• Vol. 39 No. 7, 578–579
  • 15 July 2010

Bannayan Riley Ruvalcaba Syndrome



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Bannayan-Riley-Ruvalcaba syndrome (BRRS) classically presents with macrocephaly, subcutaneous and visceral lipomata, haemangiomata, hamartomatous intestinal polyps and pigmented macules involving the genitalia. This autosomal dominant disorder is linked to germline mutations of the phosphatase and tensine homologue gene (PTEN), a tumour suppressor gene which has a significant role in the molecular pathway of cellular proliferation, migration and apoptosis.

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