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Case Reports
. 2023 Mar;40(2):382-384.
doi: 10.1111/pde.15176. Epub 2022 Nov 14.

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

Inés Gracia-Darder  1 , Ana Llull Ramos  1 , Aniza Giacaman  1 , Cristina Gómez Bellvert  2 , Antonia Obrador-Hevia  3 , Elisabeth Jubert Esteve  4 , Ana Martín-Santiago  1
Affiliations
Case Reports

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

Inés Gracia-Darder et al. Pediatr Dermatol. 2023 Mar.

Abstract

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.

Keywords: genetic diseases/mechanisms; hamartomas.

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References

REFERENCES

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