Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations

Jennifer A. Easton, Steven Donnelly, Miriam A.F. Kamps, Peter M. Steijlen, Patricia E. Martin, Gianluca Tadini, Rene Janssens, Rudolf Happle, Michel van Geel, Maurice A.M. van Steensel

Research output: Contribution to journalArticle

Abstract

Porokeratotic eccrine ostial and dermal duct nevus, or porokeratotic eccrine nevus (PEN), is a hyperkeratotic epidermal nevus. Several cases of widespread involvement have been reported, including one in association with the keratitis–ichthyosis–deafness (KID) syndrome (OMIM #148210), a rare disorder caused by mutations in the GJB2 gene coding for the gap junction protein connexin26 (Cx26).
Original languageEnglish
Pages (from-to)2184-2191
Number of pages8
JournalJournal of Investigative Dermatology
Volume132
Early online date17 May 2012
DOIs
Publication statusPublished - 2012

Keywords

  • epidermal nevus
  • connexin26
  • genetic mutations

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