What is tuberous sclerosis? What is tuberous sclerosis?

Tuberous sclerosis complex (TSC), also known as Bourneville disease, is an autosomal dominant neuro** syndrome, and there are also sporadic cases, mostly caused by abnormal organ development of ectodermal tissues, and multiple organs such as brain, **, peripheral nerves, and kidneys can be affected, and the clinical characteristics are facial sebaceous adenoma, seizures and mental decline. The incidence rate is about 1,6000 live babies, with a male-to-female ratio of 2:1.

On May 11, 2018, the National Health Commission and other five departments jointly formulated the "First Batch of Rare Disease Catalog", and tuberous sclerosis complex was included in it. [1]

Nickname. Bourneville disease.

English name. Tuberous Sclerosis Department. Neurology.

Multi-incidence groups. Onset in childhood, more common in males than females.

Common**. Autosomal dominant inheritance.

Tuberous sclerosis complex is a chromosomal dominant syndrome, but also a hereditary disease, the typical symptoms are facial sebaceous adenoma and seizures, but also accompanied by mental retardation, the specific manifestation is to appear, sebaceous adenoma in the triangular area of the mouth and nose, and it is light red or reddish-brown, the second is the fibroma under the nail bed, as well as some hypopigmented spots on the body, including some neurological symptoms, such as epilepsy, generally progressive aggravation, Symptoms may also occur in the eyes, and patients may also have kidney disease, heart disease, and lung lesions.

Tuberous sclerosis complex is a single-chromosome dominant neuro** syndrome, and there are also sporadic cases, all of which have abnormal organ development of ectodermal tissues, and can involve multiple organs such as brain, **, peripheral nerves, and kidneys, and the clinical characteristics are facial sebaceous adenoma, seizures and mental retardation.

Tuberous sclerosis complex is a genetic disorder. In many organs in the human body, there will be a manifestation of sclerosis mainly involving the brain, heart, liver, kidneys, and lungs, and some nodular changes or tumor-like changes, which is called tuberous sclerosis. The main thing is that it can cause tuberous sclerosis changes to the brain, which can cause seizures in the patient.

Seizures can cause symptoms such as loss of consciousness and twitching of the limbs. Some nodules in other organs sometimes do not show symptoms if they are relatively mild, so many patients are generally found to have epilepsy because of epilepsy.

Tuberous sclerosis complex is an autosomal dominant neurological syndrome, which is a genetic disorder. According to the different parts of involvement, there are different clinical manifestations, and the typical manifestations are mainly sebaceous adenoma of the face, seizures, mental retardation, etc., which generally occur in childhood, and there are more male children than women.

Specific manifestations include the following:

Clause. 1. Damages. It is mainly a sebaceous adenoma in the triangular area of the mouth and nose, symmetrically butterfly-shaped, pale red or reddish-brown, and is a hard waxy papule the size of a needle to the size of a broad bean, which fades slightly.

Clause. Second, it also includes fibroids under the nail bed, as well as some hypopigmented spots on the body. Neurologic damage includes seizures, mental retardation, and is usually progressively worsening, as well as ocular symptoms.

Half of the patients will have retinal glioma, and it may also be accompanied by kidney disease, heart disease, lung disease, bone disease, etc.

Tuberous sclerosis complex is an autosomal dominant neurological syndrome, and there are also sporadic cases, mostly caused by abnormal organ development of ectodermal tissues, and multiple organs such as brain, **, peripheral nerves, and kidneys can be affected.

Clinical manifestations may vary depending on the site of involvement, typically facial sebaceous adenoma, seizures, and mental retardation.

In tuberous sclerosis, the drug rapamycin can be used.

For epilepsy**, early seizure control is thought to help prevent secondary epileptic encephalopathy and cognitive-behavioral impairment.

Others** include dehydration to lower intracranial pressure, obstruction of cerebrospinal fluid circulation and surgery**, and facial sebaceous adenoma can be facelifted**.

Tuberous sclerosis complex (TSC), also known as Bourneville disease, is an autosomal dominant neuro** syndrome, and there are also sporadic cases, mostly caused by abnormal organ development of ectodermal tissues, and multiple organs such as brain, **, peripheral nerves, and kidneys can be affected, and the clinical characteristics are facial sebaceous adenoma, seizures and mental decline. The incidence rate is about 1,6000 live babies, with a male-to-female ratio of 2:1.

On May 11, 2018, the National Health Commission and other five departments jointly formulated the "First Batch of Rare Disease Catalog", and tuberous sclerosis complex was included in it.

