一例伴有体细胞HRAS p.G12S突变的羊毛状毛发痣、多发性线状色素沉着和表皮痣。
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation.
作者信息
Nishihara Katsuhiko, Tohyama Mikiko, Kubo Akiharu
机构信息
Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Department of Biochemistry, Keio University School of Medicine, Tokyo, Japan.
出版信息
Pediatr Dermatol. 2019 May;36(3):368-371. doi: 10.1111/pde.13783. Epub 2019 Mar 12.
Abstract
Woolly hair nevus is a rare syndrome that presents as woolly hair in restricted areas of the scalp and may be associated with pigmented macules or epidermal nevus on the body. Here, we report a case of woolly hair nevus, linear pigmentation, and multiple epidermal nevi with a somatic HRAS c.34G>A(p.G12S) mutation.
摘要
羊毛状发痣是一种罕见的综合征，表现为头皮局限区域出现羊毛状发，可能伴有身体上的色素斑或表皮痣。在此，我们报告一例伴有体细胞HRAS基因c.34G>A（p.G12S）突变的羊毛状发痣、线状色素沉着和多发性表皮痣病例。
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