Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations


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 is, as yet, unknown. We have noted that PEN histopathology is shared by KID. The clinical appearance of PEN can resemble that of KID syndrome. Furthermore, a recent report of cutaneous mosaicism for a GJB2 mutation associated with KID describes linear hyperkeratotic skin lesions that might be consistent with PEN. From this, we hypothesized that PEN might be caused by Cx26 mutations associated with KID or similar gap junction disorders. Thus, we analyzed the GJB2 gene in skin samples from two patients referred with generalized PEN. In both, we found GJB2 mutations in the PEN lesions but not in unaffected skin or peripheral blood. One mutation was already known to cause the KID syndrome, and the other had not been previously associated with skin symptoms. We provide extensive functional data to support its pathogenicity. We conclude that PEN may be caused by mosaic GJB2 mutations.

DOI: 10.1038/jid.2012.143

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@inproceedings{Easton2012PorokeratoticEN, title={Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations}, author={Jennifer A Easton and Steven Donnelly and Miriam A F Kamps and Peter M Steijlen and Patricia E Martin and Gianluca Tadini and Ren{\'e} Janssens and Rudolf Happle and Michel van Geel and Maurice A M van Steensel}, booktitle={The Journal of investigative dermatology}, year={2012} }