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

This report describes a child born with a rare skin condition called RAVEN (patches of thick, velvety skin) caused by a genetic mutation in the FGFR2 gene. By age 2, the child also developed different colored hair patches and was diagnosed with autism. This adds to a small number of similar cases suggesting a possible connection between certain genetic skin conditions and autism.

This case report describes a newborn with extensive rounded and velvety epidermal nevus (RAVEN) caused by a heterozygous FGFR2 mutation (p.Cys382Arg). By age 2, the child developed hair heterochromia and autism spectrum disorder. While RAVEN was previously associated with FGFR3 mutations, this case adds to emerging evidence linking FGFR2 mutations to RAVEN. The authors note three other RAVEN cases with different FGFR2 mutations and one case of linear keratinocytic epidermal nevi with the same mutation as their patient, supporting the pathogenic role of FGFR2 mutations in these skin conditions and their potential association with autism.

Suggests need for developmental monitoring in children with RAVEN caused by FGFR2 mutations. May inform genetic counseling for families. Contributes to understanding of genetic factors that may influence both skin development and neurodevelopment, though causal relationship remains unclear.

Single case report with no sample size reported. Cannot establish causation between FGFR2 mutation and autism. No control group or systematic follow-up data provided.

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 mutations in FGFR2 (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations.