Article
Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation.
Pediatric dermatology - 1 Mar 2023
Gracia-Darder Inés, Llull Ramos Ana, Giacaman Aniza, Gómez Bellvert Cristina, Obrador-Hevia Antonia, Jubert Esteve Elisabeth, Martín-Santiago Ana
Abstract excerpt
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 initially associated with fibroblast growth factor 3 (FGFR3) mutations, three cases of RAVEN have been identified with...
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