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

doi:10.1038/jid.2012.143

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

Biological and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

60 Citations (Scopus)

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 language	English
Pages (from-to)	2184-2191
Number of pages	8
Journal	Journal of Investigative Dermatology
Volume	132
Early online date	17 May 2012
DOIs	https://doi.org/10.1038/jid.2012.143
Publication status	Published - 2012

Keywords

epidermal nevus
connexin26
genetic mutations

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10.1038/jid.2012.143

Cite this

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title = "Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations",

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). ",

keywords = "epidermal nevus, connexin26, genetic mutations",

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

year = "2012",

doi = "10.1038/jid.2012.143",

language = "English",

volume = "132",

pages = "2184--2191",

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T1 - Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations

AU - Easton, Jennifer A.

AU - Donnelly, Steven

AU - Kamps, Miriam A.F.

AU - Steijlen, Peter M.

AU - Martin, Patricia E.

AU - Tadini, Gianluca

AU - Janssens, Rene

AU - Happle, Rudolf

AU - van Geel, Michel

AU - van Steensel, Maurice A.M.

PY - 2012

Y1 - 2012

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AB - 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).

KW - epidermal nevus

KW - connexin26

KW - genetic mutations

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U2 - 10.1038/jid.2012.143

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SN - 1523-1747

VL - 132

SP - 2184

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JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

ER -

Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations

Abstract

Keywords

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