Cutaneous features of crouzon syndrome with acanthosis nigricans

摘要

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, earlyonset 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.