Nevus, Pigmented

痣,着色
  • 文章类型: Journal Article
    一个童年中期的女孩带着右鼻翼小叶的先天性黑素细胞痣(CMN)出现在门诊部(OPD)。她的父母有美学问题,并表示希望切除病变。CMN的全层切除是使用鼻唇沟和背侧鼻前移皮瓣重建缺损,并带有耳廓软骨,以塑造ala的轮廓。
    A girl in her middle childhood presented to the outpatient department (OPD) with a congenital melanocytic naevi (CMN) of the right nasal alar lobule. Her parents had aesthetic concerns and expressed their desire to get the lesion removed. The full-thickness excision of CMN was performed with the reconstruction of the defect using the nasolabial and dorsal nasal advancement flap with conchal cartilage to shape the contour of the ala.
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  • 文章类型: Journal Article
    痣是一种罕见的先天性错构瘤,其临床和组织病理学特征随青春期而变化。它与许多继发性肿瘤有关,其中大部分被认为来自卵泡生殖细胞。在这篇文章中,作者描述了总共3例黑素细胞痣和色斑痣的合并病例,以强调这一罕见的发现。
    UNASSIGNED: Nevus sebaceus is a rare congenital hamartoma with clinical and histopathological features that change with puberty. It has been associated with a number of secondary neoplasms, most of which are thought to derive from follicular germ cells. In this article, the authors describe a total of 3 cases of combined melanocytic nevus and nevus sebaceus to highlight this rare finding.
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  • 文章类型: Systematic Review
    先天性黑素细胞痣(CMN)是丝裂原活化蛋白激酶信号转导通路异常的结果。黑色素瘤的风险是CMN患者预后不良的最重要问题。然而,由于研究之间的巨大差异,报道的黑色素瘤风险差异很大,难以提供可靠的信息。为了评估患病率,CMN患者黑色素瘤的发病率密度和标准化发病率(SMR),我们根据注册和公布的方案(PROSPEROID#CRD42022383009),对提供CMN患者黑色素瘤风险数据的研究进行了系统的文献检索.总的来说,纳入了27项研究,共11480例CMN患者和82例黑色素瘤病例进行分析.CMN患者黑色素瘤的患病率为1.84%[95%置信区间(CI)1.13%-2.99%],大CMN(LCMN)患者为2.73%(95%CI1.67%-4.33%)。CMN患者中黑色素瘤的发生率为每100,000人年(P-Y)237.56(95%CI97.79-575.96),LCMN亚组中每100,000P-Y为585.73(95%CI315.39-1085.29)。在所有CMN患者中,黑色素瘤的SMR为122.27(95%CI11.84-1262.88),在LCMN患者中为285.97(95%CI50.65-1614.59)。我们的研究表明,CMN人群中黑色素瘤的风险似乎被先前的研究高估了,但仍明显高于正常人群。除了黑色素瘤的风险,在做出管理决策时,还应考虑审美改善和心理健康。
    BACKGROUND: Congenital melanocytic naevi (CMN) are the result of aberrations in the mitogen-activated protein kinase signal transduction pathway. The risk of melanoma is the most important concern among patients with CMN because of its poor prognosis. However, as a result of the great variability between studies, the reported risk of melanoma varies considerably, making it difficult to provide reliable information.
    OBJECTIVE: To evaluate the prevalence, incidence density and standardized morbidity ratio (SMR) of melanoma among patients with CMN.
    METHODS: We conducted a systematic literature search of studies providing data on the risk of melanoma in patients with CMN following our registered and published protocol (PROSPERO: CRD42022383009).
    RESULTS: Overall, 27 studies with a total of 11 480 patients with CMN and 82 patients developing melanoma were included for analysis. The prevalence of melanoma was 1.84% [95% confidence interval (CI) 1.13-2.99] in patients with CMN and 2.73% (95% CI 1.67-4.43) in the subgroup of patients with large CMN (LCMN). The incidence of melanoma was 237.56 (95% CI 97.79-575.96) per 100 000 person-years in patients with CMN and 585.73 (95% CI 315.39-1085.29) per 100 000 person-years in the LCMN subgroup. The SMR of melanoma was 122.27 (95% CI 11.84-1262.88) among all patients with CMN and 285.97 (95% CI 50.65-1614.59) in the subgroup of patients with LCMN.
    CONCLUSIONS: Our research suggests that the risk of melanoma in the CMN population seems to have been overestimated in previous studies, but it is still significantly higher than that in the general population. In addition to the risk of melanoma, aesthetic improvement and mental health should also be taken into account when making management decisions.
