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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Autism Spectrum Disorder*
  • Autistic Disorder*
  • Crows*
  • Hair / pathology
  • Humans
  • Infant, Newborn
  • Mutation
  • Nevus* / pathology
  • Nevus, Sebaceous of Jadassohn*
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics

Substances

  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2

Supplementary concepts

  • Epidermal Nevus