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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2009  |  Volume : 20  |  Issue : 4  |  Page : 652-654
Tri-filial presentation of familial tuberous sclerosis with renal tumors


1 Department of General Surgery, Midnapore Medical College and Hospital, Midnapore, West Bengal, India
2 Department of Dermatology, Midnapore Medical College and Hospital, Midnapore, West Bengal, India
3 Department of Pathology, Midnapore Medical College and Hospital, Midnapore, West Bengal, India

Correspondence Address:
Swarup Chakraborty
Department of General Surgery, Midnapore Medical College & Hospital, Midnapore 721001, West Bengal
India
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PMID: 19587510

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Tuberous sclerosis is a rare neuro-cutaneous syndrome with autosomal dominant penetrance. Only some organs are involved, e.g., skin (earthy skin thickenings, ash leaf patches), cerebral cortex (hamartomatous nodules) and kidneys, (angiolipoma, adenocarcinoma). These hamar­tomatous swellings resemble potatoes and hence, referred to as tubers. We herein report on three patients (all familial), father, son and granddaughter, with this rare involvement, from the eastern part of India. The father and son had involvement of only the skin (i.e. nose) and kidneys while the disease penetrated further in the subsequent filial generations with son and granddaughter having skin, brain and bilateral kidney involvement. This kind of tri-filial progression has not till date, been reported from this region, making it an interesting case presentation.


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