Familial acanthosis nigricans due to K650T FGFR3 mutation
Familial acanthosis nigricans due to K650T FGFR3 mutation
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DOI：
10.1001/archderm.143.9.1153
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发表时间：
2007-09-01
影响因子：
--
通讯作者：
Bayliss, Susan J.
中科院分区：
文献类型：
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作者：
Berk, David R.;Spector, Elaine B.;Bayliss, Susan J.
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.
