Tuberous Sclerosis

Which are the symptoms of Tuberous Sclerosis?

See the worst symptoms of affected by Tuberous Sclerosis here

Symptoms of Tuberous Sclerosis

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic disorder that causes the growth of noncancerous tumors in various organs of the body. These tumors, called hamartomas, can develop in the brain, heart, kidneys, lungs, skin, and other organs. The symptoms of tuberous sclerosis can vary widely from person to person, and the severity of the condition can also differ significantly.

Neurological Symptoms

One of the primary areas affected by tuberous sclerosis is the brain. Neurological symptoms can manifest in different ways, including:

Epilepsy: The majority of individuals with tuberous sclerosis experience seizures at some point in their lives. Seizures can range from mild to severe and may be difficult to control with medication.

Intellectual disability: Many people with tuberous sclerosis have learning difficulties and intellectual disabilities of varying degrees. This can affect their cognitive abilities, language development, and overall academic performance.

Autism spectrum disorder: A significant number of individuals with tuberous sclerosis also have autism or exhibit autistic-like behaviors. These may include social and communication challenges, repetitive behaviors, and difficulty with social interactions.

Behavioral problems: Some individuals with tuberous sclerosis may experience behavioral issues such as aggression, hyperactivity, impulsivity, or attention deficit hyperactivity disorder (ADHD).

Skin Symptoms

Tuberous sclerosis can cause various skin abnormalities, which are often present from birth or develop in early childhood. These skin symptoms may include:

Hypomelanotic macules: These are light-colored patches on the skin that appear as pale spots or areas.

Facial angiofibromas: These are small, reddish bumps that commonly appear on the face, particularly on the cheeks and nose.

Shagreen patches: These are rough, thickened patches of skin that typically appear on the lower back or nape of the neck.

Forehead plaques: Raised, flesh-colored or reddish patches that can be found on the forehead.

Connective tissue tumors: Some individuals with tuberous sclerosis may develop benign tumors called fibromas on the skin.

Renal Symptoms

Tuberous sclerosis can also affect the kidneys, leading to various renal symptoms, including:

Angiomyolipomas: These are benign tumors that can develop in the kidneys and may cause pain, blood in the urine, or urinary tract infections.

Cysts: Individuals with tuberous sclerosis may develop cysts in the kidneys, which can affect their function and potentially lead to kidney failure.

Cardiac Symptoms

In some cases, tuberous sclerosis can impact the heart, resulting in cardiac symptoms such as:

Rhabdomyomas: These are noncancerous tumors that can develop in the heart muscle. While they often do not cause symptoms, they may lead to arrhythmias or heart failure in rare cases.

Pulmonary Symptoms

Tuberous sclerosis can affect the lungs, although pulmonary symptoms are less common. Some individuals may experience:

Lymphangioleiomyomatosis (LAM): This is a rare lung condition characterized by the growth of abnormal smooth muscle cells in the lungs. LAM can cause shortness of breath, coughing, and lung collapse.

Other Symptoms

Tuberous sclerosis can also involve other organs and systems in the body, leading to additional symptoms such as:

Eye abnormalities: Some individuals may develop benign tumors in the retina called retinal hamartomas, which can affect vision.

Oral manifestations: Dental issues, such as enamel pits or gum overgrowth, can occur in individuals with tuberous sclerosis.

Endocrine problems: Rarely, tuberous sclerosis can affect the endocrine system, leading to hormonal imbalances or the development of tumors in the pancreas or other glands.

Benign tumors in other organs: Tuberous sclerosis can cause hamartomas in various organs, including the liver, pancreas, and spleen.

It is important to note that not all individuals with tuberous sclerosis will experience all of these symptoms. The condition can vary greatly in its presentation and severity, even among affected family members. Early diagnosis and ongoing medical management are crucial in order to address the specific symptoms and provide appropriate care for individuals with tuberous sclerosis.

by Diseasemaps

I think for my case it's the : 1) Subependymal giant cell astrocytomas 2) Seizures 3) Renal angiomyolipoma

9/11/17 by AMusicGirl 700

There's no obvious symptons

4/2/19 by Marocas 870

epilepsy, and i wouldn’t replace it with any symptoms if possible

6/17/20 by Nick Fn Blum 2640

Translated from french Improve translation

The tuberous sclerosis Complex (TSC) is a genetic disease, mainly characterized by the development of benign tumors that can affect different organs. The skin, the brain and the kidneys are often affected, eyes, heart, teeth and lungs are less often. There is a great diversity of manifestations of the disease with a time course very variable from one person to another and according to age, ranging from forms virtually inapparentes, limited to the skin, to more severe forms affecting the brain, the kidneys or the lungs. It has been described for the first time in 1880 by D. M. Complex. The manifestations of TSC is very diverse because many organs can be affected. There are large differences from one person to another and according to age. This diversity also exists within the same family when multiple people are infected with the STB. In fact, the manifestations can be late and moderate, and sometimes inapparentes for some people, while others may have manifestations early and severe. The enumeration of all the possible manifestations of the disease, may seem worrisome, but you should know that no one person has all of them, at the same time. Skin disorders Violations of the nervous system With the Eye With renal With heart With pulmonary Other attacks Other organs may be affected, such as the digestive tract, bones,... These attacks are rare for some, and often of no consequence. The with dental deserve to be known. Swelling at the level of the gums (well dental) are possible, they may bleed and very fine depressions in the dental enamel can occur without increased risk of caries. Good dental hygiene is recommended.

4/7/17 by Guillaume. Translated

Translated from spanish Improve translation

It depends on each patient...to the most gives you seizures , other delay etc

9/19/17 by claudia. Translated

Translated from spanish Improve translation

Symptoms are benign growths in the skin, which is one of the indicators that are most notable, and least harmful, in the brain, in the kidneys, the heart or in the eye. The people who stay in the brain are the most limited a normal life because in most of the cases, and this is very important, no individual manifests the disease in the same way, I for example never had seizures belong to the six per cent , of my daughter of eleven months (for example if you have unexcused absences and is being medicated. That's why I said that the tumors at the neuronal level if it influences in the life of an ET

10/3/17 by PAOLA. Translated

Translated from spanish Improve translation

Symptoms more noticeable may be the white spots on the skin, of all sizes, from very small to more big, another symptom may be seizures, it is not always the seizures are aggregated (for whole body) can also be in a brazito, a piernita, half of the body. The symptoms that can further limit the life serious the epilepsies, tumors in the brain that delay the normal intelligence of a child.

10/11/17 by RolenMan. Translated

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