About epiloia

What is epiloia?

Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder may be characterized by episodes of uncontrolled electrical activity in the brain (seizures); mental retardation; distinctive skin abnormalities (lesions); and benign (noncancerous), tumor-like nodules (hamartomas) of the brain, certain regions of the eyes (e.g., retinas), the heart, the kidneys, the lungs, or other tissues or organs. In addition, many affected individuals may have cyst-like areas within certain skeletal regions, particularly bones of the fingers and toes (phalanges). Characteristic skin lesions include sharply defined areas of decreased skin coloration (hypopigmentation) that may develop during infancy and relatively small reddish nodules that may appear on the cheeks and nose beginning at approximately age four. These reddish lesions eventually enlarge, blend together (coalesce), and develop a wart-like appearance (sebaceous adenomas). Additional skin lesions may also develop, including flat, "coffee-colored" areas of increased skin pigmentation (cafe-au-lait spots); benign, fibrous nodules (fibromas) arising around or beneath the nails; or rough, elevated, "knobby" lesions (shagreen patches) on the lower back.

Tuberous sclerosis results from changes (mutations) in a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be inherited as an autosomal dominant trait. Most cases represent new (sporadic) gene mutations, with no family history of the disease. Mutations of at least two different genes are known to cause tuberous sclerosis. One gene (TSC1) has been mapped to the long arm (q) of chromosome 9 (9q34). A second gene for the disease (TSC2) is located on the short arm (p) of chromosome 16 (16p13.3). It remains unclear whether some sporadic and familial cases of the disease may be caused by mutations of other, currently unidentified genes (genetic heterogeneity).

What are the symptoms for epiloia?

Blisters on your skin and the mucous membranes of t symptom was found in the epiloia condition

Although the signs and symptoms are unique for each person with tuberous sclerosis, they can include:

  • Skin abnormalities. Most people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened, smooth skin or reddish Bumps under or around the nails. Facial growths that begin in childhood and resemble acne also are common.
  • Seizures. Growths in the brain may be associated with seizures, which can be the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm shows up as repetitive spasms of the head and legs.
  • Cognitive disabilities. Tuberous sclerosis can be associated with Developmental delays and sometimes Intellectual disability or learning disabilities. Mental health disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.
  • Behavioral problems. Common behavioral problems may include hyperactivity, self-injury or aggression, or issues with social and emotional adjustment.
  • Kidney problems. Most people with tuberous sclerosis develop noncancerous growths on their kidneys, and they may develop more growths as they age.
  • Heart issues. Growths in the heart, if present, are usually largest at birth and shrink as the child gets older.
  • Lung problems. Growths that develop in the lungs may cause coughing or shortness of breath, especially with physical activity or exercise. These benign lung tumors occur more often in women than in men.
  • Eye abnormalities. Growths can appear as white patches on the light-sensitive tissue at the back of the eye (retina). These noncancerous growths don't always interfere with vision.

What are the causes for epiloia?

Signs and symptoms of tuberous sclerosis may be noticed at birth. Or the first signs and symptoms may become evident during childhood or even years later in adulthood.

Contact your child's doctor if you're concerned about your child's development or you notice any of the signs or symptoms of tuberous sclerosis described above.

What are the treatments for epiloia?

Although there is no cure for tuberous sclerosis, treatment can help manage specific symptoms. For example:

  • Medication. Anti-seizure medications may be prescribed to control seizures. Other medications may help manage heart arrhythmias, behavior problems or other signs and symptoms. A drug called everolimus (Afinitor, Zortress) may be used to treat certain types of brain and kidney growths that can't be surgically removed. The topical ointment form of a drug called sirolimus may help treat acnelike skin growths.
  • Surgery. If a growth affects the ability of a specific organ — such as the kidney or heart — to function, the growth may be surgically removed. Sometimes surgery helps control seizures caused by brain growths that don't respond to medication. Surgical procedures such as dermabrasion or laser treatment may improve the appearance of skin growths.
  • Various types of therapy. Early intervention services, such as occupational, physical or speech therapy, can help children with tuberous sclerosis who have special needs in these areas improve their ability to manage daily tasks and activities.
  • Educational and vocational services. Early intervention and special needs services can help children with developmental delays and behavior issues adapt to the classroom so that they can meet their full potential. When needed, social, vocational and rehabilitation services may continue throughout life.
  • Psychiatric and behavior management. Talking with a mental health provider may help children accept and adjust to living with this disorder. A mental health provider can also help address behavioral, social or emotional issues and recommend resources.

Ongoing monitoring

Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up because many signs and symptoms may take years to develop. A schedule of regular follow-up monitoring throughout life may include tests similar to those done during diagnosis. Early identification of problems can help prevent complications.

What are the risk factors for epiloia?

Tuberous sclerosis can be the result of either:

  • A random cell division error. About two-thirds of people who have tuberous sclerosis have a new mutation in either the TSC1 or TSC2 gene — the genes associated with tuberous sclerosis — and do not have a family history of tuberous sclerosis.
  • Inheritance. About one-third of people who have tuberous sclerosis inherit an altered TSC1 or TSC2 gene from a parent who has the disorder.

If you have tuberous sclerosis, you have up to a 50 percent chance of passing the condition to your biological children. Severity of the condition may vary. A parent with tuberous sclerosis may have a child who has a milder or more severe form of the disorder.

Is there a cure/medications for epiloia?

Cells that have Epiloia cease dividing when they ought to. This means that many parts of your body can develop tumours. While they are not cancerous, the areas where they are growing may experience issues. There are Treatments available that can reduce the tumours and increase your comfort.

Cure or medications for Epiloia

  • In case of seizures, anti-seizure medications may be prescribed. Other medications may help manage heart arrhythmias, behavior problems or other signs and symptoms.
  • Everolimus medications (Afinitor, Zortress) may be used to treat certain types of brain and kidney growths that can't be surgically removed. The topical ointments like Sirolimus may help treat acne-like skin growths.
  • If Epiloia is harming your kidneys, your doctor may be able to diminish kidney tumors by prescribing medications or by blocking or reducing blood flow to them. To get the tumors out, surgery might be required. You might eventually require dialysis or a kidney transplant as well.
  • Before tumors get large, laser treatment (dermabrasion) can help "refinish" or smooth your skin.
  • Sometimes, medications can decrease tumors in the brain, or surgeons can remove them.
  • Occupational, physical or speech therapy, can help children with tuberous sclerosis who have special needs in these areas improve their ability to manage daily tasks and activities.

Unexplained widespread skin pain,Skin abnormalities,Seizures,Cognitive disabilities,Behavioral problems,Kidney problems,Heart issues,Lung problems,Eye abnormalities,A red or purple rash that spreads,Blisters on your skin and the mucous membranes of the mouth, nose, eyes and genitals
Noncancerous (benign) tumors,Malformations within organs and skin lesions,Psychological maladies,Seizures
Anti-seizure medications,Everolimus (Afinitor, Zortress),Sirolimus,occupational, physical or speech therapy,Surgery

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