Tuberous sclerosis complex is an autosomal dominant neurotic syndrome, mainly due to the abnormal organ development of ectodermal tissue, which is a compound dysplasia caused by autosomal dominant inheritance, cell differentiation and reproduction, and can affect almost all organs. The incidence rate is 1.1 million and the prevalence is 5.1 million, with a male-to-female ratio of about 2:1.

Clinical manifestations of tuberous sclerosis.

Depending on the site of involvement, there may be different presentations. Typical presentation is facial sebaceous adenoma, seizures, and mental retardation. It is more common in childhood and more common in men than in women.

1.**Damage.

It is characteristic of a triangular sebaceous adenoma of the nose, with a symmetrical butterfly-like distribution, pale red or reddish-brown, a sharp hard wax papule, the size of a mung bean, slightly faded according to the color. 90% are at 4 years of age, increasing with age and rarely affecting the upper lip. Tree-shaped, oval, or irregular depigmented patches over three millimeters long are found on the extremities and trunk in 85% of patients after birth, especially when viewed under ultraviolet light.

Sharkskin spots in the lumbosacral region can appear in 20% after the age of 10 years, slightly higher than normal**, locally** thickened and rough, grayish-brown or slightly brown patches. Subnail fibroids, also known as Koenen tumors, can be found in 13% of patients, which grow from the nail sulcus, and are common in the nails, which are more common in adolescence and can be the only skin lesion of the disease. More than 3 of these depigmented plaques and subungual fibroids are characteristic lesions.

2.Neurological lesions.

1) Epilepsy is the main neurological symptom of the disease, with an incidence of 70% to 90%, starting from infancy and early childhood, and the seizures are diverse, ranging from infantile spasms to partial focal or complex seizures and generalized grand mal seizures.

Frequent and persistent seizures can be followed by epileptic personality disorders such as disobedience and stubbornness. If accompanied by ** depigmentation, it can be diagnosed as tuberous sclerosis, which later transforms into general, simple partial and complex partial seizures, and the frequent episodes often have personality changes.

2) Mental retardation is more progressive, accompanied by emotional instability, childish behavior, impulsivity, thinking disorders and other psychiatric symptoms, mental decline is almost always accompanied by early-onset seizures, intellectual disability, seizures, and abnormal peak rhythm electroencephalogram (EEG) related mental retardation, and some patients can manifest autism.

3) A small number of positive neurological signs may be present. For example, extrapyramidal signs or monoplegia, hemiplegia, paraplegia, tendon hyperreflexia, etc., such as subependymal nodules blocking cerebrospinal fluid circulation pathways or local giant nodules, and concurrent tumors can cause intracranial hypertension.

It is mainly due to the abnormal organ development of ectodermal tissue, which is a compound dysplasia caused by autosomal dominant inheritance, cell differentiation and reproduction abnormalities, and can affect almost all organs in an autosomal dominant genetic disease, which is manifested as brain, eye, **, heart, lungs, liver, peripheral nerves, kidneys, bones and other systems and multiple organs are involved.

Tuberous sclerosis complex is a genetic disorder that is caused by an autosomal abnormality.

Tuberous sclerosis complex is an autosomal dominant neuro** syndrome.

Tuberous sclerosis complex is a hereditary disease, generally autosomal dominant inheritance, which mainly causes changes in nerves and **, so it is also called neuro** syndrome. Tuberous sclerosis, which can appear as ** lesions, manifests mainly as sebaceous adenoma in the triangular area. It can cause damage to the nervous system, mainly manifested as epilepsy or progressive mental retardation, and some patients have extrapyramidal reactions of the nervous system.

Some patients present with retinal glioma, and some patients can cause kidney lesions, also known as renal tuberous sclerosis. Kidney lesions are mainly manifested as renal angiomyolipomas, also called hamartomas or renal cysts. The main manifestations are hematuria, proteinuria, hypertension, and an abdominal mass.

Tuberous sclerosis complex is an autosomal dominant inherited disease, a very small part of which can also be sporadic, characterized by central nervous system and various non-neural tissue hamartomas and benign neoplastic lesions, mainly including the brain, heart, liver, kidneys, lungs and other organs. The clinical symptoms of tuberous sclerosis are mild, often before the age of five, and there is also the onset in adolescence or adulthood, patients generally seek medical attention with epilepsy as the main complaint, and usually have intellectual disability, the typical manifestations are the triad of head and face angiofibromas, seizures and intellectual development disorders, but the simultaneous occurrence rate is relatively rare.

