成人神经皮肤黑变病一例临床特征分析及文献复习  

Clinical features of adults neurocutaneous melanosis:a case report and literature review

作　　者：刘艳茹 冯慧娜 张博爱[1] 李京红[1] LIU Yanru;FENG Huina;ZHANG Boai;LI Jinghong(Department of Neurology,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第一附属医院神经内科,郑州450052

出　　处：《郑州大学学报（医学版）》2023年第5期726-734,共9页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省高等学校重点科研项目(21A320031)。

摘　　要：目的:探讨成人神经皮肤黑变病(NCM)的临床特征、组织病理学、治疗及预后。方法:总结2021年3月就诊于郑州大学第一附属医院的1例成年NCM患者的临床资料,并系统性回顾国内外文献报道的成人NCM病例,对其皮肤特征、临床表现、影像学、组织病理学、脑脊液、治疗及预后进行分析。结果:本例患者为60岁女性,临床表现为颅高压、脊髓等神经精神障碍,合并多发先天性黑色素细胞痣,MRI示沿脑沟脑回分布的FLAIR序列高信号,脑积水伴弥漫性柔脑膜强化,脑脊液发现黑色素细胞,免疫组化染色阳性,未发现中枢神经系统外肿瘤证据。英文文献中收集成年NCM患者56例,中文文献收集19例。巨大或多发黑色素细胞痣是该类型患者重要的皮肤特征,主要分布于躯干(86.0%;84.2%)。颅高压(66.7%;84.2%)、癫痫(43.1%;52.6%)是主要临床表现,可累及脊髓(17.6%;5.3%)。弥漫性脑脊膜及占位性病变是最常见的影像学特征,可合并Dandy-Walker畸形(7.5%;5.3%)。组织病理恶性比例高,总体死亡率71.4%(40/56)。结论:NCM临床特征具有年龄异质性。颅高压和癫痫及弥漫性脑膜病变和颅内占位性病变分别是成人NCM最常见的临床及影像学特征,恶性比例高,预后差。Aim:To investigate the clinical features,histopathology,treatment and prognosis of neurocutaneous melanosis(NCM)in adults.Methods:A case of adult NCM was reported in the First Affiliated Hospital of Zhengzhou University in March 2021.In addition,a retrospective analysis of adult NCM was performed with literature review.The skin features,clinical presentation,neuroimaging,histopathology,cerebrospinal fluid,treatment and prognosis of adult NCM were summarized and analyzed.Results:The current case was a 60-year-old female who developed intracranial hypertension,spinal cord involvement and other neuropsychiatric disorders.General physical examination revealed the presence of multiple congenital melanocytic nevi on the body.Brain MRI showed hyperintensity along sulcal spaces on FLAIR sequence and hydrocephalus with diffuse leptomeningeal enhancement.Cerebrospinal fluid cytology revealed atypical melanocytes with brown pigment and immunopositivity for HMB-45,Melan-A and S-100.There was no evidence of a neoplasmic origin outside of the central nervous system.Totally 56 cases of adults NCM were collected in English literature and 19 cases in Chinese literature.Their clinical characteristics were described respectively.Large or multiple congenital melanocytic nevi were the distinctive skin features in the cases,located primarily on the trunk(86.0%;84.2%).Intracranial hypertension(66.7%;84.2%)and epilepsy(43.1%;52.6%)were the most common clinical presentations,and spinal cord(17.6%;5.3%)could be involved.The lesions of diffuse leptomeningeal enhancement and intracranial mass were the most common neuroimaging features,occasionally associated with Dandy-Walker malformation(7.5%;5.3%).Adult NCM patients had a high incidence of malignant transformation,and carried a significant mortality(71.4%).Conclusion:The clinical features of NCM present age heterogeneity.Intracranial hypertension and epilepsy,the diffuse leptomeningeal enhancement and intracranial mass lesions are the cardinal clinical and neuroimaging features,associated

关 键 词：神经皮肤黑变病 黑色素细胞痣 先天性 脑膜黑色素细胞增多症 黑色素肿瘤 中枢神经系统 

分 类 号：R741[医药卫生—神经病学与精神病学]