Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis

Cleft Palate Craniofac J. 2018 Feb;55(2):296-300. doi: 10.1177/1055665617723918. Epub 2017 Dec 14.

Abstract

Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided.

Keywords: Crouzon with acanthosis nigricans; FGFR3; cemento-ossifying fibroma.

Publication types

  • Case Reports

MeSH terms

  • Acanthosis Nigricans / congenital
  • Acanthosis Nigricans / diagnosis*
  • Acanthosis Nigricans / genetics
  • Craniofacial Dysostosis / diagnosis*
  • Craniofacial Dysostosis / genetics
  • Craniofacial Dysostosis / therapy
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant, Newborn
  • Jaw Neoplasms / congenital
  • Jaw Neoplasms / diagnosis*
  • Jaw Neoplasms / genetics
  • Jaw Neoplasms / surgery
  • Male