Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Clin Genet. 2023 Nov;104(5):593-597. doi: 10.1111/cge.14402. Epub 2023 Jul 27.
Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next-generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases.
痣样神经皮肤黑变病（NS）由多种类型组成，其特征是先天性色素沉着斑块内存在可变的、甚至重叠的病变，这些病变起源于黑素细胞谱系细胞。不同 NS 表型的分子机制和分类仍不清楚。本研究采用基于下一代测序的panel 对 5 例具有 NS 表型的儿童进行了基因分型。对活检、血液样本和毛囊的 DNA 进行测序以确认是否存在体细胞突变。测序结果表明，所有黑素痣活检标本中均存在 NRAS 或 HRAS 基因的体细胞突变，而血液和毛囊样本中未检测到致病性变异。本研究成功鉴定了 5 例具有不同 NS 表型的非相关儿童的体细胞突变。此外，它提供了典型的图像和不同 NS 表型之间的鉴别诊断，包括临床、病理和遗传特征，并首次提出了临床诊断算法，有助于简化和优化这些重叠疾病的诊断和管理。
