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HK J Paediatr (New Series)
Vol 22. No. 2,
2017
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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 Samsun Obstetric and Children's Hospital, Turkey
E Ozsu MD Necip Fazll City Hospital, Kahramanmara, Turkey
N Doğan MD Department of Dermatology, Kocaeli University School of Medicine, Turkey
AŞ Aktűrk MD Department of Pediatric Endocrinology, Kocaeli University School of Medicine, Turkey
Ş Hatun MD, Prof. Correspondence to: Dr E Ozsu Email: elozdr@gmail.com Received March 1, 2016
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. Keyword : Pigmentation; PTEN; Tumour
Abstract in Chinese
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