To describe the 22nd case of Crouzan syndrome with acanthosis nigricans, a hyperkeratotic skin disorder with hyperpigmentation.
DNA analysis and sequencing of the FGFR3 gene were performed.
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.
Crouzon syndrome with acanthosis nigricans is a distinct clinical entity different from classic Crouzon syndrome.