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

3 Citations (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

Access to Document

10.1111/ajd.12399

Cite this

@article{5721a7de1d62448a83abc30b3c2322c6,

title = "Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS",

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.",

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

note = "Publisher Copyright: {\textcopyright} 2015 The Australasian College of Dermatologists",

year = "2017",

month = feb,

day = "1",

doi = "10.1111/ajd.12399",

language = "English",

volume = "58",

pages = "58--60",

journal = "Australasian Journal of Dermatology",

issn = "0004-8380",

publisher = "Wiley-Blackwell",

number = "1",

}

TY - JOUR

T1 - Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS

AU - Hsu, Chao Kai

AU - Saito, Ryo

AU - Nanda, Arti

AU - Rashidghamat, Ellie

AU - Al-Ajmi, Hejab

AU - Lee, Julia Yu Yun

AU - Hide, Michihiro

AU - McGrath, John A.

PY - 2017/2/1

Y1 - 2017/2/1

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=84945262993&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84945262993&partnerID=8YFLogxK

U2 - 10.1111/ajd.12399

DO - 10.1111/ajd.12399

M3 - Article

C2 - 26400620

AN - SCOPUS:84945262993

VL - 58

SP - 58

EP - 60

JO - Australasian Journal of Dermatology

JF - Australasian Journal of Dermatology

SN - 0004-8380

IS - 1

ER -

Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this