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A Case Report of Tuberous Sclerosis in Two Generations.

Chandrakala Chandrakala, Sharanagouda Patil, Kalthur Guruprasad

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Abstract

Tuberous sclerosis complex [TSC] is a genetic multisystem disorder characterised by the growth of numerous hamartomas in several organs including the brain, heart, skin, eyes, kidney, lung and liver. The affected genes are TSC1 and TSC2 encoding hamartin and tuberin respectively. TSC has a wide range of severity and some people with this condition will only be mildly affected. At present it is impossible to accurately predict who will remain only mildly affected and who will be more severely affected by TSC. Even members of the same family can be affected differently. Many family members show signs of being carriers of the genes for the disease when carefully examined. This article reports a family with documented Tuberous sclerosis in two generations involving three members which is a rare entity.

About this research paper

What this paper is about

Tuberous sclerosis complex [TSC] is a genetic multisystem disorder characterised by the growth of numerous hamartomas in several organs including the brain, heart, skin, eyes, kidney, lung and liver. The affected genes are TSC1 and TSC2 encoding hamartin and tuberin respectively. TSC has a wide range of severity and some people with this condition will only be mildly affected. At present it is impossible to accurately predict who will remain only mildly affected and who will be more severely affected by TSC. Even members of the same family can be affected differently. Many family members show signs of being carriers of the genes for the disease when carefully examined. This article reports a family with documented Tuberous sclerosis in two generations involving three members which is a rare entity.

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Available abstract

Tuberous sclerosis complex [TSC] is a genetic multisystem disorder characterised by the growth of numerous hamartomas in several organs including the brain, heart, skin, eyes, kidney, lung and liver. The affected genes are TSC1 and TSC2 encoding hamartin and tuberin respectively. TSC has a wide range of severity and some people with this condition will only be mildly affected. At present it is impossible to accurately predict who will remain only mildly affected and who will be more severely affected by TSC. Even members of the same family can be affected differently. Many family members show signs of being carriers of the genes for the disease when carefully examined. This article reports a family with documented Tuberous sclerosis in two generations involving three members which is a rare entity.

Key concepts: Tuberous sclerosis, TSC2, TSC1, Medicine, Genetic disorder, Gene, Disease, Pathology

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