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

J Pediatr Surg. 2006 Sep;41(9):1601-3. doi: 10.1016/j.jpedsurg.2006.05.013.

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.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Child, Preschool
  • Female
  • Hamartoma Syndrome, Multiple / complications*
  • Hamartoma Syndrome, Multiple / diagnosis*
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / metabolism
  • Humans
  • Lipoma / genetics*
  • Male
  • Mutation
  • PTEN Phosphohydrolase / genetics*
  • Skin Neoplasms / genetics*
  • Syndrome

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human