Doctor insights on:
Tuberous Sclerosis In Children
Variable process: These kids get tubors, fleshy benign growths that can show up in a lot of places like the brain, heart, kidney etc. Thought they do not spread like cancer, they can interfere with normal organ function & trigger seizures. Ts can be very mild, I knew one mom who found out after college & chose to adopt rather than risk passing it on. Regular tests, ultrasound or ct can help avoid surprise complications. ...Read more
Protection: A helmet is used to protect the skull and brain in children with intellectual disability and autism who injure themselves by hitting their heads forcibly. It is also used in children who have seizures that are difficult to control, especially in a child who moves about quickly, climbs, or has other unsafe behavior. Both of these reasons certainly can occur in children with ts. ...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
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
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
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
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
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
Multi-organ: Eye, brain, skin.Get a more detailed answer ›
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. ...Read more
Genetic disorder: Tuberous sclerosis is a group of two genetic disorders that affect the skin, brain/nervous system, kidneys, and heart, and cause tumors to grow. The diseases are named after a tuber- or root-shaped growth in the brain. ...Read more
No one knows: Fatality rate is expected to be very low; just need to have a good monitoring by caring physicians. ...Read more
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. ...Read more
I will: Tuberous sclerosis is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease. ...Read more
What is the life of someone with tuberous sclerosis like? How can I help a loved one with this condition?
Hugely variable: Because the disease strikes random portions of the brain, different even in affected twins, no two people's experience with the disease is the same. Common sense and common kindness, assistance with the simple things in life, and helping the person be discerning about what interventions are likely to help and those that are not. Touch appropriately. Provide safety. ...Read more
No cure only help: Once a person has the ts gene they have its associated problems for life. They 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
Not curable: The disease is managed by surgery for the tumors as applicable, and medications. No two cases are alike. Ask about sirolimus if this question applies to a family member. Patients who wish to become parents will do well to learn how to prevent transmission of the illness to their children. Best wishes. ...Read more
No: Ts is a lifelong process with variable effect on the patients quality of life. I have known college graduates who had families with milder forms of the disease & others that were severely disabled. Treatment involves looking for problems before they become symptomatic and providing supportive care when they lead to trouble. ...Read more
No cure: It's a genetic disease. Only supportive treatment available, no cure. ...Read more
Skin lesions: 95% of people with ts have skin manifestations that can be very diverse. Lighter patches of skin that resemble an ash leaf, may be the 1st sign in babies. Other lesions may resemble acne and you see them around nose and cheeks. On back and neck you may find areas of skin that resemble an orange peel. Finger and toenails may have fleshy appearing growths under or around the nails. ...Read more
I have tuberous sclerosis and my bf has molluscum congiosum. How can I tell difference between mc and molluscum fibrosum on me if I have mc too?
Molluscum fibrosum: Molluscum fibrosum is usually present in pregnant women. The lesion is larger than m contagiosum and doughy feeling. ...Read more
Managed, not cured: Ts is a lifelong process whose treatment begins with recognition, education and monitoring through life. It can be quite mild with no long term effects, or be devastating. Related seizures & emergence of soft tissue "tubers" in the brain & major organs can create problems. Periodic ct scans & ultrasounds to monitor the organs are common. Coordinated efforts of local & specialty drs is a must. ...Read more
Can be: Molluscum pedulum are listed as one of many skin findings in ts. Rare in early childhood they show up in as many as 20% of adults. ...Read more
No: Ts is a genetic disorder that often arises from a new mutation. There are a variety of skin findings that can point to the diagnosis. It is the finding or "tubers" that can arise in the brain and other organs that can produce the most impairment in quality of life. It can be so mild that a college grad doesn't know they have it, or disabling by late childhood. ...Read more
I had (Salam) Infantile Spasms in infancy. I'm now 40. I also have Tuberous Sclerosis. Do Infantile Spasms comeback or effects cause problems in adult?
Adults: You may have a Tuberous Sclerosis Complex which can cause seizures similar to infantile spasms or hypsarrhthmia ...Read more
What is the difference between a seizure & a pseudoseizure? I have tuberous sclerosis & my EEG came back normal. I swear I am not "faking" these!
Seizure vs pseudo:
A seizure is a brain event due to abnormal electrical activity. A pseudoseizure is a psychological issue and not actually a seizure from the brain.
Up to 50% of people who have epilepsy may not show an abnormality on eeg between seizures. Seizures are common in tuberous sclerosis. A normal eeg does not rule out epilepsy. ...Read more