Giant congenital melanocytic nevi: The significance of neurocutaneous melanosis in neurologically asymptomatic children
Giant congenital melanocytic nevi: The significance of neurocutaneous melanosis in neurologically asymptomatic children
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DOI：
10.1097/00006534-200104010-00005
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发表时间：
2001-04-01
影响因子：
3.6
通讯作者：
Frieden, IJ
中科院分区：
文献类型：
--
作者：
Foster, RD;Williams, ML;Frieden, IJ
患有巨大先天性黑素细胞痣的患者可发展为以中枢神经系统受累为特征的黑素肿瘤，称为软脑膜黑素细胞增多症或神经皮肤黑变病。虽然有症状的神经皮肤黑变病是罕见的，我们以前报道过明显的磁共振（MR）结果T1缩短，强烈提示神经皮肤黑变病，在30%（6/20）的巨大先天性黑色素细胞痣的儿童谁最初没有神经系统症状。本研究的目的是确定神经皮肤黑变病在高危患者中的发病率及其长期的临床意义，建议对所有46例患有“高危”巨大先天性黑色素细胞痣的患者进行磁共振成像，这些患者的皮肤覆盖在背棘或头皮上。通过回顾性病历审查对这些患者的临床病史和随访进行评价。42例接受了脑部MR成像，11例接受了脊髓MR扫描。在43项MR研究中，有14项发现了异常，23%（n = 10）的T1缩短表明大脑或脑膜内存在黑色素沉着。无相关肿块或软脑膜增厚。这10例中最常见的受累区域包括杏仁核（n = 8）、小脑（n = 5）和笔（n = 3）。在11例脊髓MR扫描的患者中，1例显示脊髓栓系。MR扫描还发现了其他异常，包括中颅窝蛛网膜囊肿、基亚里I型畸形和新月形增强，随后消退。平均5年（范围2 - 8年）的临床随访显示，46例评价患者中仅1例出现神经系统症状，表现为发育迟缓、张力减退和可疑癫痫发作，但无其他神经皮肤黑变病体征。没有患者发生皮肤或中枢神经系统黑色素瘤。神经皮肤黑变病的磁共振表现是相对常见的，即使是在无症状的巨大先天性黑色素细胞痣的儿童。虽然这些发现表明中枢神经系统黑色素瘤的终生风险增加，但它们并不意味着儿童期最终发展为有症状的神经皮肤黑变病。
Patients with a giant congenital melanocytic nevus can develop melanotic tumors characterized by central nervous system involvement, termed leptomeningeal melanocytosis or neurocutaneous melanosis. Although symptomatic neurocutaneous melanosis is rare, we previously reported distinct magnetic resonance (MR) findings of T1 shortening, strongly suggestive of neurocutaneous melanosis, in 30 percent (6 of 20) of children with giant congenital melanocytic nevi who presented initially without neurological symptoms. The purpose of this study was to determine the incidence of neurocutaneous melanosis in high-risk patients and its long-term clinical significance.Magnetic resonance imaging was recommended for all 46 patients with "at-risk" giant congenital melanocytic nevi involving the skin overlying the dorsal spine or scalp. The clinical histories and follow-up of these patients were evaluated by retrospective chart review. Forty-two underwent MR imaging of the brain and 11 underwent additional MR scanning of the spinal cord. Abnormalities were identified in 14 of 43 MR studies, and 23 percent (n = 10) had T1 shortening indicative of melanotic rests within the brain or meninges. None had associated masses or leptomeningeal thickening. The most common areas of involvement in these 10 included the amygdala (n = 8), cerebellum (n = 5), and pens (n = 3). In the group of 11 patients with spinal MR scans, a tethered spinal cord was demonstrated in one. Additional abnormalities were detected by MR scanning, including a middle cranial fossa arachnoid cyst, a Chiari type I malformation, and a crescentic enhancement that subsequently resolved. Clinical follow-up averaging 5 years (range, 2 to 8 years) revealed that only one of the 46 patients evaluated developed neurological symptoms, manifested as developmental delay, hypotonia, and questionable seizures but no other signs of neurocutaneous melanosis. No patient has developed a cutaneous or central nervous system melanoma. Magnetic resonance findings of neurocutaneous melanosis are relatively common, even in asymptomatic children with giant congenital melanocytic nevi. Although these findings suggest an increased lifetime risk of central nervous system melanoma, they do not signify the eventual development of symptomatic neurocutaneous melanosis during childhood.