4 doctors weighed in:

My son may have tuberous sclerosis. What is it and how did it get there?

4 doctors weighed in
Dr. James Ferguson
Pediatrics
2 doctors agree

In brief: TS a genetic afflctn

Ts is one of several syndromes where skin findings point to other possible defects.
It can be inherited as a dominant trait from a parent with the disorder (recognized or not) or occur as a new mutation (very common). The mutation causes the signals in the dna to create abnormalities in the skin or organs. Tubors are fleshy growths that can show up in the brain or organs & cause pbs.

In brief: TS a genetic afflctn

Ts is one of several syndromes where skin findings point to other possible defects.
It can be inherited as a dominant trait from a parent with the disorder (recognized or not) or occur as a new mutation (very common). The mutation causes the signals in the dna to create abnormalities in the skin or organs. Tubors are fleshy growths that can show up in the brain or organs & cause pbs.
Dr. James Ferguson
Dr. James Ferguson
Thank
Dr. Johanna Fricke
Pediatrics - Developmental & Behavioral

In brief: Genetic mutations

Tuberous sclerosis complex is caused by mutations in the ts1 gene on chromosome 16 and the ts2 gene on chrosome 9.
Only one of these has to be affected to have symptoms. Symptoms and their severity vary, even within a family. If a parent has tsc, each of his childen has a 50% chance of having it. Spontaneous mutations also occur. See http://www.Tsalliance.Org for comprehensive information.

In brief: Genetic mutations

Tuberous sclerosis complex is caused by mutations in the ts1 gene on chromosome 16 and the ts2 gene on chrosome 9.
Only one of these has to be affected to have symptoms. Symptoms and their severity vary, even within a family. If a parent has tsc, each of his childen has a 50% chance of having it. Spontaneous mutations also occur. See http://www.Tsalliance.Org for comprehensive information.
Dr. Johanna Fricke
Dr. Johanna Fricke
Thank
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