Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS.
Australas J Dermatol
; 58(1): 58-60, 2017 Feb.
Article
en 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.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Neoplasias de las Glándulas Sebáceas
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Proteínas Proto-Oncogénicas p21(ras)
/
Nevo
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Australas J Dermatol
Año:
2017
Tipo del documento:
Article