Department of Pediatrics, Division of Pediatric Dermatology, Dell Medical School, University of Texas, 1301 Barbara Jordan Blvd, Suite 200A, Austin, TX 78723, United States.
Semin Pediatr Neurol. 2024 Oct;51:101153. doi: 10.1016/j.spen.2024.101153. Epub 2024 Sep 13.
Congenital melanocytic nevus syndrome describes congenital melanocytic nevi (CMN) associated with extracutaneous abnormalities, most often involving the nervous system. CMN syndrome is usually caused by postzygotic mutations in the neuroblastoma RAS viral oncogene homolog (NRAS) gene. CMN, collections of melanocytes within the skin, are typically multiple in number and serve as a visible, cutaneous marker of this syndrome. CMN can be classified by predicted maximum diameter in adulthood as well as other clinical features such as anatomic location, color heterogeneity, hypertrichosis, number of satellite nevi, nodules, and surface rugosity. Common neurological abnormalities in CMN syndrome include melanin with the central nervous system (CNS), seizures, and neurodevelopmental delays. Early screening magnetic resonance imaging (MRI) of the CNS during the initial months of life is crucial for predicting the risk of neurodevelopmental abnormalities, seizures, and the need for neurosurgical intervention. Children with a normal screening CNS MRI or intraparenchymal melanosis alone tend to have favorable outcomes. Prognosis otherwise varies widely given the breadth of neurological abnormalities that can occur in CMN syndrome, however if primary melanoma develops in the skin or CNS then outcomes are typically poor.
先天性黑色素细胞痣综合征是指先天性黑色素细胞痣（CMN）伴发皮肤外异常，最常累及神经系统。CMN 综合征通常由神经母细胞瘤 RAS 病毒致癌基因同源物（NRAS）基因的合子后突变引起。CMN 是皮肤内黑色素细胞的聚集，通常数量较多，是该综合征的可见皮肤标志物。CMN 可以根据成年时预测的最大直径以及其他临床特征（如解剖位置、颜色异质性、多毛症、卫星痣数量、结节和表面粗糙）进行分类。CMN 综合征中常见的神经异常包括黑色素细胞累及中枢神经系统（CNS）、癫痫发作和神经发育迟缓。在生命最初几个月对 CNS 进行早期筛查性磁共振成像（MRI）对于预测神经发育异常、癫痫发作和需要神经外科干预的风险至关重要。具有正常筛查性 CNS MRI 或单纯脑实质黑色素沉着的儿童往往预后良好。然而，如果皮肤或 CNS 中出现原发性黑色素瘤，则预后通常较差，因为 CMN 综合征中可能发生广泛的神经异常。
