Where does tuberous sclerosis occur? How is it treated?

Tuberous sclerosis. This condition may affect the skin, brain, kidneys and the heart. It is a genetic condition. It arises from the DNA. Medicines are used to treat seizures, if they occur, and sometimes surgery and laser treatments are used to remove tumors in the skin or in other locations.

Related Questions

What causes tuberous sclerosis?

Gene mutation. Ts is caused by a gene mutation.You can acquire it from a parent or get it as a new mutation, but the mutation effects every cell in the body. It can be very mild. I knew a college grad who adopted rather than risk passing it & she just had a bit of skin findings. I have treated many who had the soft tumors come up in the brain, kidneys etc. With many pbs. Read more...
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. Read more...
Genetic mutations. These people have a genetic mutation at one of two loci TSC1 or TSC2 (hamartin and tuberin). A second mutation in a particular cell results in creation of a tumor. No two TS patients are alike and the severity of the illness varies tremendously. It's not curable, but it's often manageable. Best wishes. Read more...

What are the tests for tuberous sclerosis?

Suspicion/ testing. A trained observer will often see the early skin changes of ts in early infancy. A ct scan and or other studies will often confirm the presence of "tubers", a soft fatty tissue growth that can show up in the brain and other organs. As these kids age, management is often focused on controlling seizures & monitoring the major organs for tuber emergence ( some could require removal). Read more...
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. Read more...

What are the symptoms of tuberous sclerosis?

Early vs Late. This condition is often first suspected when several skin patches appear with diminished pigment in the shape of an ash leaf on arms, legs, trunk. Over time other skin & internal changes occur. Soft "tubers" or growths can show up in the brain or organs.The disease is quite variable.I know one normal mom who adopted rather than risk passing it (had some skin stuff) & many profoundly impaired. Read more...
TUBEROUS SCLEROSIS. Sx are mental retardation, epilepsy, learning disorder, behavioral problems and cardiac, renal, cranial manifestations.Cutaneous findings are shagreen patches, neurofibromatosis, cafe-au-lait spots and tumors. Read more...

Is tuberous sclerosis physically limmiting?

Depends on severity. It is more appropriately known as tuberous sclerosis complex because it is highly varied in presentations..From simple skin lesions to complex neurological (brain/spinal cord), hearing/vision involvements causing severe disabilties. Complicated cases will require multispecialties care ...Very complicated.. Read more...
Sometimes. If the lung lesions cause shortness of breath, or the brain lesions interfere with movement, it can be crippling. Many TS patients have few or no problems. Read more...

What symptoms does tuberous sclerosis manifest?

Small tumors. Ts is a genetic disease that causes small tumors to grow in various places in the body. Tumors can grow in the heart, eyes, brain, kidneys, as well as on the face and skin. Brain tumors will cause seizures, retardation, and hydrocephalus. Kidney tumors can cause kidney failure. Heart tumors can be present even at birth. New medication now available may shrink these tumors. Read more...

What are visible symptoms of tuberous sclerosis?

Early vs Late. This condition is often first suspected when several skin patches appear with diminished pigment in the shape of an ash leaf on arms, legs, trunk. Over time the skin near the nose is populated with small pimply looking lesions called adenoma sebaceum.Thickened skin areas called shagreen patches are common on the back. Read more...

What do people do when they have tuberous sclerosis?

Depends. Ts can vary from mild to major.I know one college educated female who's dermatologist decided to confirm her ts by biopsy when she married to give her a chance to know her risks, she has had a wonderful life but chose to adopt.I have dxd several in childhood that had intermediate problems and a couple that have had major problems with seizures & mental deficiency. Only time will tell the outcome. Read more...

What are the symptoms of a child with tuberous sclerosis?

TUBEROUS SCLEROSIS. Dominantly inherited genetic disorder, affecting the eyes, heart, lungs, kidneys and skin.Child presents with mental retardation, epilepsy, learning and behavioral disorders. Skin sx are angiofibromas, shagreen patches, subcutaneous nodules and cafe-au-lait spots. Read more...