Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

URN to cite this document:: urn:nbn:de:bvb:355-epub-221412
DOI to cite this document:: 10.5283/epub.22141

Bygum, Anette

; Fagerberg, Christina R.

; Clemmensen, Ole J. ; Fiebig, Britta ; Hafner, Christian

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Date of publication of this fulltext: 26 Sep 2011 09:37

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Abstract

Background: Epidermal nevi (EN) represent benign congenital skin lesions following the lines of Blaschko. They result from genetic mosaicism, and activating FGFR3 and PIK3CA mutations have been implicated. Case presentation: We report a female patient with a systemic keratinocytic nevus also involving the oral mucosa. Molecular genetic analysis revealed a mosaicism of the FGFR3 hotspot mutation ...