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.

Keywords: HRAS; RASopathy; Schimmelpenning-Feuerstein-Mims syndrome; naevus sebaceus.