title: Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.
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.
authors.affiliation: Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Buisson
authors.forename: Marc-David
authors.initials: MD
authors.lastname: Leclair
authors.forename: Sébastien
authors.initials: S
authors.lastname: Jacquemont
authors.forename: Guillaume
authors.initials: G
authors.lastname: Podevin
authors.forename: Caroline
authors.initials: C
authors.lastname: Camby
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Yves
authors.initials: Y
authors.lastname: Heloury
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008067:Lipoma / Q000235:genetics*; D008297:Male; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human