Tuberous sclerosis
Bournville's disease
This syndrome is characterized by complex genetic traits and is genetically transmitted in the normal form.
Three characteristic traits of disease are:
- Epileptic seizures.
- Mental retardation.
Sebaceous gland tumor (adenomasa beshim).
Distinctive skin manifestations:
Fibroids that appear in the form of red or waxy pimples, the size of the head of the pin is symmetrical on the face.
Although the disease may be associated with neurofibromatosis, each has its own special characteristics.
Clinical manifestations:
Featured manifestations of the syndrome:
Skin manifestations: Skin symptoms appear in more than half of the cases and are in four forms:
1 vascular fibroids (angiofibroma): usually cleansed after puberty.
2 pustules or blood clots accumulated or expanding capillaries. Red blisters are sparsely different and different sizes of 1-10 mm appear on the chin cheeks and sometimes on the ears. Their numbers may increase and sometimes accumulate.
3 patches are vacant: the plaques are soft skin color, slightly elevated irregularly thick, usually found in the area of lumbar cotton.
4 White smears: 13mm in length, oval or leafy, most commonly seen by the Wood scan, usually seen on the trunk or limbs, is a valuable physical marker, which may be present at birth or early babyhood, showing several years before signs Other diseases may indicate accurate diagnosis in infants with convulsions.
Other skin manifestations include:
- Special fibrous plaques on the forehead and scalp.
- Soft fibrous fibroids may appear around the neck, armpits and hair color may change and gray appears early.
The manifestations of mucous membranes:
Oral papillomavirus on the gums and other parts of the mouth and nose.
Fibroids sometimes found on the gums, palate and are rarely found on the tongue, pharynx and larynx.
Dental manifestations:
- A small tooth drill may commonly appear on the dental port in adults, and these drillings are less visible in the lumbar teeth and are used as an early recognizable marker in children with scleroderma.
Nail manifestations:
- Fibroids under the nails and tumors of the nail, called tumors of the "Koenen" as they appear in the form of tumors of the pigmented shape prominent and cause no symptoms.
Neural manifestations:
Epilepsy: It may appear early in childhood.
- Mental retardation usually occurs early during the infancy.
- Psychological symptoms include schizophrenia.
Bone changes: necrosis or indigestion in long bones and skull with false bags.
- In situ changes: retinal tumors.
Other features:
- Kidney tumors in the form of (tumors tumors) Hamaratomat.
- Cardiac tumors such as planned muscle tumor.
Pneumonia:
These changes are rare and rarely cause symptoms, but if they are common, they may cause progressive respiratory distress and frequent chest rest.
Gastrointestinal tumors:
- These are usually colorectal cysts (Hamartomat) and therefore should be performed colonoscopy in the survey of patients with sclerosis.
Endothelial manifestations:
- Other endocrine and metabolic disorders are the most common ones, namely, adrenal pituitary dysplasia, disturbances of puberty and delayed puberty.
- Topical localized size and skin retinal tissue disease.
Radiological phenomena:
- Skull: calcification is observed in the form of a simple capsule in about 50% of the patients, which usually appear only after late childhood or puberty.
- CT scan The typical CT scan consists of calcified nodules around the cerebral ventricles and protrudes to the lateral ventricles.
- Magnetic resonance imaging is more sensitive to the appearance of parenchymal lesions. The lesions around the brain's ventricles may not notice in principle and may progress to calcified lesions over time.
Hands and feet:
- Pelvic lesions in salts, irregular thickness in the crust of combs, vertebrae, pelvis or long bones.
Lungs:
- There may be an irregular network view in the pulmonary tissue. It can not be radically distinguished from other forms of interstitial fibrosis.
Treatment methods:
- No quality treatment available. Transient treatment of infected organs.
Bournville's disease
This syndrome is characterized by complex genetic traits and is genetically transmitted in the normal form.
Three characteristic traits of disease are:
- Epileptic seizures.
- Mental retardation.
Sebaceous gland tumor (adenomasa beshim).
Distinctive skin manifestations:
Fibroids that appear in the form of red or waxy pimples, the size of the head of the pin is symmetrical on the face.
Although the disease may be associated with neurofibromatosis, each has its own special characteristics.
Clinical manifestations:
Featured manifestations of the syndrome:
Skin manifestations: Skin symptoms appear in more than half of the cases and are in four forms:
1 vascular fibroids (angiofibroma): usually cleansed after puberty.
2 pustules or blood clots accumulated or expanding capillaries. Red blisters are sparsely different and different sizes of 1-10 mm appear on the chin cheeks and sometimes on the ears. Their numbers may increase and sometimes accumulate.
3 patches are vacant: the plaques are soft skin color, slightly elevated irregularly thick, usually found in the area of lumbar cotton.
4 White smears: 13mm in length, oval or leafy, most commonly seen by the Wood scan, usually seen on the trunk or limbs, is a valuable physical marker, which may be present at birth or early babyhood, showing several years before signs Other diseases may indicate accurate diagnosis in infants with convulsions.
Other skin manifestations include:
- Special fibrous plaques on the forehead and scalp.
- Soft fibrous fibroids may appear around the neck, armpits and hair color may change and gray appears early.
The manifestations of mucous membranes:
Oral papillomavirus on the gums and other parts of the mouth and nose.
Fibroids sometimes found on the gums, palate and are rarely found on the tongue, pharynx and larynx.
Dental manifestations:
- A small tooth drill may commonly appear on the dental port in adults, and these drillings are less visible in the lumbar teeth and are used as an early recognizable marker in children with scleroderma.
Nail manifestations:
- Fibroids under the nails and tumors of the nail, called tumors of the "Koenen" as they appear in the form of tumors of the pigmented shape prominent and cause no symptoms.
Neural manifestations:
Epilepsy: It may appear early in childhood.
- Mental retardation usually occurs early during the infancy.
- Psychological symptoms include schizophrenia.
Bone changes: necrosis or indigestion in long bones and skull with false bags.
- In situ changes: retinal tumors.
Other features:
- Kidney tumors in the form of (tumors tumors) Hamaratomat.
- Cardiac tumors such as planned muscle tumor.
Pneumonia:
These changes are rare and rarely cause symptoms, but if they are common, they may cause progressive respiratory distress and frequent chest rest.
Gastrointestinal tumors:
- These are usually colorectal cysts (Hamartomat) and therefore should be performed colonoscopy in the survey of patients with sclerosis.
Endothelial manifestations:
- Other endocrine and metabolic disorders are the most common ones, namely, adrenal pituitary dysplasia, disturbances of puberty and delayed puberty.
- Topical localized size and skin retinal tissue disease.
Radiological phenomena:
- Skull: calcification is observed in the form of a simple capsule in about 50% of the patients, which usually appear only after late childhood or puberty.
- CT scan The typical CT scan consists of calcified nodules around the cerebral ventricles and protrudes to the lateral ventricles.
- Magnetic resonance imaging is more sensitive to the appearance of parenchymal lesions. The lesions around the brain's ventricles may not notice in principle and may progress to calcified lesions over time.
Hands and feet:
- Pelvic lesions in salts, irregular thickness in the crust of combs, vertebrae, pelvis or long bones.
Lungs:
- There may be an irregular network view in the pulmonary tissue. It can not be radically distinguished from other forms of interstitial fibrosis.
Treatment methods:
- No quality treatment available. Transient treatment of infected organs.