Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome

Hizarcioglu-Gulsen H., KILIÇ E., Dominguez-Garrido E., Aydemir Y., ÜTİNE G. E., Saltik-Temizel I. N.

TURKISH JOURNAL OF PEDIATRICS, vol.59, no.1, pp.80-83, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.01.014
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.80-83
  • Keywords: Bannayan-Riley-Ruvalcaba syndrome, PTEN, polyposis, HAMARTOMA TUMOR SYNDROMES, PTEN MUTATION, SPECTRUM
  • Eskisehir Osmangazi University Affiliated: Yes


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The mutation of the PTEN gene that is responsible for controlling cellular proliferation, migration and apoptosis clarifies the reason of tissue overgrowth in BRRS. Gastrointestinal tract involvement is seen 35-45% of the patients. Histologic features of polyps in BRRS resemble juvenile polyps. In this report, we describe a boy presenting with hematochezia and aggressive polyposis and finally was diagnosed as BRRS due to extra intestinal findings.