Tuberous sclerosis complex is a genetic disease of the chromosomes, so most of them occur when babies are very young. There will be a red spot on the face, and there will also be a ** on the waist and abdomen. If it affects the nervous system, symptoms of epilepsy may occur, and it must be controlled in time.

It can also affect mental development, impulsivity and other conditions.

Tuberous sclerosis complex, is a hereditary disease. Typical manifestations include ** lesions, sebaceous adenoma, some can have symptoms of epilepsy, and some can have mental retardation. It can involve multiple organs.

However, depending on the area affected, the presentation is also very different. If your child's symptoms are mild, regular acceptance** is sufficient, the main protection is vulnerable**, avoiding infection, etc.

Tuberous sclerosis is a chromosomal genetic disease with multi-system involvement, generally speaking, such patients will have benign hamartomas of multiple organs such as brain, eyes, mouth, kidney, liver, etc., which can be manifested as epilepsy, intellectual disability, and masses. Since the disease is a chromosomal genetic disorder, there is about a 50% chance that the child will have a child if there is a parent with such a disorder.

Because the disease is often manifested as multi-organ involvement, its development has a certain stage, the main organs involved include the nervous system, **, kidneys and lungs, etc., ** damage can appear at different ages, facial damage in 4-10 years old. Since this disease can invade various systems, it is possible to diagnose or receive such patients in various departments, including neurology, ** department, stomatology, ophthalmology, internal medicine, surgery, etc. When there is an unknown nodule in the body, you should still go to the hospital in time to avoid delay**.

Others include mackerel skin-like patches or leaf-like depigmented spots. Usually**It is mainly symptomatic**, such as itching, and you can apply ointment, but there is no special**.

Tuberous sclerosis (tuberous sclerosis) is also known as tuberous sclerosis and Bourneville disease. The disease can be classified as neuro** syndrome (also known as nevus hamartomatomatosis), which is caused by abnormal development of organs originating from the ectoderm, involving the nervous system, ** and eyes, and can also affect mesoderm and endoderm organs such as the heart, lungs, bones, kidneys, and gastrointestinal tract. Clinically, it is characterized by facial sebaceous adenoma, seizures, and decreased intelligence.

Tuberous sclerosis complex is inherited in an autosomal dominant manner, but sporadic cases are not uncommon.

At present, there is no specific method for tuberous sclerosis, and ACTH can be used for symptomatic symptoms such as seizure control and infantile spasms; Dehydrating agents can be used to reduce intracranial pressure, cerebrospinal fluid circulation is obstructed, and cosmetic surgery is indicated for facial sebaceous adenoma. Due to the slow progression of the disease, some patients have a poor prognosis, most patients can survive for decades, and symptomatic ** can improve the quality of life of patients. Complications such as renal failure, heart failure, status epilepticus, and respiratory failure are the main causes of death.

Preventive measures include avoiding consanguineous marriages, carrier genetic testing, prenatal diagnosis, and elective abortion to prevent the birth of the child.

Tuberous sclerosis complex (TSC), also known as Bourneville disease, is an autosomal dominant neuro** syndrome, and there are also sporadic cases, mostly caused by abnormal organ development of ectodermal tissues, and multiple organs such as brain, **, peripheral nerves, and kidneys can be affected, and the clinical characteristics are facial sebaceous adenoma, seizures and mental decline. The incidence rate is about 1,6000 live babies, with a male-to-female ratio of 2:1.

The disease is hereditary, and the mode of inheritance is autosomal dominant, and about one-third of the cases are familial, that is, the TSC1 or TSC2 gene with mutations inherited from one parent; Sporadic cases account for about two-thirds of cases, i.e., patients are born with a newly mutated TSC1 or TSC2 gene and no family member has the disease. TSC1 mutations are more common in familial patients, while TSC2 mutations are more common in sporadic patients.

Its multisystem, multiorgan involvement differentiates it from other disorders involving the neurologic, neurological, and ocular tracts, such as neurofibromatosis and cerebrofacial angiomatosis. Hypopigmented macules can be found in neonates, most of which are not medically significant, and some other conditions such as vitiligo, hypopigmented nevi, partial vitiligo, and Vogt-Koyanagi-Harade syndrome can also have hypopigmented macules that need to be differentiated from TSC. Patients with epilepsy should be distinguished from primary or secondary epilepsy.

Radiographically differentiated from neurocysticercosis.