Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis

J Invest Dermatol. 2019 Dec;139(12):2409-2411. doi: 10.1016/j.jid.2019.07.723.


Familial and sporadic porokeratosis are associated with germline heterozygous mutations in mevalonate pathway genes. Kubo et al. show that each skin lesion of disseminated superficial actinic porokeratosis originates from a postnatal keratinocyte clone with a different second-hit genetic event in the wild-type allele of the corresponding gene. They also confirm that linear porokeratosis derives from a single prenatal clone of keratinocytes with a second-hit genetic event.

Publication types

  • Comment

MeSH terms

  • Heterozygote
  • Humans
  • Keratinocytes
  • Mevalonic Acid
  • Porokeratosis*
  • Recombination, Genetic


  • Mevalonic Acid