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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… Click to show full 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.
Keywords:
naevus sebaceus;
mutation hras;
post zygotic;
sebaceus
Journal Title: Australasian Journal of Dermatology
Year Published: 2017
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Journal Title: Australasian Journal of Dermatology
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!