Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder which leads to benign tumors to increase in the brain and about other essential organs like the kidneys, heart, liver, eyes, lungs, along with the skin. A mixture of symptoms could consist of seizures, intellectual impairment, developmental delay, behavioral issues, skin abnormalities, as well as kidney and lung disease. TSC results from a mutation of both 2 genes, TSC1 and TSC2, which code to its proteins hamartin and tuberin, respectively. These proteins act as tumor development suppressors, agents which regulate cell proliferation and differentiation.
Tuberous (TWO-bur-uhs skluh-ROH-sis), also called tuberous sclerosis complex, is an uncommon genetic disorder that causes noncancerous (benign) tumors — unexpected overgrowths of normal tissue — to develop in many parts of the body. Signs and symptoms vary widely, depending on where the growths develop and how severely a person is affected.
Although there is no cure for tuberous sclerosis, and the course or severity of the disorder can’t be predicted, treatments are available to manage symptoms.
Symptoms of tuberous sclerosis
Tuberous symptoms are brought on by noncancerous growths (benign tumors), in areas of the human body, most commonly from the mind, kidneys, eyes, heart, skin and lungs, though any area of the human body may be affected. Symptoms may vary from mild to severe, depending on the size or area of this overgrowth.
Even Though the symptoms and signs are unique for every Individual with tuberous sclerosis, they could include:
Skin abnormalities. Many people with tuberous sclerosis have spots of skin that is light, or they might create small, benign areas of cracked, smooth skin or red lumps under or around the nails. Facial growths which start in youth and resemble acne are also typical.
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.
Eye abnormalities. Growths can look as white spots on the light-sensitive tissue in the back of the eye (retina). These noncancerous growths do not always interfere with vision.
Causes of tuberous sclerosis
Symptoms and signs of tuberous sclerosis might be seen at birth. Or the very first symptoms and signs may become evident during childhood as well as years later in adulthood.
Speak to your child’s doctor if you are worried about your child’s growth or you observe any of the symptoms or signs of tuberous sclerosis explained above.
