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

A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initiall...

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Veröffentlicht in:	Pediatric dermatology 2023-03, Vol.40 (2), p.382-384
Hauptverfasser:	Gracia‐Darder, Inés, Llull Ramos, Ana, Giacaman, Aniza, Gómez Bellvert, Cristina, Obrador‐Hevia, Antonia, Jubert Esteve, Elisabeth, Martín‐Santiago, Ana
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Autism Autism Spectrum Disorder Autistic Disorder Case reports Coloration Crows Fibroblast growth factor 3 Fibroblast growth factor receptor 2 Fibroblast growth factor receptors genetic diseases/mechanisms Hair Hair - pathology hamartomas Humans Infant, Newborn Mutation Nevus Nevus - pathology Nevus, Sebaceous of Jadassohn Receptor, Fibroblast Growth Factor, Type 2 - genetics
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