Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome

Détails

ID Serval
serval:BIB_FEB26E183C18
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome
Périodique
Journal of Pediatric Surgery
Auteur⸱e⸱s
Buisson  P., Leclair  M. D., Jacquemont  S., Podevin  G., Camby  C., David  A., Heloury  Y.
ISSN
1531-5037
Statut éditorial
Publié
Date de publication
09/2006
Peer-reviewed
Oui
Volume
41
Numéro
9
Pages
1601-3
Notes
Journal Article --- Old month value: Sep
Résumé
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.
Mots-clé
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
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 17:29
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