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  • 文章类型: Journal Article
    黑素细胞痣(皮肤痣)被认为是体内发生的细胞衰老的有价值的例子。然而,一项在小鼠模型中诱导痣的研究报告说,痣是通过细胞相互作用而不是像衰老这样的细胞自主过程而被捕的,癌基因诱导衰老的随机模型无法解释痣内细胞巢的大小分布。此外,其他人报道说,一些用于识别人类痣细胞衰老的分子标记物也在黑色素瘤细胞中发现,而不是衰老。因此,有人质疑痣是否真的衰老,对黑色素瘤的诊断和治疗有潜在的影响。在这里,我回顾了这些领域,随着遗传,生物,和支持痣衰老的分子证据。总之,有强有力的证据表明,获得性人类良性(平庸)痣的细胞在很大程度上是衰老的,尽管有些必须包含少量的非衰老细胞亚群。还有有说服力的证据表明,这种衰老主要是由端粒功能失调引起的,而不是直接由癌基因引起的。
    Melanocytic nevi (skin moles) have been regarded as a valuable example of cell senescence occurring in vivo. However, a study of induced nevi in a mouse model reported that the nevi were arrested by cell interactions rather than a cell-autonomous process like senescence, and that size distributions of cell nests within nevi could not be accounted for by a stochastic model of oncogene-induced senescence. Moreover, others reported that some molecular markers used to identify cell senescence in human nevi are also found in melanoma cells-not senescent. It has thus been questioned whether nevi really are senescent, with potential implications for melanoma diagnosis and therapy. Here I review these areas, along with the genetic, biological, and molecular evidence supporting senescence in nevi. In conclusion, there is strong evidence that cells of acquired human benign (banal) nevi are very largely senescent, though some must contain a minor non-senescent cell subpopulation. There is also persuasive evidence that this senescence is primarily induced by dysfunctional telomeres rather than directly oncogene-induced.
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  • 文章类型: Review
    恶性黑色素瘤,一种罕见的儿童皮肤癌,主要影响10岁以上的人。巨大的先天性痣,在大约1%的新生儿中发现,增加了风险。然而,在新生儿期诊断出的先前存在的巨大先天性痣引起的黑色素瘤非常罕见。我们介绍了一个新生儿先天性黑色素瘤的病例,结节生长在婴儿背上现有的痣上。审查了有关管理此类案件的文献。此案例强调了考虑先天性痣恶性转化的重要性及其管理中的挑战。由于报告的病例超过80年,很难提供关于生存和治疗选择的结论性发现.临床医生应报告结果,以开发新生儿黑色素瘤的管理算法。需要进一步的研究来加深对先天性巨大毛痣和相关黑色素瘤患者的病因和治疗的了解。
    Malignant melanoma, a rare skin cancer in children, primarily affects individuals over 10 years old. Giant congenital nevi, found in about 1% of newborns, increases the risk. However, the development of melanoma from a pre-existing giant congenital nevus diagnosed during the neonatal period is exceptionally rare. We present a case of congenital melanoma in a newborn, where nodules grew on an existing nevus on the baby\'s back. Literature on managing such cases was reviewed. This case highlights the importance of considering malignant transformation in congenital nevi and the challenges in their management. Due to limited reported cases over 80 years, conclusive findings on survival and treatment options are difficult to provide. Clinicians should report outcomes to develop a management algorithm for neonatal melanoma. Further studies are needed to enhance understanding of causes and treatment for patients with congenital giant hairy nevi and associated melanoma.
