1Rowan University School of Osteopathic Medicine, Stratford, New Jersey.
2Department of Neurological Surgery, Rutgers New Jersey Medical School, Newark, New Jersey.
Neurosurg Focus. 2022 May;52(5):E8. doi: 10.3171/2022.2.FOCUS21791.
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.
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.
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.
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.
神经皮肤黑色素细胞瘤（NCM），也称为神经皮肤黑色素沉着症，是一种罕见的神经皮肤疾病，其特征是皮肤、软脑膜和颅实质中黑色素细胞过度增殖。NCM 最常发生在生命的头 2 年内的儿科患者中，由于黑色素细胞在大脑中的增殖，死亡率很高。由于 NCM 非常罕见，因此没有针对其管理的具体指南。本系统综述的目的是探讨其诊断方法，并研究现代神经外科治疗 NCM 的方法。
我们使用 PubMed 数据库在 2021 年 4 月至 12 月间进行了一项系统综述，根据 PRISMA（系统评价和荟萃分析的首选报告项目）指南使用检索词来确定相关文章。作者独立创建并检查了检索词。纳入标准规定了考虑和/或应用相关神经外科治疗的 NCM 患者的独特研究和病例报告。排除标准包括未报告相关神经诊断和神经影像学发现的研究、无新观察结果的临床报告以及英文以外的研究。纳入所有符合研究纳入标准的文章并进行分析。
共提取了 26 篇符合纳入标准的文章进行定量分析，共纳入 74 例 NCM 患者，包括 21 篇病例报告、1 篇病例系列、2 篇回顾性队列研究、1 篇前瞻性队列研究和 1 篇综述。患者的平均年龄为 16.66 岁（0.25-67 岁），多数为男性（76%）。癫痫发作是最常报道的症状（55%，41/74 例）。与 NCM 相关的神经诊断包括癫痫（45%，33/74 例）、脑积水（24%，18/74 例）、Dandy-Walker 畸形（24%，18/74 例）和原发性中枢神经系统黑色素细胞瘤（23%，17/74 例）。最常见的手术技术是脑脊液分流术（43%，24/56 例手术），而脊髓栓系松解术（4%，2/56 例手术）是最不常进行的手术。
目前 NCM 的治疗包括降低颅内压的脑脊液分流术、手术、化疗、放疗、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来帮助诊断 NCM，并切除病变。需要进一步的证据来确定这一罕见实体的临床结果，并描述存在的颅内和椎管内多种异常。
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