Literature DB >> 16952599

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

Philippe Buisson1, Marc-David Leclair, Sébastien Jacquemont, Guillaume Podevin, Caroline Camby, Albert David, Yves Heloury.   

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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Year:  2006        PMID: 16952599     DOI: 10.1016/j.jpedsurg.2006.05.013

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN: 0022-3468            Impact factor:   2.545


  2 in total

1.  Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report.

Authors:  Sun Hwa Lee; Eell Ryoo; Hann Tchah
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2017-03-27

Review 2.  Human adipose dynamics and metabolic health.

Authors:  Bin Feng; Tracy Zhang; Haiyan Xu
Journal:  Ann N Y Acad Sci       Date:  2013-01-14       Impact factor: 5.691

  2 in total

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