Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome
Journal of Pediatric Surgery
Journal Article --- Old month value: Sep
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.
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
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