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, no.2, pp.113-116, 2017 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 2
  • Publication Date: 2017
  • Journal Name: HONG KONG JOURNAL OF PAEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.113-116
  • Kocaeli University Affiliated: Yes

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.