Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome

    December 2014 in “ Annals of Laboratory Medicine ”
    Sung Woo Kim, Ju Sun Song, Mi Seon Kang, Jong Beom Sin, Chang‐Seok Ki, Ga Won Jeon
    TLDR A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
    This study reported the first genetically confirmed case of nevus sebaceus syndrome in Korea, involving a female infant with a somatic KRAS mutation (c.35G>A; p.Gly12Asp) identified in a cutaneous lesion. Nevus sebaceus is a benign skin disorder often present at birth, characterized by alopecic plaques, and is associated with somatic mutations in HRAS and KRAS genes. The infant exhibited extracutaneous manifestations, including ocular and central nervous system involvement, consistent with nevus sebaceus syndrome. The study highlighted the importance of monitoring for potential secondary tumors due to the presence of these mutations.
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