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

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

Philippe Buisson  1 , Marc-David Leclair, Sébastien Jacquemont, Guillaume Podevin, Caroline Camby, Albert David, Yves Heloury
Affiliations

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

Philippe Buisson et al. J Pediatr Surg. 2006 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.

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