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

doi:10.1111/ajd.12399

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

Department of Dermatology

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	58-60
Number of pages	3
Journal	Australasian Journal of Dermatology
Volume	58
Issue number	1
DOIs	https://doi.org/10.1111/ajd.12399
Publication status	Published - 2017 Feb 1

All Science Journal Classification (ASJC) codes

Dermatology

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10.1111/ajd.12399

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abstract = "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.",

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AU - Hsu, Chao Kai

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AU - Nanda, Arti

AU - Rashidghamat, Ellie

AU - Al-Ajmi, Hejab

AU - Lee, Julia Yu Yun

AU - Hide, Michihiro

AU - McGrath, John A.

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AB - 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.

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