Tuberous Sclerosisenparents sclerosis is a condition that causes the growth of benign tumors. Symptoms can range from mild to severe. tuberous sclerosis, tuberous sclerosis complex, TSC, hamartomas, tumors, neurology, 05/29/201802/28/201909/02/2019Harry T. Chugani, MD05/29/2018ef1140d5-2dc5-4110-8ab2-318aead44a64<h3>What Is Tuberous Sclerosis?</h3> <p>Tuberous sclerosis (TOO-bur-iss skluh-ROE-sis) is a condition that causes the growth of noncancerous (benign) tumors. This happens when cells grow out of control and divide more than they should.</p> <p>The tumors caused by tuberous sclerosis are called <strong>hamartomas</strong> (ham-ar-TOE-muhs). Hamartomas can grow in many parts of the body. They mostly affect the <a href="">skin</a>, brain, kidneys, heart, eyes, and lungs.</p> <p>Tuberous sclerosis is also called tuberous sclerosis complex (or TSC).</p> <h3>What Are the Signs &amp; Symptoms of Tuberous Sclerosis?</h3> <p>Tuberous sclerosis symptoms can range from mild to severe. Some children have only mild skin changes, such as pale patches, thickened skin, or a facial rash that looks like acne.</p> <p>Symptoms often depend on where the tumors are:</p> <p><strong>Brain:</strong> Hamartomas in the <a href="">brain</a> can cause seizures, developmental delay, <a href="">anxiety</a>, intellectual disability, <a href="">ADHD</a>, behavior problems, and <a href="">autism</a>. About half of kids with tuberous sclerosis have intellectual disabilities.</p> <p><strong>Kidneys:</strong> Hamartomas in the <a href="">kidneys</a> can cause problems with how they work and even lead to kidney failure.</p> <p><strong>Heart:</strong> Hamartomas can block blood flow or change the heart's rhythm. <a href="">Heart</a> hamartomas usually get smaller as a child grows.</p> <p><strong><a href="">Eyes</a>:</strong> Hamartomas on the retina can affect <a href="">vision</a>.</p> <p><strong>Lungs:</strong> Hamartomas can cause <a href="">coughing</a>, trouble breathing, or a buildup of fluid around the <a href="">lung</a>. Girls tend to have more serious lung problems than boys, but these do not become a problem until adulthood.</p> <p>Early signs that a child has tuberous sclerosis often include:</p> <ul> <li><a href="">seizures</a> (uncontrolled shaking of the body)</li> <li>developmental delay (walking, talking, or other new skills happen later than in most children)</li> </ul> <p>Sometimes, doctors suspect TSC before birth if a mother's <a href="">ultrasound</a> shows the baby has a heart tumor (called a rhabdomyoma).</p> <h3>What Causes Tuberous Sclerosis?</h3> <p>Tuberous sclerosis can be inherited or happen randomly:</p> <p><strong>Inherited.</strong> Most cases of tuberous sclerosis are due to a <a href="">genetic</a> mutation (a change in a person's DNA) in one of two genes, TSC1 or TSC2. A baby will be born with tuberous sclerosis if the child inherits a TS gene from either parent.</p> <p><strong>Randomly.</strong> In other cases, both parents of a child with tuberous sclerosis have normal DNA (no TS gene). This is called a new or spontaneous mutation.</p> <h3>How Is Tuberous Sclerosis Diagnosed?</h3> <p>Most cases of tuberous sclerosis are found when a child sees a doctor after a seizure. Doctors usually diagnose TSC based on skin changes and other symptoms. They also might order these imaging tests:</p> <ul> <li>X-rays of bones and muscles</li> <li><a href="">MRI</a> scans</li> <li>CAT (CT) scans</li> </ul> <p>Children who have very mild symptoms might not be diagnosed until the teen years or later.</p> <p>If a pregnant woman has tuberous sclerosis or a TS gene runs in the family, <a href="">prenatal tests</a> might show whether the fetus (unborn baby) has the TS gene.</p> <h3>How Is Tuberous Sclerosis Treated?</h3> <p>There is no cure for tuberous sclerosis. But many of its symptoms get better with treatment. Tuberous sclerosis complex is a lifelong condition that can affect one or many parts of the body. So, kids who have it can need care from many specialists, such as:</p> <ul> <li><strong>neurologists</strong> for brain-related symptoms</li> <li><strong>nephrologists or urologists</strong> for kidney problems</li> <li><strong>dermatologists</strong> for skin issues</li> <li><strong>pulmonologists</strong> for lung problems</li> <li><strong>ophthalmologists</strong> for eye problems</li> <li><strong>psychiatrists or psychologists</strong> for learning, behavior, or emotional issues</li> </ul> <p>Depending on where the tumors are and if they cause problems:</p> <ul class="kh_longline_list"> <li>A surgeon can remove tumors in the heart, brain, or kidney.</li> <li>Doctors might block or reduce the flow of blood to kidney growths. Sometimes, medicine can shrink them. Someone with severe kidney problems might need dialysis (use of an artificial kidney machine) or a <a href="">kidney transplant</a>.</li> <li><a href="">Physical therapy</a>, <a href="">occupational therapy</a>, and speech therapy can help with a developmental delay.</li> </ul> <p>Medicines can help treat:</p> <ul> <li>seizures</li> <li>skin problems</li> <li><a href="">high blood pressure</a> caused by <a href="">kidney disease</a></li> <li>some tumors in the brain and kidneys</li> <li>lung problems</li> <li>tumors of the kidneys, lungs, and other organs that are getting bigger</li> </ul> <h3>Looking Ahead</h3> <p>Ongoing, regular medical care for tuberous sclerosis is important. Doctors will watch for tumor growth and see how treatment is working. An MRI scan of the head and a CT or MRI scan of the belly every 1–3 years is normal for a child with tuberous sclerosis.</p> <p>Early diagnosis can help most kids with tuberous sclerosis get the care they need to lead active, independent lives. For most, tuberous sclerosis won't affect their life span.</p> <p>If your child has tuberous sclerosis, you don't have to go it alone. Look for an online or local support group, like the Tuberous Sclerosis Alliance, where you can connect with other families dealing with tuberous sclerosis. They can share what works for them and be a lot of help if you feel overwhelmed. Ask your child's doctor for recommendations.</p>Esclerosis tuberosaLa esclerosis tuberosa es una afección médica que causa la formación de tumores no cancerosos (benignos). Esto ocurre cuando las células crecen de forma descontrolada y se dividen más de lo que se deberían dividir.
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kh:age-allAgesOrAgeAgnostickh:clinicalDesignation-geneticskh:genre-articlekh:primaryClinicalDesignation-neurologyGenetic, Chromosomal & Metabolic Conditions & Nervous System