Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism.

Journal article

We report an activating fibroblast growth factor receptor 3 (FGFR3) mutation (R248C) occurring in a verrucous epidermal naevus, and not found in other tissues, in a girl with mild facial dysmorphism. We demonstrate the presence of the mutation in keratinocytes cultured from the naevus and we speculate that a low level of the mutation in other tissues may account for her facial dysmorphism. The possibility that the mutation is present in other tissues implies a possible risk to her future offspring.

Authors: Collin, B; Taylor, I; Wilkie, A; Moss, C

• Publication status: Published
• Journal: British journal of dermatology
• Volume: 156
• Issue: 6
• Pages: 1353-1356
• Publication date: 2007-06-01
• DOI: 10.1111/j.1365-2133.2007.07869.x
• EISSN: 1365-2133
• ISSN: 0007-0963
• Language: English
• Keywords: Receptor, Fibroblast Growth Factor, Type 3; Female; Child; Facial Asymmetry; Nevus, Pigmented; Humans; Craniosynostoses; Mosaicism