Tuberous Sclerosis
Tuberous Sclerosis Causes
The disease is caused by mutations on either of two genes, TSC1 and TSC2. Said genes encode for the proteins hamartin and tuberin respectively and act as tumor growth suppressors or agents that regulate cell proliferation and differentiation.
Tuberous Sclerosis Definition
Tuberous sclerosis is also known as tuberous sclerosis complex (TSC). It is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. The disease also has a predilection to tumor and the names are named after a characteristic abnormal growth in the brain, which takes the shape of a tuber root.
Tuberous Sclerosis Diagnosis
Retinal abnormalities, pale patches, and mulberry, phakoma or astrocytoma tumor may be revealed through an eye examination. MRI of the head, CAT scan of the head, kidney ultrasound, and ultraviolet light examination of the skin are among the other options to diagnose the disease.
Tuberous Sclerosis Symptoms and Signs
Tuberous sclerosis has several symptoms namely seizures, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. More specific symptoms include ash leaf spots on the skin, less often, caf?-au-lait spots, shagreen spots on the skin, red, highly vascular lumps on the face, mental retardation, seizures, rough growths under or around fingernails and toenails, pitted dental enamel, and kidney tumors.
Tuberous Sclerosis Treatment
There is no specific treatment for tuberous sclerosis. Treatment is specific to the symptoms. Medications are required for controlling seizures, which is often difficult. The need for special schooling or care is determined by the severity of mental retardation. Adenoma sebaceum (small growths) on the face may be removed by laser treatment. These lesions tend to recur and repeat treatments will be necessary. Rhabdomyomas commonly disappear after puberty, so surgery is usually not necessary. Regular ultrasound checks of the kidneys are an important screening tool for adults, to make sure there is no tumor growth.