Tuberous sclerosis (TOO-bur-us skluh-ROH-sis), also called tuberous sclerosis complex (TSC), is an uncommon genetic disorder that causes tumors to develop in many parts of the body.
Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes mainly non-cancerous (benign) tumours to develop in different parts of the body. The tumours most often affect the brain, skin, kidneys, heart, eyes and lungs.
Tuberous sclerosis complex (TSC) is a rare genetic disease characterized by seizures, developmental delay, and facial angiomas (Vogt's triad) (1). Neurofibromatosis type 1 (NF1) is another neurogenetic tumor syndrome caused by the mutation of the NF1 gene (2).
Tuberous sclerosis complex (TSC) is a rare genetic disease that causes noncancerous tumors to grow throughout your body. This condition, sometimes known simply as tuberous sclerosis, can affect people in many ways.
What is the normal life expectancy of a person with TSC? Most people will have a normal life span. There can be complications in organs such as the kidneys and brain that can lead to severe difficulties and even death if left untreated.
Interpretation: Renal disease is a major cause of mortality in TSC.
Many children born with tuberous sclerosis live full and productive lives. The condition must be treated appropriately through the years, but in most cases, outcomes are very positive with normal life expectancy.
People with tuberous sclerosis complex (TSC) have a much higher than average prevalence of neurological problems such as seizures and learning disabilities. Clinicians and researchers have found that people with TSC are also prone to a wide range of mental health and behavioral problems.
Autism Spectrum Disorder—There is a strong relationship between autism spectrum disorder and TSC. Many children with TSC develop autism spectrum disorder. Other symptoms include: Skin abnormalities vary widely in individuals with TSC.
An estimated 40-50 percent of individuals with TSC have autism spectrum disorder, making TSC a leading genetic cause of syndromic autism. Other common TSC-associated neuropsychiatric disorders (TAND) include intellectual disabilities and behavioral difficulties.
Although the overall cancer risk associated with TSC is low, people with TSC do have an increased risk of a specific type of brain cancer called giant cell astrocytoma and an increased risk of kidney cancer.
Tuberous sclerosis is an autosomal dominant disease, which leads to the assumption that it occurs equally in both females and males. Although affected equally, female patients tend to experience more severe mortality and morbidity rate, which is likely due to the high incidence of lung involvement in females.
Tuberous sclerosis also affects many other organs in the body. It can affect the brain, spinal cord, lungs, heart, kidneys, skin, and bones. It can also cause intellectual disability, developmental delays, seizures, and learning disabilities.
There is good news for tuberous sclerosis complex (TSC) patients. The U.S. Food and Drug Administration (FDA) on 4 April 2022 approved the use of Noblepharma's HYFTOR™ (sirolimus topical gel) 0.2%, a treatment for facial angiofibromas (facial tumors) in adults and children 6 years of age and older.
One of the earliest signs of tuberous sclerosis is white skin patches on a baby's body, called hypomelanotic macules. As the child gets older, he or she may develop other lesions such as a rash across the cheeks and nose, areas of thickened skin, and small bumps under the fingernails or toenails.
Tuberous sclerosis is a rare genetic disorder that affects 1 in 6,000 newborns in the United States. Approximately 40,000 to 80,000 people in the United States have tuberous sclerosis. The prevalence in Europe is estimated to be approximately 1 in 25,000 to 1 in 11,300.
TSC may cause other eye abnormalities, such as light patches on the retina, spots on the iris, lightly pigmented eyelashes, angiofibromas on the eyelids and small tumors on the surface of the eye. In most people with TSC, these eye manifestations cause no significant visual impairment.
Everolimus is a type of mTOR inhibitor, which interrupts or blocks the chemical reactions needed for tumours to grow. These inhibitors are a useful treatment for some of the problems caused by tuberous sclerosis.
Sometimes tuberous sclerosis can have such mild symptoms that the condition isn't diagnosed until adulthood, or it's not diagnosed at all. Sometimes tuberous sclerosis causes serious disabilities. There is no cure for tuberous sclerosis, and the course of the disorder and how bad it gets can't be predicted.
Tuberous sclerosis complex often affects the brain, with some affected individuals having benign growths in the outer surface of the brain (cerebral cortex) known as cortical tubers. Individuals with tuberous sclerosis complex often develop a pattern of behaviors called TSC-associated neuropsychiatric disorders (TAND).
Intellectual disability was present in 57% of individuals with tuberous sclerosis complex (TSC). Those with TSC without intellectual disability had significantly lower mean IQ compared to unaffected siblings.
Tuberous sclerosis (TS) is a monogenic disorder which causes disabling neurological symptoms. Similarly, multiple sclerosis (MS) may result in disability, but in contrast, is diagnosed without genetic testing.
Approximately 50-85% of children with tuberous sclerosis complex have mental retardation. Approximately 0.1-0.7% of patients with mental retardation have tuberous sclerosis complex. Nearly all patients with mental retardation have seizures, although the reverse is not always true.
Long term studies report mortality between 4.8 and 8.3% for a follow-up of 8 to 17.4 years.