Genetic diseases

Tuberous sclerosis

Tuberous sclerosis

tuberous sclerosis photos Tuberous sclerosis - a disease of genetic character fakomatoznoe that affects many organs and tissues, forming a benign tumor.To diagnose tuberous sclerosis is difficult due to the large number of marked clinical signs and symptoms of primary depending on the age.

tuberous sclerosis occurs much more frequently than it is diagnosed.This suggests that some form of the disease, namely the clinical symptoms of nonspecific etiology are not taken into account, and patients with specific symptoms and signs, which do not relate to entities that are often observed by doctors of narrow specialization.

Tuberous sclerosis can be found mainly in children and adolescents in a ratio of 1: 10000, in children under five years - 1: 15000, neonatal - 1: 6000 in adults - 1: 40000.The pathological signs of the disease are characterized by incomplete ranging expressiveness.

severe form of tuberous sclerosis occur sporadically, and the degree of light is a family type.Primary tumors develop in

various organs of several types of cells, which indicates inferior genetic structures preceding neoplasms.

When tuberous sclerosis distoliya cell layer is formed, and there is abnormal changes of nerve cells, which is a sign of incomplete development of certain parts of the brain.

Tuberous sclerosis causes

Tuberous sclerosis is inherited autosomal dominant, characterized by heterogeneity with incomplete penetrance form, the emergence of new changes that are detected in 68% of cases in early childhood.

main causes tuberous sclerosis are mutations that occur in the genes localized in the 9th and 16th chromosomes and are responsible for the disease.Depending on the modified gene, two types of pathology arising in TSC TSC 1 and 2 genes, which are subjected to encoding two proteins - hamartin and tuberin.These genes belong to the number of tumor suppressors, which are not allowed to develop pathological illnesses and limiting excessive tissue growth.

a comprehensive study of mutations is rather expensive and manipulation depends on the size and structure of the mutated genes.Certain pathological defects are detected in 85% of patients.Some studies suggest the possibility to compare sporadic mutations in one gene TSC and TSC to 2. Thus, in the latter gene have a high incidence of mental retardation and occurrence of seizures.Besides kidney damage and facial angiofibromas appear.Sometimes these mutations occur in TSC 2 clinical picture of moderate nature.

Tuberous sclerosis symptoms

Stormy clinical signs typical tuberous sclerosis expressed polymorphism.Hamartomas (tumors of immature embryonic tissue) are a single destination for all tumors of this disease.

main clinical manifestations of tuberous sclerosis are disorders of the skin and central nervous system.Skin diseases are manifested in the form of hypopigmented spots (gipomelanoznyh macula), hypopigmented flat spots with the color of coffee with milk, angiofibromas person plots "shagreen" fibrous plaques, fibroids and tumors of soft Cohen.

Gipomelanoznye macula primarily located on the entire body, except for the feet, hands and genitals, and diffuse asymmetrically.They come from the very birth, and in the two-year, three-year age.The faster the baby grows, the increasing number of them with the greatest localization on the buttocks and the torso, where they take an asymmetric position.

hypopigmented spots in the tuberous sclerosis have a matte-white, oval or leaf-shaped, a characteristic symptom of confetti.Depigmentation eyelashes, hair and eyebrows are a special sign of tuberous sclerosis.

Pringle Adenoma or angiofibroma face shown from 45 to 90% since 4 years.This feature tuberous sclerosis is characterized by skin rash in the form of nodules resembling millet seeds, and can meet the huge neoplasms.The surface of these spots or knots smooth and shiny, but dense to the touch.They can be arranged in the form of single and multiple elements on the chin, cheeks, nose and wings of nasolabial triangle.This type is characterized by bliteralno-symmetrical arrangement.A rash are pale yellow and pink-red color.But if you are attached to the angiofibroma telangiectasia, their red color intensifies.Histological evidence suggests that these tumors are sverhuvelichennye vessels, fibrous tissue that has grown to more immature hair follicles.In children with such symptoms, tuberous sclerosis is much more common up to 11 years starting from the age of three.

Land rough and tough skin, called "shagreen skin" presented in the form of locally expressed gamartrom clusters that merge in a great spot.Such spots are slightly above the skin surface and are pink, brown and yellow color, but by external data resemble an orange peel.Localization of these areas is often the lumbosacral region.For shagreen characteristic asymmetrical arrangement, and its size can range from 1 mm to 10 cm. In the main symptom of a tuberous sclerosis occurs after ten years.

25% of patients can find a symptom of skin tuberous sclerosis pathognomonic character called fibrous plaque.Typically, the color beige, they are rough to the touch, but appears to the first year of life.Fibrous plaques are considered to be the first clinical symptom of tuberous sclerosis in children.But basically the skin manifestations are characteristic of more mature age.They are located in the area of ​​unilateral forehead and head on her hairy part.

Thirty percent of patients with tuberous sclerosis have fibroids in the form of single or multiple soft tumors on the legs in the form of bags, which are located on the trunk, neck and limbs.Sometimes soft fibroma very small size and resemble goose bumps.

