Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors

Silvia Hernández, Agustí Toll, Eulàlia Baselga, Adriana Ribé, Javier Azua-Romeo, Ramon M. Pujol, Francisco X. Real

Research output: Contribution to journalArticleResearchpeer-review

35 Citations (Scopus)

Abstract

Epidermal nevi (EN) are benign lesions presenting at birth or in childhood. Based on the occurrence of fibroblast growth factor receptor 3 (FGFR3) mutations in seborrheic keratosis and urothelial carcinomas (UC), and the identification of two young patients with EN and UC, we hypothesized that mutations might occur in EN. The R248C mutation was found in 6/23 (26.1%) EN but it was absent from unaffected skin. In two patients with EN and UC, both lesions were FGFR3 wild type. Our findings indicate that: (1) FGFR3 mutations occur in mosaicism and can cause EN and (2) other genes are involved in EN. © 2007 The Society for Investigative Dermatology.
Original languageEnglish
Pages (from-to)1664-1666
JournalJournal of Investigative Dermatology
Volume127
Issue number7
DOIs
Publication statusPublished - 1 Jul 2007

Fingerprint Dive into the research topics of 'Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors'. Together they form a unique fingerprint.

Cite this