Tuberous sclerosis complex is a genetic disorder that is characterized by the development of benign tumors in different organs of the body. The following Buzzle write-up provides information about this medical condition.
Tuberous sclerosis complex (TSC) is a genetic condition that causes benign tumors in different organs such as the brain, eyes, heart, kidney, liver, skin, and lungs. In some cases, the symptoms could be subtle, and may take years to develop. As a result, this condition may remain undiagnosed for years. Those who are severely affected may have intellectual disabilities, behavioral problems, skin abnormalities, as well as seizures. Out of 1 million people that are affected by TSC worldwide, 50,000 people belong to the United States. TSC is more common than cystic fibrosis and Lou Gehrig’s disease.
This condition is caused by a mutation of either TSC1 or TSC2 genes that encode proteins, hamartin, and tuberin. These proteins are tumor growth suppressors that help in regulation of cell proliferation and differentiation. The name is derived from the Latin word tuber, which means swelling, and skleros, which means hard. This name originated from the pathological postmortem findings wherein brains had thick, firm, and pale gyri known as tubers. Désiré-Magloire Bourneville was the first person to describe tuberous sclerosis in 1880.
Symptoms are divided on the basis of major and minor features. An affected individual might exhibit at least one major and one minor feature. The symptoms include:
- Skin problems like light patches and thickened skin
- Behavioral problems
- Learning disabilities
- Kidney diseases
- Mental retardation
The major features of TSC include:
Angiofibromas: This is flesh-colored tumor of blood vessels and fibrous tissues. It may also include plaques on the face.
Angiomyolipoma: This is the benign tumor of the kidney that can cause serious problems. There is even a risk that these tumors may become cancerous in nature.
Cardiac rhabdomyoma: This condition is characterized by the development of a benign heart tumor.
Fibromas: The fibrous tumors might be seen around or under the fingernails and toenails of an affected individual.
Giant cell astrocytoma: This is a specific type of cancer that affects the brain in tuberous sclerosis.
Lymphangiomyomatosis: This condition is characterized by the development of multiple cysts along the lymphatic system.
Multiple hemangioblastomas: This condition is characterized by abnormal growth of newly formed blood vessels in the brain, spinal cord, or the eye.
Hypomelanotic macules: These are patches of light-colored skin.
Other Symptoms: Affected individuals could develop nodules and tubers in the brain, hemangioblastomas, kidney cysts, pancreatic cysts, pheochromocytoma, or kidney cancer. Some may develop shagreen patch, which refers to a leathery, pink area of nodules that is slightly elevated than the surface of the skin. Other symptoms include:
- Bone cysts
- Hamartomatous rectal polyps
- Multiple pits in teeth
- Gum fibromas
- Multiple kidney cysts
- Changes in the retina
- Confetti skin lesions
- Other hamartomas
There is no cure for TSC, but doctors follow a symptomatic approach when it comes to the treatment. The treatment involves the use of anticonvulsants, occupational therapy, dermabrasion, surgery in some cases, etc. The objective is to alleviate the symptoms experienced by the affected person. The prognosis depends on the severity of the symptoms, degree of learning disabilities, etc. Individuals who are severely affected are struck with some form of disabilities that could adversely affect the quality of life.
On a concluding note, early intervention is very important to overcome development delays in children who are affected by tuberous sclerosis complex. With the advancements in the field of medicine, hopefully, there will be a breakthrough that will make the incurable TSC a treatable disorder.
Disclaimer: The information provided in this article is solely for educating the reader. It is not intended to be a substitute for the advice of a medical expert.