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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)58-60
Number of pages3
JournalAustralasian Journal of Dermatology
Volume58
Issue number1
DOIs
Publication statusPublished - 2017 Feb 1

All Science Journal Classification (ASJC) codes

  • Dermatology

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