与一种新型嵌合杂合性PTPN11变异相关的线状表皮痣
Linear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant.
作者信息
Jiang Xingyuan, Chen Tiffany X, Hu Ronghua, Mortlock Ryland D, Ko Christine, Choate Keith A
机构信息
Department of Dermatology, Yale University, New Haven, CT, USA.
Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
出版信息
Br J Dermatol. 2025 Aug 18;193(3):568-570. doi: 10.1093/bjd/ljaf210.
We report the first case of linear epidermal naevus (LEN) associated with a novel mosaic heterozygous variant (c.C1361 T, p.P454L). Genetic and histopathological analysis revealed increased RAS/mitogen-activated protein kinase pathway activation in affected skin, suggesting a distinct molecular mechanism linking mosaicism to LEN. Our findings expand the genetic spectrum of LEN and provide insights into the role of in cutaneous mosaic disorders.
我们报告了首例与一种新型嵌合杂合变体（c.C1361T，p.P454L）相关的线性表皮痣（LEN）病例。基因和组织病理学分析显示，受累皮肤中RAS/丝裂原活化蛋白激酶途径的激活增加，提示一种将嵌合现象与LEN联系起来的独特分子机制。我们的发现扩展了LEN的基因谱，并为其在皮肤嵌合性疾病中的作用提供了见解。
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