Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome
Details
Serval ID
serval:BIB_FEB26E183C18
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome
Journal
Journal of Pediatric Surgery
ISSN
1531-5037
Publication state
Published
Issued date
09/2006
Peer-reviewed
Oui
Volume
41
Number
9
Pages
1601-3
Notes
Journal Article --- Old month value: Sep
Abstract
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.
Keywords
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
Pubmed
Web of science
Create date
28/02/2008 11:42
Last modification date
20/08/2019 17:29