Observations show phenotype changes due to KRAS mutation in naevus sebaceous syndrome, suggesting broader RAS pathway implications.
Introduction: Naevus sebaceous syndrome (NSS), or Schimmelpenning syndrome, is a phakomatosis caused by somatic mosaicism in genes within the RAS pathway. Previously characterised as a sebaceous naevus associated with neurological, skeletal, or ocular abnormalities, it is increasingly recognised as part of a spectrum with other RASopathies, including phakomatosis spilosebacea and keratinocytic epidermal naevi, with phenotype determined by the degree of mosaicism. We present the first Australian case of NSS caused by a KRAS mutation.
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