespread chronic inflammatory skin disease, that negatively affects physical and emotional well-being and quality of life, as shown by the generally low Dermatology Life Quality Index (DLQI). Psoriasis is burdened by associated comorbidities and some patients manifest concurrent oral lesions, although the existence of oral psoriasis remains controversial. Psoriasis-specific and nonspecific oral lesions and Oral Health-Related Quality of Life (OHRQoL), self-assessed using the Oral Health Impact Profile-14 (OHIP-14) questionnaire, were retrospectively reviewed in adult untreated psoriasis patients with ≥15 teeth, who were non-smokers and had no dental or periodontal infections. Sample (age, gender, comorbidities) and descriptive variables (Body Surface Area-BSA, Psoriasis Area and Severity Index-PASI, Dermatology Life Quality Index-DLQI, severity of psoriasis, distribution of lesions and predominant involvement, years since diagnosis) were correlated with DLQI and OHIP-14 and compared by baseline DLQI and OHRQoL classes. Charts from 90 participants were included. No oral lesions were detected, and excellent/good OHRQoL was found in 94% of the participants. DLQI scores displayed positive significant associations with PASI and BSA, while OHIP-14 with hypertension and IMID, and age. PASI and BSA were significantly higher in participants with DLQI > 10 and also differed significantly among OHQRoL ranks, as well as mucosal involvement and comorbidities. Specifically, among subjects revealing an Excellent OHQRoL, 92.6% were non-IMID, 75% non-hypertensive, 89.7% non-diabetic subjects, 86.8% of non CVD-subjects.
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  • 文章类型: Journal Article
    本研究旨在评估不同的基于透明质酸的局部凝胶对人牙龈成纤维细胞和口腔细菌的细胞毒性作用。
    四种不同的透明质酸盐凝胶-Bexident®Aftas(BA),GUM®AftaClear(AfC),Gengigel®(G),选择Aloclair®Plus(AlC)和氯己定凝胶-Bexident®树胶(BG)。将人牙龈成纤维细胞(HGF)接种在具有不同凝胶/培养基浓度(v/v%)的48孔板中,并在培养1天和3天评估细胞活力。评估细胞形态,和根据ISO10993-5:2009(E)分级的改变。口腔链球菌CECT907T菌落为,在48孔板上播种或铺在血琼脂板上,并暴露于不同的凝胶浓度。评估光密度(OD),并测量抑制区的直径(mm)。
    BA和G引起HGF细胞毒性降低,其次是AfC。对于所有暴露时间,AlC和BG在高达3%的浓度下具有细胞毒性。HGF的PCM图像显示AlC和BG的中度至重度改变,轻度至轻度改变,对于BA,AfC和G。在AlC和AfC上观察到对S.oralis的最高抗菌活性,BA和G未观察到抗菌活性。仅在AlC和BG中观察到固着菌落的抑制作用。
    AlC表现出对S.oralis的优异抗菌活性,但在HGF中具有更高的细胞毒性潜力。BA和G表现出最低的细胞毒性,几乎没有抗菌作用。AfC对HGF具有抑菌作用和低细胞毒性。
    UNASSIGNED: This study aimed to evaluate the cytotoxic effects of different topical hyaluronic acid-based gels on human gingival fibroblasts and oral bacteria.
    UNASSIGNED: Four different hyaluronate gels - Bexident® Aftas (BA), GUM® AftaClear (AfC), Gengigel®(G), Aloclair® Plus (AlC) and a chlorhexidine gel - Bexident®Gums(BG) were selected. Human gingival fibroblasts (HGF) were seeded in 48-well plates with different gel/culture medium concentrations (v/v%) and cell viability was evaluated at 1 and 3 days of culture. Cell morphology was assessed, and alterations graded according to ISO 10993-5:2009(E). Streptococcus oralis CECT 907T colony was, seed on 48-well plate or spread onto the blood agar plates and exposed to the different gel\'s concentration. The optical density (OD) was assessed, and the diameter of the inhibition zone was measured (mm).
