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.
authors.affiliation: St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.|Department of Dermatology, National Cheng Kung University Hospital, , National Cheng Kung University, Tainan, Taiwan.|Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: Chao-Kai
authors.initials: CK
authors.lastname: Hsu
authors.affiliation: St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.|Department of Dermatology, Hiroshima University, Hiroshima, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Saito
authors.affiliation: As' ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait, Kuwait.
authors.forename: Arti
authors.initials: A
authors.lastname: Nanda
authors.affiliation: St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.
authors.forename: Ellie
authors.initials: E
authors.lastname: Rashidghamat
authors.affiliation: As' ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait, Kuwait.
authors.forename: Hejab
authors.initials: H
authors.lastname: Al-Ajmi
authors.affiliation: Department of Dermatology, National Cheng Kung University Hospital, , National Cheng Kung University, Tainan, Taiwan.
authors.forename: Julia Yu-Yun
authors.initials: JY
authors.lastname: Lee
authors.affiliation: Department of Dermatology, Hiroshima University, Hiroshima, Japan.
authors.forename: Michihiro
authors.initials: M
authors.lastname: Hide
authors.affiliation: St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009506:Nevus / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D012626:Sebaceous Gland Neoplasms / Q000235:genetics*
chemical_list: C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)
keywords: HRAS; RASopathy; Schimmelpenning-Feuerstein-Mims syndrome; naevus sebaceus