首页> 外文期刊>Hong Kong Journal of Paediatrics >A Rare Cause of Glans Penis Pigmentation: Bannayan-Riley-Ruvalcaba Syndrome
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A Rare Cause of Glans Penis Pigmentation: Bannayan-Riley-Ruvalcaba Syndrome

机译:龟头阴茎色素沉着的罕见原因:Bannayan-Riley-Ruvalcaba综合征

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Bannayan-Riley-Ruvalcaba syndrome is a rare condition caused by mutation in the PTEN gene. It cancause pigmentation defects, hamartoma and behavioural abnormalities. We report the case of a 10-yearoldboy with short stature, pigmented maculae on the glans penis, obsessive-compulsive disorder andmacrocephaly. The case is presented due to the rarity of the condition and its predisposition to tumourformation.
机译:Bannayan-Riley-Ruvalcaba综合征是由PTEN基因突变引起的罕见病。它可能导致色素沉着缺陷,错构瘤和行为异常。我们报道了一个10岁男孩,身材矮小,龟头阴茎上有色素性黄斑,强迫症和大头畸形的情况。提出该病例是由于该疾病的罕见性及其对肿瘤形成的易感性。

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