title: Crouzon syndrome with acanthosis nigricans: case report and mutational analysis.
abstract: OBJECTIVE
  To describe the 22nd case of Crouzan syndrome with acanthosis nigricans, a hyperkeratotic skin disorder with hyperpigmentation.
  
  
  METHODS
  DNA analysis and sequencing of the FGFR3 gene were performed.
  
  
  RESULTS
  The 13-year-old Japanese boy described here also had dyspnea, facial palsy, sensorineural hearing loss, and skeletal and mental retardation. Examination of a skin biopsy specimen revealed the typical findings of acanthosis nigricans. Genetic analysis revealed the Ala391Glu mutation in one FGFR3 gene.
  
  
  CONCLUSIONS
  Crouzon syndrome with acanthosis nigricans is a distinct clinical entity different from classic Crouzon syndrome.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Japan. nagase@ncnp.go.jp
authors.forename: T
authors.initials: T
authors.lastname: Nagase
authors.forename: M
authors.initials: M
authors.lastname: Nagase
authors.forename: S
authors.initials: S
authors.lastname: Hirose
authors.forename: K
authors.initials: K
authors.lastname: Ohmori
mesh_terms: D000052:Acanthosis Nigricans / Q000150:complications / Q000235:genetics*; D003394:Craniofacial Dysostosis / Q000150:complications / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D005346:Fibroblast Growth Factors / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D019340:Osteotomy, Le Fort; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D005346:Fibroblast Growth Factors