Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation

• DOI: 10.1111/pde.15176
• Publication Date: 2022-11-15T02:21:37Z
• Authors: Inés Gracia‐Darder; Ana Llull Ramos; Aniza Giacaman; Cristina Gómez Be...; Antonia Obrador‐H...; Elisabeth Jubert ...; Ana Martín‐Santiago
• Keywords: Crows; Autism Spectrum Disorder; Infant, Newborn; Nevus, Sebaceous of Jadassohn; 03 medical and health sciences; 0302 clinical medicine; Mutation; Animals; Humans; Autistic Disorder; Receptor, Fibroblast Growth Factor, Type 2; Nevus; Hair

Abstract A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) a genetic study of the cutaneous lesions revealing heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years age, patient developed hair heterochromia autism spectrum disorder. Although RAVEN was initially associated fibroblast growth factor 3 ( FGFR3 ) mutations, three cases have been identified mutations (p.Ser252Trp) one case linear keratinocytic nevi has same as our patient. This strongly supports pathogenic role these mutations.