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GENATLAS PHENOTYPE
last update : 09/09/2008
Symbol FENS
Location 4p16.3
Name FGFR3 epidermal nevus syndrome
Other name(s)
  • non-organoid, non-epidermolytic epidermal nevus
  • epidermal nevus syndrome with cerebral involvement
  • pigmented moles
    • Corresponding gene FGFR3
    Other symbol(s) ENCD, NONEEN
    Main clinical features
  • systematized epidermal nevus of the non-organoid, non-epidermolytic type
  • with/without associated anomalies depending on the tissues involved
  • SNC malformations, seizures and mental retardation may be present if brain is involved
    • Genetic determination other
    Function/system disorder neurology
    dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   over-expression activating mutation, R248C, found in the epidermal nevus and blood, but not in normal skin. K650T may represent an hypomorphic allele with only skin manifestations.
    Remark(s) germinal R248C mutation in the FGFR3 gene is responsible for thanatophoric dysplasia I.
    Genotype/Phenotype correlations R248C mutation mosaicism not involving the skeletal system is associated with a large spectrum of different skin disorders including syndromic acanthosis nigricans. R248 mutation mosaicism is present in 1/3 of NONEEN. Cerebral involment may be involved depending on the mosaicism extension.