Crouzon syndrome with acanthosis nigricans: case report and mutational analysis.
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.
Nagase
T
T
Department of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Japan. nagase@ncnp.go.jp
Nagase
M
M
Hirose
S
S
Ohmori
K
K
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
D005346:Fibroblast Growth Factors