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Observation
September 2007

Familial Acanthosis Nigricans Due to K650T FGFR3 Mutation

Author Affiliations

Author Affiliations: Department of Internal Medicine, Division of Dermatology, and Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri (Drs Berk and Bayliss); and DNA Diagnostic Laboratory and Department of Pediatrics, University of Colorado at Denver and Health and Sciences Center, Aurora (Dr Spector).

Arch Dermatol. 2007;143(9):1153-1156. doi:10.1001/archderm.143.9.1153
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.

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