Document Detail


Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene.
MedLine Citation:
PMID:  23448340     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Acanthosis nigricans (AN) is characterized by non-inflamed, thick, brown-black pigmentation of the epidermis of the neck, dorsal hands and feet, axilla, umbilicus, knees, and elbows. It has been reported in both inherited as well as acquired forms (e.g., as a paraneoplastic syndrome). Most cases of AN have been described in association with insulin resistance syndromes and fibroblast growth factor receptor (FGFR) mutations. However, it also occurs as a symptom of diverse syndromes, including leprechaunism, Rabson-Mendenhall syndrome, and thanatophoric dysplasia.
Authors:
S Ahmad; H Mahmoudi; M Naeem; R C Betz
Publication Detail:
Type:  LETTER     Date:  2013-2-28
Journal Detail:
Title:  The British journal of dermatology     Volume:  -     ISSN:  1365-2133     ISO Abbreviation:  Br. J. Dermatol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-3-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
©The Authors BJD © 2013 British Association of Dermatologists.
Affiliation:
Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan, 45320.
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