A Rare Cause of Glans Penis Pigmentation: Bannayan-Riley-Ruvalcaba Syndrome


Ozsu E., Dogan N., Akturk A. , Hatun S.

HONG KONG JOURNAL OF PAEDIATRICS, vol.22, pp.113-116, 2017 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 2
  • Publication Date: 2017
  • Title of Journal : HONG KONG JOURNAL OF PAEDIATRICS
  • Page Numbers: pp.113-116

Abstract

Bannayan-Riley-Ruvalcaba syndrome is a rare condition caused by mutation in the PTEN gene. It can cause pigmentation defects, hamartoma and behavioural abnormalities. We report the case of a 10-year-old boy with short stature, pigmented maculae on the glans penis, obsessive-compulsive disorder and macrocephaly. The case is presented due to the rarity of the condition and its predisposition to tumour formation.