Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS

Chao Kai Hsu, Ryo Saito, Arti Nanda, Ellie Rashidghamat, Hejab Al-Ajmi, Julia Yu Yun Lee, Michihiro Hide, John A. McGrath

研究成果: Article同行評審

1 引文 斯高帕斯(Scopus)


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.

頁(從 - 到)58-60
期刊Australasian Journal of Dermatology
出版狀態Published - 2017 二月 1

All Science Journal Classification (ASJC) codes

  • Dermatology

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