Table of Contents

HK J Paediatr (New Series)
Vol 22. No. 2, 2017

HK J Paediatr (New Series) 2017;22:113-116

Case Report

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

E Ozsu, N Doan, A Aktrk, Hatun


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.

Keyword : Pigmentation; PTEN; Tumour

Abstract in Chinese


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