Document Detail

Familial acanthosis nigricans due to K650T FGFR3 mutation.
MedLine Citation:
PMID:  17875876     Owner:  NLM     Status:  MEDLINE    
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.
David R Berk; Elaine B Spector; Susan J Bayliss
Related Documents :
20860806 - Novel association of severe neonatal encephalopathy and hirschsprung disease in a male ...
8135286 - Genetic syndromes and uniparental disomy: a study of 16 cases of brachmann-de lange syn...
14963686 - Muenke syndrome.
16927106 - Wt1 and glomerular diseases.
17606066 - Muscle atrophy at diagnosis of carpal and cubital tunnel syndrome.
9451196 - Soft tissue problems associated with rheumatic disease.
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    
Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid, Campus Box 8123, St Louis, MO 63110, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Acanthosis Nigricans / genetics*,  pathology
African Continental Ancestry Group
Child, Preschool
Point Mutation*
Receptor, Fibroblast Growth Factor, Type 3 / genetics*
Reg. No./Substance:
EC, Fibroblast Growth Factor, Type 3
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

Previous Document:  Primary cutaneous diffuse large B-cell lymphoma, leg type: clinicopathologic features and prognostic...
Next Document:  Eczematoid graft-vs-host disease: a novel form of chronic cutaneous graft-vs-host disease and its re...