结节性硬化症合并Piebaldism的孤立性肾多灶上皮样血管平滑肌脂肪瘤导致肾功能障碍1例

Rohit Sanjay Deshpande, Uttam Kumar Mete
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引用次数: 0

摘要

一位19岁的男士到门诊就诊,主诉为右腰肿物,自过去1年以来肿物不断增大,发病时有隐蔽性,引起右腰疼痛、不适、早期饱腹感、体重减轻和食欲不振。患者自幼为结节性硬化症合并斑疹病的已知病例,其相关临床特征为躯干灰叶斑、视网膜错构瘤伴复发性口内毁容错构瘤(经组织病理学证实为棘皮病伴角化过度)。
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Isolated Renal Multifocal Epithelioid Angiomyolipoma Leading to Non-Functioning Kidney in a Case of Tuberous Sclerosis Complex with Piebaldism
A 19-year-old gentleman presented to the outpatient department with chief complaint of a right loin mass which had been increasing in size since the past 1 year and had been insidious in onset, causing right loin pain, discomfort, early satiety, along with loss of weight and loss of appetite. Patient was a known case of tuberous sclerosis complex with piebaldism since childhood and had related clinical features like Ash-leaf macules on the trunk, retinal hamartomas along with a recurrent intra-oral disfiguring hamartoma (histopathologically proven acanthosis with hyperkeratosis).
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