Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation
Résumé
Fibroblast growth factor receptor 3 epidermal naevus syndrome (FGFR3-ENS), also known as Garcia-HafnerHapple syndrome, is a rare and distinctive epidermal naevus (EN) syndrome, clinically characterized by a systematized keratinocytic EN of soft and velvety type, with inconstant cerebral and skeletal involvement (1). We report here a new case of FGFR3-ENS with the postzygotic FGFR3 p.Ser249Cys mutation detected in both affected skin and urothelial cells
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