Cutaneous features of Crouzon syndrome with acanthosis nigricans

JAMA Dermatol. 2013 Jun;149(6):737-41. doi: 10.1001/jamadermatol.2013.3019.

Abstract

Importance: Crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. Other cutaneous findings have not been thoroughly described.

Observations: We report 6 cases and summarize the existing literature with regard to the cutaneous manifestations of this disorder. All patients have widespread, early-onset acanthosis nigricans. Patients often have prominent hypopigmented scars at surgical sites and nevi arising early in childhood.

Conclusions and relevance: In addition to craniofacial malformations, Crouzon syndrome with acanthosis nigricans results in characteristic cutaneous findings.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acanthosis Nigricans / pathology*
  • Adolescent
  • Child
  • Child, Preschool
  • Cicatrix / etiology*
  • Craniofacial Dysostosis / pathology*
  • Female
  • Humans
  • Hypopigmentation / etiology*
  • Male
  • Mutation
  • Nevus / pathology
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

  • Crouzon Syndrome With Acanthosis Nigricans