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  • 文章类型: Review
    简介:黑色素瘤,由不受控制的黑素细胞增殖引起的恶性肿瘤,常见于皮肤,但能够影响皮肤外部位,在诊断的肿瘤实体中排名第五,是癌症死亡的重要原因,占皮肤癌死亡率的80%以上。遗传因素和紫外线辐射(UVR)暴露,来自自然和人工来源,是主要的风险因素。病例介绍:我们报道了一名25岁女性的病例,该女性患有许多色素痣,并且由于广泛的室内晒黑而发生了显着变化。皮肤病学检查和皮肤镜评估显示两个色素痣的非典型特征,导致手术切除。组织病理学和免疫组织化学分析证实了一个病灶中的复合痣和另一个病灶中的浅表扩散黑色素瘤,强调警惕随访和正确使用免疫组织化学的重要性。讨论:室内晒黑显着提高皮肤黑色素瘤的风险,在35岁之前开始将风险放大高达75%,尤其是年轻女性。风险随着会议的累积而升级,特别是超过480人,经历30次以上的个人面临32%的风险。UVR诱导DNA损伤,基因突变,和免疫抑制,有助于肿瘤发生。遗传因素,就像PTCHD2基因一样,可能会影响晒黑的依赖性。针对未成年人的立法已在全球范围内颁布,但仅具有部分效力。鞣制促进剂,虽然伴随着轻微的副作用,与高风险行为相关。此案突显了解决室内晒黑风险的紧迫性,强调有针对性的提高认识工作和立法改进。结论:总之,报道的病例强调了与室内晒黑相关的皮肤黑色素瘤风险增加,特别是在年轻女性和特定的社会人口群体中。尽管采取了立法措施,挑战依然存在,建议涉及相关影响者的在线活动的潜在功效,以提高认识并阻止人工晒黑。
    Introduction: Melanoma, a malignant tumor arising from uncontrolled melanocytic proliferation, commonly found in the skin but capable of affecting extracutaneous sites, ranks fifth among diagnosed oncological entities and is a significant cause of cancer deaths, constituting over 80% of skin cancer mortality. Genetic factors and ultraviolet radiation (UVR) exposure, from both natural and artificial sources, are the primary risk factors. Case Presentation: We reported the case of a 25-year-old female with numerous pigmented nevi and notable changes attributed to extensive indoor tanning sessions. Dermatological examinations and dermoscopic evaluations revealed atypical features in two pigmented nevi, leading to surgical excision. Histopathological and immunohistochemical analyses confirmed a compound nevus in one lesion and superficial spreading melanoma in the other, emphasizing the importance of vigilant follow-up and the correct use of immunohistochemistry. Discussion: Indoor tanning significantly elevates the cutaneous melanoma risk, with initiation before age 35 amplifying the risk by up to 75%, especially in young women. The risk escalates with cumulative sessions, particularly exceeding 480, and individuals undergoing over 30 sessions face a 32% higher risk. UVR induces DNA damage, genetic mutations, and immunosuppression, contributing to oncogenesis. Genetic factors, like the PTCHD2 gene, may influence the tanning dependency. Legislation targeting minors has been enacted globally but only with partial efficacy. Tanning accelerators, though associated with minor side effects, correlate with high-risk behaviors. The case underscores the urgency of addressing indoor tanning risks, emphasizing targeted awareness efforts and legislative improvements. Conclusions: In conclusion, the reported case highlights the increased risk of cutaneous melanoma linked to indoor tanning, particularly among young women and specific sociodemographic groups. Despite legislative measures, challenges persist, suggesting the potential efficacy of online campaigns involving relatable influencers to raise awareness and discourage artificial tanning.
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  • 文章类型: Review
    简介:源自中枢神经系统黑素细胞的原发性黑素细胞肿瘤很少见,发病率低,每年每1000万有0.7例。本研究的重点是原发性软脑膜黑素细胞瘤,强调他们的流行病学,临床特征,和诊断挑战。尽管他们的频率不高,这些肿瘤因其独特的特征和可能的局部复发而值得关注.病例报告:一名32岁女性出现晕厥和癫痫发作,导致发现两个最初被误认为是凸面脑膜瘤的左侧幕上病变。详细的影像显示脑膜瘤样特征,但是术中发现了意想不到的色素沉着过度病变。组织病理学检查,由免疫组织化学支持,证实原发性软脑膜黑色素细胞瘤。讨论了手术方法和后续处理。讨论:讨论强调了诊断原发性软脑膜黑素细胞瘤的挑战。治疗辩论,特别是关于辅助放疗,正在探索。复发风险强调了警惕后续行动的重要性,提倡以完全手术切除为主要方法。罕见的幕上病例增加了诊断的复杂性,需要多学科方法。这种情况下的见解有助于理解和管理原发性软脑膜黑色素细胞瘤,解决从更常见的肿瘤中区分的挑战,并促进正在进行的研究,以完善的诊断和优化的治疗。结论:本研究有助于了解原发性软脑膜黑素细胞瘤,突出了它们在幕上区域的稀有性。该案例强调了多学科方法的重要性,结合临床,放射学,和组织病理学专业知识的准确诊断和量身定制的管理。持续的研究对于完善治疗策略至关重要,提高预后精度,并改善患有这种罕见中枢神经系统肿瘤的个体的结局。
