Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis

Lihi Atzmony, Keith A. Choate*

*Corresponding author for this work

Research output: Contribution to journalComment/debate


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.

Original languageEnglish
Pages (from-to)2409-2411
Number of pages3
JournalJournal of Investigative Dermatology
Issue number12
StatePublished - Dec 2019


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