Familial acanthosis nigricans due to K650T FGFR3 mutation

David R. Berk, Elaine B. Spector, Susan J. Bayliss

Research output: Contribution to journalArticle

47 Scopus citations

Abstract

Background: Acanthosis nigricans is a feature of several syndromes caused by activating mutations of the fibroblast growth factor receptor 3 gene (FGFR3), including Crouzon syndrome with acanthosis nigricans, thanatophoric dysplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN syndrome). Observations: We describe a healthy 4-year-old African American girl with generalized acanthosis nigricans since infancy. Her father had a history of acanthosis nigricans since childhood, in addition to Crohn disease, obesity, and adult-onset diabetes mellitus. A pedigree with numerous affected family members was constructed. Other than slightly short stature, no associated anomalies were found, including dysmorphic features or skeletal or neurologic defects. Genetic testing revealed a previously undescribed, heterozygous lysine to threonine mutation at codon 650 of the FGFR3 gene in the 4 affected family members who were tested. Conclusion: Extensive acanthosis nigricans in early childhood, especially with a family history of acanthosis nigricans, may warrant testing for FGFR3 mutations.

Original languageEnglish
Pages (from-to)1153-1156
Number of pages4
JournalArchives of dermatology
Volume143
Issue number9
DOIs
StatePublished - Sep 1 2007

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