Document Detail


Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.
MedLine Citation:
PMID:  16952599     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cutaneous lipoma is rare in children, but it can be part of a syndrome such as the Bannayan-Riley-Ruvalcaba syndrome (BRRS). The BRRS is a dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay associated with PTEN gene mutations. This syndrome is thought to represent a pediatric form of the Cowden syndrome, characterized among other features by an increased risk of cancer. We report 5 cases of BRRS, all diagnosed in children with lipoma and macrocephaly. Children presenting with lipomas need a complete physical examination to look for other signs of BRRS, because they may need further follow-up for tumor screening in adulthood.
Authors:
Philippe Buisson; Marc-David Leclair; Sébastien Jacquemont; Guillaume Podevin; Caroline Camby; Albert David; Yves Heloury
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric surgery     Volume:  41     ISSN:  1531-5037     ISO Abbreviation:  J. Pediatr. Surg.     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-09-05     Completed Date:  2006-09-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0052631     Medline TA:  J Pediatr Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1601-3     Citation Subset:  IM    
Affiliation:
Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Child
Child, Preschool
Female
Hamartoma Syndrome, Multiple / complications*,  diagnosis*,  genetics,  metabolism
Humans
Lipoma / genetics*
Male
Mutation
PTEN Phosphohydrolase / genetics*
Skin Neoplasms / genetics*
Syndrome
Chemical
Reg. No./Substance:
EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase

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


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