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Systematised naevus sebaceus resulting from post‐zygotic mutation in HRAS
Author(s) -
Hsu ChaoKai,
Saito Ryo,
Nanda Arti,
Rashidghamat Ellie,
AlAjmi Hejab,
Lee Julia YuYun,
Hide Michihiro,
McGrath John A
Publication year - 2017
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/ajd.12399
Subject(s) - hras , neuroblastoma ras viral oncogene homolog , kras , medicine , mutation , genetics , cancer research , biology , gene
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.37 G > C ; p. G ly13 A rg), 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.