    Introduction: Primary melanocytic tumors originating from CNS melanocytes are rare, with a low incidence of 0.7 cases per 10 million annually. This study focuses on primary leptomeningeal melanocytomas, emphasizing their epidemiology, clinical characteristics, and diagnostic challenges. Despite their infrequency, these tumors warrant attention due to their unique features and potential for local recurrence. Case Report: A 32-year-old female presented with syncope and seizures, leading to the discovery of two left-sided supratentorial lesions initially misidentified as convexity meningiomas. Detailed imaging suggested meningioma-like features, but intraoperative findings revealed unexpected hyperpigmented lesions. Histopathological examination, supported by immunohistochemistry, confirmed primary leptomeningeal melanocytoma. The surgical approach and subsequent management are discussed. Discussion: The discussion emphasizes challenges in diagnosing primary leptomeningeal melanocytomas. Treatment debates, especially regarding adjuvant radiotherapy, are explored. Recurrence risks stress the importance of vigilant follow-up, advocating for complete surgical resection as the primary approach. The rarity of supratentorial cases adds complexity to diagnosis, necessitating a multidisciplinary approach. Insights from this case contribute to understanding and managing primary leptomeningeal melanocytomas, addressing challenges in differentiation from more common tumors and prompting ongoing research for refined diagnostics and optimized treatments. Conclusion: This study contributes insights into primary leptomeningeal melanocytomas, highlighting their rarity in supratentorial regions. The case underscores the importance of a multidisciplinary approach, incorporating clinical, radiological, and histopathological expertise for accurate diagnosis and tailored management. Ongoing research is crucial to refine treatment strategies, enhance prognostic precision, and improve outcomes for individuals with this uncommon CNS neoplasm.
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  • 文章类型: Systematic Review
    目的:眼睑先天性黑素细胞痣(PCMN)是一种罕见的影响眼睑的先天性皮肤病变,可导致美容和心理问题以及潜在的健康风险,例如恶性肿瘤。几位作者分析了治疗PCMN的治疗策略。然而,文献中没有达成共识。本系统综述旨在评估有效性,安全,以及PCMN治疗的成功。
    方法:我们在2022年10月至2023年4月期间遵循PRISMA指南进行了系统评价。我们纳入了描述或比较PCMN治疗和干预措施的所有类型的研究设计,以及组织学,复发,不良事件,患者满意度,恶性转化。搜索策略基于通过以下数据库的特定搜索词:PubMed,Embase,拉丁美洲和加勒比健康科学文献(丁香花),WebofScience,还有Scopus.包括正在进行的研究和灰色文献研究。
    结果:我们分析了148名参与者的25例病例报告。的有效性,成功,对PCMN的各种治疗方法的满意度取决于具体的治疗方法和个体患者的情况。
    结论:大多数研究表明,外科手术(切除)能够治疗眼睑中的PCMN。结果的可变性强调了进一步研究的重要性,以更好地了解治疗先天性黑素细胞痣的最有效和最安全的方法。
    OBJECTIVE: Palpebral congenital melanocytic nevi (PCMN) is a rare congenital skin lesion affecting the eyelids that can lead to cosmetic and psychological concerns and potential health risks such as malignancy. Several authors have analyzed therapeutical strategies to treat PCMN. However, there was no consensus in the literature. This systematic review aimed to evaluate the effectiveness, safety, and success of treatments of PCMN.
    METHODS: We conducted a systematic review following PRISMA guidelines from October 2022 to April 2023. We included all types of study designs that described or compared PCMN treatments and interventions, as well as histology, recurrence, adverse events, patient satisfaction, and malignant transformation. The search strategy was based on specific search words through the following databases: PubMed, Embase, Latin American and Caribbean Health Sciences Literature (Lilacs), Web of Science, and Scopus. Ongoing studies and gray literature studies were included.
    RESULTS: We analyzed 25 case reports with 148 participants. The effectiveness, success, and satisfaction with various treatments for PCMN depend on the specific treatment method and the individual patient\'s case.
    CONCLUSIONS: Most of the studies showed that surgical procedures (exeresis) are able to treat PCMN in the eyelid. The variability in outcomes emphasizes the importance of further research to better understand the most effective and safe approaches for treating congenital melanocytic nevi.
