It is known as tuberous sclerosis, tuberous sclerosis complex, TSC, Bourneville syndrome, or Bourneville disease, a rare hereditary pathology, which causes the formation of abnormal masses, that is, tumors that are not cancerous, in different organs of the body, such as skin, heart, kidneys, retina, and lungs. When you suffer from this condition, it is usual to affect the central nervous system, mainly the spinal cord and the brain.
Although it is a hereditary disorder, they are due to new genetic mutations in many cases, so there may be no family history of this disease. It corresponds to a group of pathologies called neurocutaneous syndromes, and there is no known risk factor other than having a parent with the same alteration.
This disease is not specific to an ethnic group or sex, and it is estimated that worldwide there is one case for every 6000 newborns. If you want to know more about this disorder, at FastlyHealwe offer you all the information related to tuberous sclerosis: symptoms and treatment.
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Primary symptoms of tuberous sclerosis
Although the symptoms of Bourneville disease depend on the organ that is affected and the predisposition of each person, general symptomatology can be found that affects the skin and the brain. Among the cutaneous symptoms, the appearance of white parts of the skin stands out because of a decrease in pigment. In addition, red areas may appear on the face because they could contain many blood vessels, which is medically known as a sebaceous adenoma. There may also be raised patches of skin with a peeled texture among these symptoms.
Likewise, brain symptoms can include:
- developmental delays
- autistic-type disorders
- epileptic crisis
- An intellectual disability, that is, an intellectual functioning below the normal average, leads to a lack of the skills necessary to develop daily life.
Other symptoms of Bourneville syndrome include non-cancerous tumors that can be seen on or around the tongue, cavities in tooth enamel, and rough masses on or under the fingernails and toenails. You must remember that the symptoms vary considerably for each person, so a small part of the symptoms described may be present. However, you must consult a doctor regarding any alteration you may observe.
Tests to diagnose Bourneville disease
Some of the signs that you may have tuberous sclerosis are having an abnormal heart rhythm, known as arrhythmia, the appearance of tumors in the brain or kidneys, there are calcium deposits in the brain, and neoplasms in the tongue or gums and other sites such as the retina.
When one of the above alterations appears, it is necessary to consult a doctor to carry out the corresponding tests. These may include a CT scan of the head area, ultrasound of the kidney or heart, an MRI to look at the brain or ultraviolet light skin exams to detect any disorder in the brain.
Treatment for Bourneville syndrome
As symptoms vary depending on the person and the location of the non-cancerous tumors, there is no specific treatment for tuberous sclerosis. For this reason, you must consult a doctor since he will give you the indicated treatment depending on the symptomatology that is present to reduce it.
In general, with neurological symptoms such as mental disability, special education is needed depending on the severity of each patient. Regarding epileptic seizures, different drugs can be used to control the seizures, although the total interruption of these is not guaranteed. Also, brain tumors require drugs known as rapamycin targeting inhibitors in mammalian cells. On the other hand, kidney tumors can be treated with surgery or medications to reduce blood flow.
If one of the symptoms is a sebaceous adenoma, that is, red tumors on the face, its removal could be through laser treatment; however, they may reappear, so the treatment needs to be repeated.
The life expectancy of tuberous sclerosis
In some cases, the signs of Bourneville syndrome appear from the moment of birth, but the most common is that these appear later. Being a progressive disease, generally, with the years of life, more alterations appear, making the symptoms more evident; however, when mild tuberous sclerosis has been inherited, these signs may go unnoticed, and the disease is discovered if one of the children develops it to a more advanced degree.
On the other hand, although Bourneville disease is characterized by the development of non-cancerous tumors, within its complications, these tumors could evolve to a malignant type, especially those found in the brain or kidneys. For this reason, it is essential to maintain constant controls and follow the treatment that has been indicated without self-medicating or changing the doses.
The life expectancy for tuberculous sclerosis varies according to the degree of it, the age at which the symptoms become visible, the size of the tumors, which structures of the body have been damaged, and their condition. On average, people who suffer from this neurocutaneous syndrome reach 24 years of age, although they can live longer with new treatments, drugs, and diagnostic tests. Especially in patients with a mild degree of disease, since those who go through severe episodes of epilepsy or if their mental capacity has been severely compromised usually do not have a good prognosis.
This article is merely informative, at FastlyHeal .com we do not have the power to prescribe medical treatments or make any type of diagnosis. We invite you to see a doctor in the case of presenting any type of condition or discomfort.
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I am a Surgeon with a diploma in comprehensive ultrasound and surgical care residency, an area I am specializing in. During the exercise of my profession, I have realized the need for patients to know the diseases they suffer, and I can tell you that a large part of their complications is due to a lack of information. Being a health web writer allows me to transmit my experience, without borders, to all those readers eager for knowledge, educate them in the prevention of diseases and promote a healthy lifestyle.