How do I know if I have tuberous sclerosis?
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.
What is the cause of tuberous sclerosis?
Tuberous sclerosis is caused by changes (mutations) in either the TSC1 or TSC2 gene. These genes are involved in regulating cell growth, and the mutations lead to uncontrolled growth and multiple tumours throughout the body.
How serious is tuberous sclerosis?
Some individuals with tuberous sclerosis complex have seizures or benign brain tumors that can cause serious or life-threatening complications. Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases.
How do you test for tubular sclerosis?
Tests for tuberous sclerosis a skin examination – to look for abnormal growths or patches of pale or thickened skin. an MRI scan – to detect tumours in the brain or kidneys. a CT scan or ultrasound scan – to detect tumours in the kidneys, heart or lungs.
At what age is tuberous sclerosis diagnosed?
Patients were diagnosed with TSC at ages ranging from birth to 73 years. The average age at diagnosis was 7.5 years. Of the patients, 81% were diagnosed before the age of 10. Diagnosis during adolescence and adulthood was not uncommon.
What is the life expectancy of someone with tuberous sclerosis?
This found that 5% of the TSC group had died, with an average age of 57 years. However there were only small numbers of older people with TSC in the study group. A much older study, from the Mayo Clinic in 1991, examined records from their 355 patients with TSC.
Is tuberous sclerosis rare?
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.
What is the treatment for tuberous sclerosis?
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.
How can tuberous sclerosis be prevented?
There is no known way to prevent or avoid getting tuberous sclerosis. If you have a family history of the disease and you want to have children, talk to your family doctor. He or she can refer you to a genetic counselor or medical geneticist. These specialists in genetics can help you decide what to do.
How is tuberous sclerosis inherited?
In cases where TSC is inherited, only one parent needs to have the faulty gene in order to pass it on to a child (called autosomal dominant inheritance). If a parent has TSC, each child has a 50 percent chance of developing the disorder.
Is tuberous sclerosis a disability?
The Social Security Administration (SSA) doesn’t have a dedicated disability listing for tuberous sclerosis. However, patients suffering from debilitating symptoms of their tuberous sclerosis may still qualify for benefit payments. The main determining factors for compensation include: Symptoms.
What is ash leaf spots?
Hypopigmented macules, also known as “ash-leaf spots,” can be present at birth and are most common on the trunk and lower extremities. They appear in 80 percent of persons with tuberous sclerosis by one year of age. Thus, they are the earliest indicator of this disorder.
What is Neurocutaneous disorder?
Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems. Each disorder has different symptoms.
What is a shagreen patch?
A shagreen patch (arrows) is an irregularly shaped, irregularly thickened, slightly elevated soft skin-colored patch, usually on the lower back, made up of excess fibrous tissue.
When do shagreen patches appear?
Shagreen patches vary in size from a few millimeters to more than 10 cm in diameter. If present, they are nearly always found on or around the lumbar region of the back. They typically first appear before or around puberty, but are sometimes seen in children as young as six months old.
What are Neurocutaneous markers?
Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems.
Are macules harmful?
Macules: Macules are smaller skin lesions, mostly in brown, white and red. Common examples of macules are moles and freckles. These skin lesions are not dangerous by themselves but can pose a threat when evolving over time.
What are Hyperpigmented macules?
Macules are flat lesions that are less than 1 cm in size. For example, macules can be moles (which are hyperpigmented, or darker, relative to the skin) or vitiligo lesions (which are hypopigmented or depigmented, or lighter, relative to the skin). The term “rash” refers to a collection of new changes on the skin.
What is an example of a Macule?
A patch is a large macule. Examples include freckles, flat moles, tattoos, and port-wine stains , and the rashes of rickettsial infections , rubella , measles (can also have papules and plaques), and some allergic drug eruptions .
Can Macules be cancerous?
A macule is not, in and of itself, a sign of skin cancer. While a macule may have an appearance suggestive of cancer, further tests would be needed to confirm or exclude a diagnosis.