Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyoku, Kyoto, 6068507, Japan.
Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, Kyoto University, Kyoto, 606-8507, Japan.
Sci Rep. 2023 Sep 30;13(1):16442. doi: 10.1038/s41598-023-43829-w.
Neurocutaneous melanosis (NCM) is a rare, non-hereditary neurocutaneous disorder characterized by excessive melanocytic proliferation in the skin and central nervous system. As no major studies have covered the incidence of NCM among Japanese patients with congenital melanocytic nevi (CMN), we prospectively investigated the incidence of NCM among Japanese patients who underwent initial treatment for CMN. The relationship of CMN and NCM was also investigated. Japanese pediatric patients with CMN under 1 year of age were included between January 2020 and November 2022, and all patients underwent brain MRI to check for NCM in this study. NCM lesions were most frequently seen in the amygdala, followed by the cerebellum, brainstem, and cerebral hemispheres. NCM was diagnosed on brain MRI in 31.6% of the 38 patients with CMN and in 25.0% of patients with no prior examination or treatment. Distribution and size of CMN, number of satellite nevi, rugosity and nodules were strongly associated with the existence of NCM, and these findings may guide a future registry study with a large cohort of CMN patients.
神经皮肤黑色素沉着症（NCM）是一种罕见的、非遗传性神经皮肤疾病，其特征是皮肤和中枢神经系统中黑色素细胞过度增殖。由于没有大型研究涵盖日本先天性黑色素痣（CMN）患者中 NCM 的发病率，我们前瞻性地调查了接受 CMN 初始治疗的日本患者中 NCM 的发病率。还研究了 CMN 和 NCM 之间的关系。本研究纳入了 2020 年 1 月至 2022 年 11 月期间年龄在 1 岁以下的日本 CMN 儿科患者，所有患者均接受了脑部 MRI 检查以排除 NCM。NCM 病变最常发生在杏仁核，其次是小脑、脑干和大脑半球。在 38 例 CMN 患者中，有 31.6%的患者在脑部 MRI 上诊断出 NCM，而在 25.0%的既往无检查或治疗的患者中诊断出 NCM。CMN 的分布和大小、卫星痣的数量、隆起和结节与 NCM 的存在密切相关，这些发现可能为未来对大量 CMN 患者进行的注册研究提供指导。
