Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS.
Australas J Dermatol
; 58(1): 58-60, 2017 Feb.
Article
em En
| MEDLINE
| ID: mdl-26400620
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias das Glândulas Sebáceas
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Proteínas Proto-Oncogênicas p21(ras)
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Nevo
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article