Document Detail


Familial acanthosis nigricans due to K650T FGFR3 mutation.
MedLine Citation:
PMID:  17875876     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
David R Berk; Elaine B Spector; Susan J Bayliss
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of dermatology     Volume:  143     ISSN:  0003-987X     ISO Abbreviation:  Arch Dermatol     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-09-18     Completed Date:  2007-11-05     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0372433     Medline TA:  Arch Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1153-6     Citation Subset:  AIM; IM    
Affiliation:
Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid, Campus Box 8123, St Louis, MO 63110, USA. DBerk@im.wustl.edu
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MeSH Terms
Descriptor/Qualifier:
Acanthosis Nigricans / genetics*,  pathology
Adult
African Continental Ancestry Group
Child
Child, Preschool
Female
Humans
Pedigree
Point Mutation*
Receptor, Fibroblast Growth Factor, Type 3 / genetics*
Chemical
Reg. No./Substance:
EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3
Comments/Corrections
Comment In:
Arch Dermatol. 2007 Sep;143(9):1194-6   [PMID:  17875886 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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