Document Detail


AEC syndrome caused by a novel p63 mutation and demonstrating erythroderma followed by extensive depigmentation.
MedLine Citation:
PMID:  19840326     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present an infant with AEC syndrome due to a novel TP63 mutation (F552S), who demonstrated neonatal erythroderma followed by extensive depigmentation. We are unaware of previous reports highlighting the extensive depigmentation present in our patient.
Authors:
David R Berk; Kimberly Crone; Susan J Bayliss
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  26     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2009 Sep-Oct
Date Detail:
Created Date:  2009-10-20     Completed Date:  2010-01-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  617-8     Citation Subset:  IM    
Affiliation:
Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri 63110, USA. dberk@im.wustl.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Cleft Palate / genetics
Dermatitis, Exfoliative / genetics*
Ectodermal Dysplasia / genetics*
Female
Humans
Hypopigmentation / genetics*
Infant, Newborn
Point Mutation
Syndrome
Trans-Activators / genetics*
Tumor Suppressor Proteins / genetics*
Chemical
Reg. No./Substance:
0/TP63 protein, human; 0/Trans-Activators; 0/Tumor Suppressor Proteins

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


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