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Tuberous sclerosis is caused by changes (mutations) in either the TSC1 or TSC2 gene. These genes are involved in regulating cell growth. They also help suppress tumors.
These mutations lead to uncontrolled growth and multiple noncancerous (benign) tumors throughout the body. A benign tumor is capsulated, non-evasive, slow growing, and its cells are normal. It does not metastasize (spread) to other parts of the body.
This rare genetic multisystem disorder is present from birth, although it may not immediately cause any obvious problems.
As they develop, the tumors form in various organ systems of the body, mostly affecting the brain, skin, kidneys, heart, eyes, and lungs.
Tuberous sclerosis is typically detected during infancy or childhood. In some cases, signs and symptoms are so mild that the condition isn't diagnosed until adulthood. Occasionally the disorder is missed altogether.
Tuberous sclerosis is a genetic disorder that can be inherited from one parent with tuberous sclerosis complex (TSC). In other words, it's passed on if they are carrying either the TSC1 or TSC2 mutated gene. The parent carrying the faulty gene will also have tuberous sclerosis. The condition can also result from a spontaneous genetic mutation in people without any other affected family members.
While they are not malignant and do not typically metastasize and spread to other areas of the body, these abnormal growths can grow larger and can damage the affected organ system.
Nearly all individuals with tuberous sclerosis develop abnormalities of the skin. These manifest themselves in a variety of ways, either as patches of light-colored skin, or as small, harmless areas of thickened, smooth skin, or reddish bumps under or around the nails. Facial growths that resemble acne are common during childhood.
TSC often affects the brain and, by extension, the central nervous system. Benign growths accumulate in the outer surface of the brain (cerebral cortex) known as cortical tubers. As a result, those with TSC can develop a pattern of behaviors called TSC-associated neuropsychiatric disorders (TAND).
TSC-associated TANDs include epilepsy, hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction, for example autism spectrum disorder. Attention-deficit/hyperactivity disorder is not uncommon, and neither is the tendency to experience seizures.
Kidney tumors are common in people with TSC. In fact, kidney problems are the third most common manifestation of the disorder, after brain and skin lesions. These growths can cause severe problems with kidney function and may be life-threatening in some cases.
Heart tumors that result from TSC are called cardiac rhabdomyomas. These tumors are most prevalent in infants and very young children with TSC, and become less prevalent with age.
Growths that develop in the lungs may cause coughing or shortness of breath. These pulmonary manifestations occur more often in women than in men.
Nearly 50% of individuals with TSC have problems with their eyes, where tumors called retinal hamartomas gather on the light-sensitive tissue at the back of the eye (retina). Fortunately, these tumors rarely grow large enough to cause blindness.
Diagnosis of tuberous sclerosis is based on a careful clinical exam in combination with computed tomography (CT) or magnetic resonance imaging (MRI) of the brain.
Healthcare professionals will ask questions about your family medical history to confirm a diagnosis. Long-term care and support will then be requited to treat this lifelong condition.
Ultrasound examinations of the heart, liver, and kidneys will also be carried out to ascertain the presence or otherwise of tumors in these organs. Eye and skin examinations are also standard procedure.
With no cure in sight, regular testing is important for people with the disorder. A care plan invariably includes routine monitoring of the condition. Tests and checks that may be recommended include additional MRI, CT, and ultrasound scans.
Regular blood tests will be required to check how well the kidneys are working. Blood pressure measurements will also be taken.
Although there is no cure for TSC, treatment can help manage specific symptoms. For example, anti-seizure medications may be prescribed to control spasms.
Prescribed medication is also available to treat certain types of brain and kidney growths that can't be surgically removed. And there are topical ointments that may help treat unsightly, acne-like skin growths.
If a growth affects the ability of a specific organ to function properly, it may be surgically removed. Surgery is also known to control seizures caused by brain growths that don't respond to medication.
Children diagnosed with tuberous sclerosis who have special needs may benefit from early intervention services such as occupational, physical, or speech therapy. As well as improving their ability to manage daily tasks and activities, therapy of this kind helps build confidence and reinforces self-esteem.
Furthermore, specialist therapy targeted at youngsters with developmental delays and behavior issues will help them adapt to a classroom environment so that they can reach their full potential.
Adult women with TSC may be required to undergo a high-resolution computed tomography (HRCT) of the chest. Remember, females are more prone to pulmonary manifestations than males.
For those living with tuberous sclerosis, the outlook can vary considerably. Many signs and symptoms of the disease can take years to develop, with some people experiencing few problems throughout their lives.
But while many people with TSC enjoy a normal lifespan, others may experience severe and life-threatening episodes that will require lifelong care.
Talking openly with loved ones helps ease the burden of living with TSC. They'll want to know how they can support you. Joining a dedicated support group can help you manage even better: hearing from other people and families who face similar challenges can help you understand what's going on and make you feel connected.
And a quick browse online will link you to all sorts of dedicated tuberous sclerosis societies and organizations.
Sources: (Frontiers in Neurology) (Genetics and Molecular Biology) (TSC Alliance) (NORD) (FamilyDoctor.org) (MedlinePlus) ( Child's Nervous System)
Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a rare genetic multisystem disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. However, when severe, tuberous sclerosis can shorten your life. The condition has a global incidence of one per 6,000–10,000 live births, and over a million people are estimated to be affected worldwide. A little-known disease, tuberous sclerosis nonetheless has a dramatic impact on the lives of those affected by the condition. And it's something we should all be more aware of.
Click through for a better understanding of this uncommon genetic disorder.
What do we know about tuberous sclerosis?
TSC and the dramatic impact it has on the lives of those affected by the condition
HEALTH Human body
Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a rare genetic multisystem disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. However, when severe, tuberous sclerosis can shorten your life. The condition has a global incidence of one per 6,000–10,000 live births, and over a million people are estimated to be affected worldwide. A little-known disease, tuberous sclerosis nonetheless has a dramatic impact on the lives of those affected by the condition. And it's something we should all be more aware of.
Click through for a better understanding of this uncommon genetic disorder.