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Tri-filial presentation of familial tuberous sclerosis with renal tumors
Joint Authors
Ghoshal, Sushil R.
Chatterjee, Shankar D.
Ray, Saugata
Chakraborty, Swarup
Achar, Arun
Pathak, T. K.
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 20, Issue 4 (31 Aug. 2009), pp.652-654, 3 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2009-08-31
Country of Publication
Saudi Arabia
No. of Pages
3
Main Subjects
Topics
Abstract EN
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.
American Psychological Association (APA)
Ghoshal, Sushil R.& Chatterjee, Shankar D.& Ray, Saugata& Chakraborty, Swarup& Achar, Arun& Pathak, T. K.. 2009. Tri-filial presentation of familial tuberous sclerosis with renal tumors. Saudi Journal of Kidney Diseases and Transplantation،Vol. 20, no. 4, pp.652-654.
https://search.emarefa.net/detail/BIM-37320
Modern Language Association (MLA)
Ghoshal, Sushil R.…[et al.]. Tri-filial presentation of familial tuberous sclerosis with renal tumors. Saudi Journal of Kidney Diseases and Transplantation Vol. 20, no. 4 (Dec. 2009), pp.652-654.
https://search.emarefa.net/detail/BIM-37320
American Medical Association (AMA)
Ghoshal, Sushil R.& Chatterjee, Shankar D.& Ray, Saugata& Chakraborty, Swarup& Achar, Arun& Pathak, T. K.. Tri-filial presentation of familial tuberous sclerosis with renal tumors. Saudi Journal of Kidney Diseases and Transplantation. 2009. Vol. 20, no. 4, pp.652-654.
https://search.emarefa.net/detail/BIM-37320
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 657
Record ID
BIM-37320