Also, there are tumors that are located on the fingers around the nail or under the nail plate in the form of faint and red skin nodules.They are much more likely to occur among women in the toes.The size of fibroids may reach 10mm.This symptom of tuberous sclerosis, also called tumor Cohen, formed after puberty and is seen in 50% of patients.Such remote education can then again progress.

The second main feature of the clinical picture of tuberous sclerosis is a central nervous system lesions in the form of its tubersov and subependymal sites.These tumors, lying on the surface of the brain, lead to the development of hydrocephalus.Tubersy regarded as hamartomas, which are shown single and multiple projections.

Timely diagnosis of hamartomas in the cerebral cortex is an important aspect for the further forecast tuberous sclerosis.

Subependymal nodes identified in surveys on CT or MRI of the brain and are localized in the ventricles with multiple fit.A common clinical presentation of this type are a visual impairment, a headache and vomiting.

When CNS lesions observed epilepsy, mental, developmental delays, and behavioral disorders and sleep-wake cycle.Exceptions are forms of tuberous sclerosis with obliterated clinical symptoms for which there are no epileptic crises and mental retardation.

epileptic seizures - is a significant symptom of tuberous sclerosis, and is seen in 90% of patients.These attacks can lead to a breach of intelligence and become a major cause of disability children.Epileptic seizures occur immediately, in the first year of a child's life.Very often in this period take place simultaneously with West syndrome and Lennox-Gastaut syndrome.But the main clinic of the disease is characterized by underdeveloped spasms, seizures somatornymi, possible secondary nature of the clonic seizures.

Mental retardation when tuberous sclerosis, which is manifested in 50% of patients may be mild or profound forms.

To change the behavior characteristic of autism, aggression or autoaggression, hyperactivity, in which manifested attention deficit disorder.

for tuberous sclerosis characteristic pattern of delay and mental retardation, and speech.Children become unhappy, moody, their growing reaction of the explosive.They become very sluggish and lose their communication skills.The earlier tuberous sclerosis in children, the more serious manifestations of mental retardation.For patients with a diagnosis of sleep disorders is a long period of falling asleep, frequent awakenings very, somnambulism and insomnia.

the part of the authorities of the clinical picture is divided into retinal symptoms and neretinalnye.This tumor (fakomy) are located close to the optic nerve, but sometimes on the retina that causes progressive visual loss.

Neretinalnye eye symptoms occur when tuberous sclerosis tumors century, changes in the iris, cataract, homonymous hemianopsia, strabismus, sixth nerve palsy.

When tuberous sclerosis occurs failure of multiple organs.Primarily affect the heart, variable rhabdomyomas.It does not cause cardiac disorders, but these tumors are observed frequently vnuriutrobnaya fetal death or birth of a child with a low Apgar scores.These children are always pronounced symptom of cyanosis.In the younger age bugged tachycardia due to cardiac arrhythmias.

After 30 years of pathological change and exposed to light.It appears respiratory failure and pneumothorax, and rengenogramme define cystic formation in the lung.

When tuberous sclerosis bodies of the gastrointestinal tract are the pathological process in a wide variety.This mouth, liver and rectum.Even the violation occurs in the enamel of the teeth, with the characteristic grooves.

renal pathology in tuberous sclerosis occurs in 85% of cases and occurs at virtually asymptomatic angiomyolipoma.It has a two-way or multiple localization.Renal tumors 4 cm in size cause spontaneous bleeding, which is characterized by abdominal pain, severe hypotension, protruding cold sweat, anemia and possible hematuria.Angiomyolipoma very often leads to chronic renal failure.Frequent symptoms of tuberous sclerosis are kidney cysts manifest violation of the outflow of urine, increased blood pressure, and rarely - bleeding.

Changes in the skeleton are determined only at the time of X-ray studies.In these patients, detect bone defects of the skull, pelvis and extremities.

Tuberous sclerosis treatment

Today heal the sick from tuberous sclerosis is almost impossible.The only treatment is still providing symptomatic relief.

To treat seizures babies prescribe corticosteroids.If after applying nitrazepama, clonazepam fails to stop the seizures successfully, may slow the process of mental retardation.

Older children used Karbomazepin, Sodium Valproate, Fenitonin and Acetazolamide reduces the frequency of seizures, sometimes even leading to their termination.

in hydrocephalus patients carried out an operation in a bypass.

Patients who saved intelligence, experience severe discomfort in the facial symptoms (skin defects).In such cases, a dermatoabaraziya, although it can not be excluded after a relapse.Therefore, currently a positive result is achieved through the use of an argon laser.

Emerging stop bleeding kidney nephrectomy.A successful kidney cysts punctured.

heart failure caused by rhabdom, treat therapeutic drugs.

When lung lesions appointed by progesterone.

All the problems that integrate mental retardation and physical defects are corrected by clinical psychologists.

tuberous sclerosis is one of the diseases with a poor prognosis for life.Basically it causes death and life expectancy at this complex pathology does not exceed five.

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