关键词: complication congenital melanocytic nevi genetic basis quality of life treatment

Mesh : Humans Infant, Newborn Skin Neoplasms / diagnosis genetics therapy Quality of Life Nevus, Pigmented / diagnosis genetics therapy Risk Factors Melanoma / diagnosis genetics therapy Biological Products

来  源:   DOI:10.1111/1346-8138.17025

Abstract:
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.
摘要:
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。
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