Abstract：
OBJECTIVE: Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Due to the rarity of NCM, there are no specific guidelines for management. The aims of this systematic review were to investigate approaches toward diagnosis and examine modern neurosurgical management of NCM.
METHODS: A systematic review was performed using the PubMed database between April and December 2021 to identify relevant articles using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search criteria were created and checked independently among the authors. Inclusion criteria specified unique studies and case reports of NCM patients in which relevant neurosurgical management was considered and/or applied. Exclusion criteria included studies that did not report associated neurological diagnoses and neuroimaging findings, clinical reports without novel observations, and those unavailable in the English language. All articles that met the study inclusion criteria were included and analyzed.
RESULTS: A total of 26 extracted articles met inclusion criteria and were used for quantitative analysis, yielding a cumulative of 74 patients with NCM. These included 21 case reports, 1 case series, 2 retrospective cohort studies, 1 prospective cohort study, and 1 review. The mean patient age was 16.66 years (range 0.25-67 years), and most were male (76%). Seizures were the most frequently reported symptom (55%, 41/74 cases). Neurological diagnoses associated with NCM included epilepsy (45%, 33/74 cases), hydrocephalus (24%, 18/74 cases), Dandy-Walker malformation (24%, 18/74 cases), and primary CNS melanocytic tumors (23%, 17/74 cases). The most common surgical technique was CSF shunting (43%, 24/56 operations), with tethered cord release (4%, 2/56 operations) being the least frequently performed.
CONCLUSIONS: Current management of NCM includes CSF shunting to reduce intracranial pressure, surgery, chemotherapy, radiotherapy, immunotherapy, and palliative care. Neurosurgical intervention can aid in the diagnosis of NCM through tissue biopsy and resection of lesions with surgical decompression. Further evidence is required to establish the clinical outcomes of this rare entity and to describe the diverse spectrum of intracranial and intraspinal abnormalities present.
METHODS: A systematic review was performed using the PubMed database between April and December 2021 to identify relevant articles using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search criteria were created and checked independently among the authors. Inclusion criteria specified unique studies and case reports of NCM patients in which relevant neurosurgical management was considered and/or applied. Exclusion criteria included studies that did not report associated neurological diagnoses and neuroimaging findings, clinical reports without novel observations, and those unavailable in the English language. All articles that met the study inclusion criteria were included and analyzed.
RESULTS: A total of 26 extracted articles met inclusion criteria and were used for quantitative analysis, yielding a cumulative of 74 patients with NCM. These included 21 case reports, 1 case series, 2 retrospective cohort studies, 1 prospective cohort study, and 1 review. The mean patient age was 16.66 years (range 0.25-67 years), and most were male (76%). Seizures were the most frequently reported symptom (55%, 41/74 cases). Neurological diagnoses associated with NCM included epilepsy (45%, 33/74 cases), hydrocephalus (24%, 18/74 cases), Dandy-Walker malformation (24%, 18/74 cases), and primary CNS melanocytic tumors (23%, 17/74 cases). The most common surgical technique was CSF shunting (43%, 24/56 operations), with tethered cord release (4%, 2/56 operations) being the least frequently performed.
CONCLUSIONS: Current management of NCM includes CSF shunting to reduce intracranial pressure, surgery, chemotherapy, radiotherapy, immunotherapy, and palliative care. Neurosurgical intervention can aid in the diagnosis of NCM through tissue biopsy and resection of lesions with surgical decompression. Further evidence is required to establish the clinical outcomes of this rare entity and to describe the diverse spectrum of intracranial and intraspinal abnormalities present.
摘要：
目标：神经皮肤黑素细胞增多症（NCM），也被称为神经皮肤黑变病，是一种罕见的神经皮肤疾病，其特征是皮肤中黑素细胞过度增生，软脑膜,和颅骨实质.NCM最常出现在生命的头2年内的儿科患者中，并且由于大脑中黑素细胞的增殖而与高死亡率相关。预后很差,因为患者通常在症状发作后3年内死亡。由于NCM的稀有性,没有具体的管理准则。本系统综述的目的是研究NCM的诊断方法和现代神经外科治疗方法。
方法：在2021年4月至12月间使用PubMed数据库进行系统评价，以使用PRISMA（系统评价和荟萃分析的首选报告项目）指南确定相关文章。在作者之间独立创建和检查搜索标准。纳入标准指定了NCM患者的独特研究和病例报告，其中考虑和/或应用了相关的神经外科治疗。排除标准包括未报告相关神经系统诊断和神经影像学检查结果的研究。没有新观察的临床报告，以及那些无法使用英语的人。纳入并分析所有符合研究纳入标准的文章。
结果：共26篇提取的文章符合纳入标准，用于定量分析，累计产生74例NCM患者。其中包括21例病例报告，1个案例系列，2项回顾性队列研究，1项前瞻性队列研究，1审查。患者平均年龄为16.66岁（范围为0.25-67岁），大多数是男性（76％）。癫痫发作是最常见的症状(55%，41/74例)。与NCM相关的神经系统诊断包括癫痫(45%，33/74例），脑积水（24%，18/74例），丹迪-沃克畸形(24%，18/74例），和原发性中枢神经系统黑素细胞肿瘤(23%，17/74例）。最常见的手术技术是脑脊液分流(43%，24/56操作），系绳释放(4%，2/56操作）是执行频率最低的。
结论：目前NCM的管理包括CSF分流以降低颅内压，手术,化疗,放射治疗,免疫疗法，和姑息治疗。神经外科干预可以通过组织活检和手术减压切除病灶来帮助诊断NCM。需要进一步的证据来确定这种罕见实体的临床结果，并描述存在的颅内和脊柱内异常的各种频谱。
方法：在2021年4月至12月间使用PubMed数据库进行系统评价，以使用PRISMA（系统评价和荟萃分析的首选报告项目）指南确定相关文章。在作者之间独立创建和检查搜索标准。纳入标准指定了NCM患者的独特研究和病例报告，其中考虑和/或应用了相关的神经外科治疗。排除标准包括未报告相关神经系统诊断和神经影像学检查结果的研究。没有新观察的临床报告，以及那些无法使用英语的人。纳入并分析所有符合研究纳入标准的文章。
结果：共26篇提取的文章符合纳入标准，用于定量分析，累计产生74例NCM患者。其中包括21例病例报告，1个案例系列，2项回顾性队列研究，1项前瞻性队列研究，1审查。患者平均年龄为16.66岁（范围为0.25-67岁），大多数是男性（76％）。癫痫发作是最常见的症状(55%，41/74例)。与NCM相关的神经系统诊断包括癫痫(45%，33/74例），脑积水（24%，18/74例），丹迪-沃克畸形(24%，18/74例），和原发性中枢神经系统黑素细胞肿瘤(23%，17/74例）。最常见的手术技术是脑脊液分流(43%，24/56操作），系绳释放(4%，2/56操作）是执行频率最低的。
结论：目前NCM的管理包括CSF分流以降低颅内压，手术,化疗,放射治疗,免疫疗法，和姑息治疗。神经外科干预可以通过组织活检和手术减压切除病灶来帮助诊断NCM。需要进一步的证据来确定这种罕见实体的临床结果，并描述存在的颅内和脊柱内异常的各种频谱。
