Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS

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• 作者：Chao-Kai Hsu ; Ryo Saito ; Arti Nanda ; Ellie Rashidghamat ; Hejab Al-Ajmi ; Julia Yu-Yun Lee ; Michihiro Hide and John A McGrath
• 刊名：Australasian Journal of Dermatology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：58
• 期：1
• 页码：58-60
• 全文大小：14328K
• ISSN：1440-0960

文摘

Naevus sebaceus has recently been shown to result from post-zygotic mutations in HRAS, KRAS or occasionally NRAS. We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. This case highlights the clinicopathological and molecular findings of this naevoid disorder as well as the key issues in the clinical assessment and management of such patients.