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Case Reports
Journal Article
Review
Cutaneous features of Crouzon syndrome with acanthosis nigricans.
JAMA Dermatology 2013 June
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, early-onset 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.
OBSERVATIONS: We report 6 cases and summarize the existing literature with regard to the cutaneous manifestations of this disorder. All patients have widespread, early-onset 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.
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