Article
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
The Journal of investigative dermatology - 1 Sept 2012
Easton Jennifer A, Donnelly Steven, Kamps Miriam A F, Steijlen Peter M, Martin Patricia E, Tadini Gianluca, Janssens René, Happle Rudolf, van Geel Michel, van Steensel Maurice A M
Abstract excerpt
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). The molecular cause...
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