David R Berk1, Elaine B Spector, Susan J Bayliss. 1. Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid, Campus Box 8123, St Louis, MO 63110, USA. DBerk@im.wustl.edu
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.
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.
Authors: James T Bennett; Tiong Yang Tan; Diana Alcantara; Martine Tétrault; Andrew E Timms; Dana Jensen; Sarah Collins; Malgorzata J M Nowaczyk; Marjorie J Lindhurst; Katherine M Christensen; Stephen R Braddock; Heather Brandling-Bennett; Raoul C M Hennekam; Brian Chung; Anna Lehman; John Su; SuYuen Ng; David J Amor; Jacek Majewski; Les G Biesecker; Kym M Boycott; William B Dobyns; Mark O'Driscoll; Ute Moog; Laura M McDonell Journal: Am J Hum Genet Date: 2016-03-03 Impact factor: 11.025
Authors: Elizabeth Isaacoff; Filippina Filia Dimitriadi; Frank Barrows; Bruce Pawel; Peter Mattei; Sogol Mostoufi-Moab Journal: Case Rep Endocrinol Date: 2013-05-30