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  • 文章类型: Journal Article
    先天性黑素细胞痣(CMN)是由合子后体细胞突变引起的丝裂原活化蛋白激酶信号转导通路畸变的结果。CMN新生儿的估计发病率为1%-2%。CMN的主要并发症包括增生性结节,黑色素瘤,和神经皮肤黑变病,后两者是最棘手的问题。治疗主要考虑美学目的和降低黑素瘤风险。由于在最近的研究中观察到的恶性转化的发生率比以前的数据低得多,CMN患者的临床管理模式已逐渐转向保守观察和密切监测.手术和激光仍然是主要的治疗方法,和靶向治疗可能是一个有希望的策略,以帮助管理并发症。随着人们对心理健康意识的提高,CMN患者及其父母的生活质量(QoL)和心理问题受到越来越多的关注。最近的研究表明,应对CMN的家庭可能会承受巨大的压力,QoL的重大损失,诊断后和治疗期间的心理问题。这里,我们试图概述遗传基础,并发症,治疗,与CMN相关的心理问题,希望为CMN患者提供更好的管理。
    Congenital melanocytic nevi (CMN) are the result of aberrations in the mitogen-activated protein kinase signal transduction pathway caused by postzygotic somatic mutations. The estimated incidence of newborns with CMN is 1%-2%. The main complications of CMN include proliferative nodules, melanomas, and neurocutaneous melanosis, and the latter two are the most troublesome issues to address. Treatments are primarily taken into account for aesthetic purposes and the reduction of melanoma risk. Due to the much lower incidence of malignant transformation observed in recent studies than in previous data, clinical management paradigms for CMN patients have gradually shifted towards conservative observation and close monitoring. Surgery and lasers are still the main treatments, and targeted therapy may be a promising strategy to help manage complications. With the increase in awareness of mental health, increasing focus has been placed on the quality of life (QoL) and psychological issues of both CMN patients and their parents. Recent studies have revealed that families coping with CMN might endure intense pressure, a major loss in QoL, and psychological problems after diagnosis and during treatment. Here, we sought to present an overview of genetic basis, complications, treatments, and psychological issues related to CMN and hope to provide better management for patients with CMN.
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  • 原发性葡萄膜黑素瘤是罕见的,并且在全世界每年影响大约8,000人。这种恶性肿瘤可能涉及虹膜,睫状体,和脉络膜.在这三种结构中,虹膜是最不常见的部位,仅占所有葡萄膜黑色素瘤的4%。虹膜黑素瘤可以由虹膜黑素细胞痣引起,虹膜黑素细胞增多症,或者从头。在一项对1,611例虹膜痣患者的纵向研究中,转化为黑色素瘤,使用Kaplan-Meier估计,在5年内发现2.6%,在10年内发现4.1%。预测虹膜黑素细胞痣生长为黑色素瘤的因素被字母(ABCDEF)指南记住,该指南代表A年龄≤40岁(HR=3,p=0.01),B表示血液(前房积血)(HR=9,p<0.0004),C表示肿瘤下方的时钟小时(肿瘤位置)(HR=9,p=0.03),D表示弥漫性扁平肿瘤构型(HR=14,p=0.02),外翻为E(HR=4,p=0.002),和F为羽毛不明确的边缘(HR=3,p=0.02)。诊断时,虹膜黑色素瘤显示平均横截面直径为5.5mm,厚度为2.1mm的临床特征,常伴有肿瘤种植(28%)和继发性青光眼(35%)。在这里,我们提供了虹膜痣和黑色素瘤的全面综述,以探索相关的人口统计学和临床数据,肿瘤生长的危险因素,管理,和预后,希望临床医生能够更舒适地理解这种罕见的恶性肿瘤。
    Primary uveal melanoma is rare and affects approximately 8,000 persons per year worldwide. This malignancy can involve the iris, ciliary body, and choroid. Of these three structures, the iris is the least commonly affected site, representing only 4% of all uveal melanomas. Iris melanoma can arise from iris melanocytic nevus, iris melanocytosis, or de novo. In a longitudinal study of 1,611 patients with iris nevus, transformation into melanoma, using Kaplan-Meier estimates, was found in 2.6% by five years and in 4.1% by 10 years. The factors that predicted growth of iris melanocytic nevus into melanoma are denoted by a letter (ABCDEF) guide: A for age ≤40 years old at presentation (hazard ratio [HR] = 3, P = .01), B for blood (hyphema) (HR = 9, P < .0004), C for clock hour of tumor inferiorly (tumor location) (HR = 9, P = .03), D for diffuse flat tumor configuration (HR = 14, P = .02), E for ectropion uveae (HR = 4, P = .002), and F for feathery ill-defined margins (HR = 3, P = .02). At diagnosis, iris melanoma has a mean cross-sectional diameter of 5.5 mm and thickness of 2.1 mm, often with tumor seeding (28%) and secondary glaucoma (35%). We provide a comprehensive review of iris nevus and melanoma to explore relevant demographic and clinical data, risk factors for tumor growth, management, and prognosis, with the hope that clinicians will be more comfortable in understanding this rare malignant condition.
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