    UNASSIGNED: BA and G elicited reduced HGF cytotoxicity, followed by AfC. AlC and BG were cytotoxic at concentrations up to 3% for all exposure times. PCM images of HGF showed moderate-to-severe alterations for AlC and BG and slight to mild changes, for BA, AfC and G. The highest antibacterial activity against S.oralis was observed on AlC and AfC, and no antibacterial activity was observed for BA and G. Inhibitory effect in sessile colonies was only observed in AlC and BG.
    UNASSIGNED: AlC demonstrated superior antibacterial activities against S.oralis but a higher cytotoxic potential in HGF. BA and G presented the lowest cytotoxicity with little to no antibacterial effect. AfC demonstrated bacteriostatic effects and low cytotoxicity on HGF.
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  • 文章类型: Journal Article
    慢性口腔粘膜疾病(COMDs)对临床医生和患者来说是一个重大挑战。它们通常与慢性疼痛和对愈合和患者生活质量的负面影响有关。再生医学,包括使用生物自体血液衍生物质(例如,血小板浓缩物[PC]),据报道,可以改善骨科和颌面手术以及慢性口腔粘膜疾病的愈合并减轻疼痛。在这次审查中,我们的目标是描述不同类型的PC及其在COMD管理中的应用,如扁平苔藓,粘膜炎,寻常型天疱疮,粘膜类天疱疮,浆细胞粘膜炎,就治愈潜力而言,疼痛控制,和生活质量。总的来说,PC应用程序似乎可以增强COMDs患者的愈合并减轻疼痛。然而,由于样本量小,缺乏标准化的临床试验,需要进一步的研究来支持这些发现。
    Chronic oral mucosal diseases (COMDs) represent a significant challenge for clinicians and patients. They are commonly associated with chronic pain and negative effects on healing and patient\'s quality of life. Regenerative medicine including the use of biological autologous blood-derived substances (e.g., platelet concentrates [PCs]), has been reported to improve healing and reduce pain in orthopedic and maxillofacial surgeries as well as chronic oral mucosal diseases. In this review, we aim to describe the different types of PCs and their applications in the management of COMDs such as lichen planus, mucositis, pemphigus vulgaris, mucous membrane pemphigoid, and plasma cell mucositis, in terms of healing potential, pain control, and quality of life. Overall, PC applications seem to enhance healing and reduce pain in patients with COMDs. However, due to the small sample size and the lack of standardized clinical trials, further research is required to support these findings.
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  • 文章类型: Case Reports
    Cowden综合征(CS)是一种与PTEN基因突变相关的罕见遗传性疾病。它的特点是大头畸形,特定的粘膜皮肤特征,和良性和恶性肿瘤的易感性。主要表现为口腔临床表现的CS病例相对少见。
    我们报告了一例41岁的男性先证者,表现为双侧连合和舌外突出对称病变超过两年。先证者还表现出其他特征,包括大头畸形,沟通困难,和肥胖。在家庭成员中观察到类似的口腔临床表现。全外显子组测序分析显示,先证者和他的弟弟的PTEN基因突变与CS相关。此病例提醒人们注意CS在口腔临床实践中的不同表现,并强调了基因检测对指导诊断和治疗的重要性。
    很少报道以口腔病变为主的CS病例。这一发现有助于进一步了解CS发病机理的某些方面,并增强了对主要表现为口腔临床表现的CS病例的认识。
    UNASSIGNED: Cowden syndrome (CS) is a rare genetic disorder associated with PTEN gene mutations. It is characterized by macrocephaly, specific mucocutaneous features, and a predisposition to benign and malignant tumors. Cases of CS primarily presenting with oral clinical manifestations are relatively uncommon.
    UNASSIGNED: We report the case of a 41-year-old male proband who presented with bilateral commissural and lingual externally projecting symmetric lesions for over two years. The proband also exhibited other features, including macrocephaly, communication difficulties, and obesity. Similar oral clinical manifestations were observed in family members. Whole exome sequencing analysis revealed PTEN gene mutations associated with CS in both the proband and his younger brother. This case serves as a reminder to be aware of the diverse presentations of CS in oral clinical practice and highlights the importance of genetic testing for guiding diagnosis and treatment.
    UNASSIGNED: There are few reported cases of CS primarily presenting with oral lesions. This finding contributes to further understanding of certain aspects of the pathogenesis of CS and enhances awareness of CS cases primarily exhibiting oral clinical manifestations.
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