Genetic diseases



hamartoma photo hamartoma (Gr. "Hamartia" - error) - the result of occurrence of a pathological process in the tissue of a healthy body.Hamartoma is a tumor nodules with poorly expressed on the surface of the tuberosity.They consist of the same tissue, where it has developed a benign tumor. difference tissues that make up the tumors, in the wrong location in the affected organ and the degree of differentiation.

Most often affects the lungs and the hypothalamus, is not excluded hamartoma of the liver, kidney, breast hamartoma.Sizes may vary tumors (0.5-5 cm), they generally do not tend to increase rapidly.However, in the absence of treatment, hamartoma is able to develop into cancerous tumor.

hamartoma reasons

Hamartomas occur without visible symptoms and are found at random X-ray examination for the presence of an entirely different disease, as symptoms hamartomas is similar to that in other diseases.

risk group includes people 30-40 years old, while women are less prone to the emergence of t

he disease process as opposed to the male population (of cases of men in 2-4 times more).Hamartoma in newborns can be detected by its innate nature.

The main reasons for the development of hamartomas are:

- violation of histogenesis and organogenesis in the embryonic development (congenital hamartomas);

- swelling as a result of the inflammatory process, which takes place during the emergence and growth of replacement tissue in abnormal amounts;

- in childhood such tumors can arise as a result of the injuries of the lungs, head, or after various infectious diseases that contribute to the emergence of immunodeficiency;

- damaged lung tissue;

- getting infection in the lower parts of the respiratory system;

- genetic predisposition;

- different gene mutations, which normally flow is unacceptable;

- detrimental effects of tobacco smoke, chemical substances and radioactive nature, into the soil, air, water and thereby contaminating the environment.Such substances include formaldehyde, vinyl chloride, UV radiation, radioactive isotopes, etc .;

- flow bronchopulmonary processes with decreasing immunity: the presence of asthma, chronic bronchitis, frequent pneumonia, tuberculosis and others.

presence of any of the above factors greatly increase the risk of hamartomas.

hamartoma symptoms

There are single and multiple forms of hamartomas.Also depending on the predominant type of fabric composed hamartomas are the following neoplasms:

- hondromatoma (tumor largely localized cartilage);

- fibromatoma (the predominant tissue is the fibrous tumor most commonly located in the subcutaneous tissue);

- lipomatoma (as part of this form of hamartoma - adipose tissue);

- angiomatoma (detected in the bloodstream);

- leyomiomatoma.

In most cases, the presence of hamartomas in humans is asymptomatic.Finding hamartomas occurs randomly during fluoroscopy or X-ray inspection body where the tumor is located this.

hamartomas X-ray picture is similar to other diseases, so accurate diagnosis should be more research.On radiographs hamartoma appears as a rounded shadow with sharp contours, sometimes on her background can be detected focal calcification.

Over time, the size of the tumor usually remains unchanged, however, with the growth it can cause the patient discomfort in the affected organ.Hamartoma precise diagnosis is possible by biopsy if the tumor was found in the lung, or bronchoscopy and biopsy in case of endobronchial hamartoma.

With the development of lung hamartoma symptoms may include:

- hypoventilation of the affected lung department;

- ateliktaz corresponding lung and development of obstructive pneumonia;

- the emergence of hemoptysis in the case of the destruction of bronchial wall, then turn into malignant hamartomas stage;

- pain in the chest area, dry cough;

- wet cough with phlegm, discomfort.

In general, the condition of the patient in this disease for a long time to maintain good.

often a hamartoma of the brain, namely the hypothalamic hamartoma.The flow of hamartomas in such a case is possible if:

- seizures (complex partial, of generalized);

- epileptic fits of laughter;

- cognitive disorders: disorders of attention, memory, the digestibility of the material in the course of training, lack of perseverance, the presence of abnormalities in human behavior.Most often detected in children, in adults such symptoms are not as pronounced;

- emotional disorders (depression, attention deficit disorder, autism, obsessive-compulsive syndrome).In children, in some cases revealed uncontrolled aggression;

- disturbances in the functioning of the endocrine system.This is due to the fact that the hypothalamus is involved in the control of various organs;

- early puberty, which is possible without the presence of seizures and other neurological disorders.

In the case of breast hamartomas of the disease and is asymptomatic.The density of tumors depends on the ratio in which the fibrous, fat, glandular tissue.Hence diagnose breast hamartoma can palpation, during which revealed dense and mobile education.To study the tumor can help mammography (on a mammogram, it is well delineated by the presence of a thin, rentgennegativnoy line around the entire education or part of it).US in this situation, it may be useless as hamartomas often not recognized in this method of inspection.

Hamartomas develop in the liver, with the defeat of exposed most of her left lobe.For hamartomas of the liver characterized by:

- rapid or gradual increase in the stomach for no apparent reason;

- irregularities in the process of respiration, vomiting;

- a feeling of heaviness in the stomach, nausea.This is due to liver hamartoma pressure on the adjacent organs of the abdominal cavity;

- pain, digestive disorders;

- portal hypertension and ascites as a result of pressure in the portal vein hamartomas.

Find hamartoma of the liver during its increase and has already developed symptoms.In the initial stages of the hamartomas do not differ from healthy liver parenchyma.Ehotomografiya densitometry and then useless, but arteriography is capable of detecting a tumor because of its hypervascularization.

hypothalamic hamartoma

different hamartomas of the brain are quite dangerous for human health, since the brain - the head of all the processes of the body.The hypothalamus (diencephalon department) most vulnerable to the hamartomas in it.Although the size of this part of the brain is small, it is a sophisticated structure.

controlled by the hypothalamus are many endocrine glands (pituitary, sex glands, thyroid gland, pancreas, adrenal glands, and so on.), Which have, in turn, impact on the constancy of the internal environment.Disturbances in the functioning of the hypothalamus also lead to a variety of endocrine abnormalities.Hypothalamic hamartoma

may develop a benign tumor corresponding to the morphological classification of gangliocytomas - tumor consisting of nerve elements sympathetic ganglia.

hypothalamic hamartomas diagnosis, as the treatment of this disease is complex because of the location of the tumor and is based on the following survey methods:

- neurological examination (assessed neurological function: the sensitivity of the skin, the vestibular apparatus, the reflexes, the functional state of the cerebellum)

- analysis on hormones;

- study of secondary sexual characteristics for premature ripening;

- the use of imaging techniques.These methods include computed tomography (CT) and magnetic resonance imaging (MRI).The physician receives the application of any of these methods of cross-sectional images, from which it is possible to determine the size tumors, its location in the brain, structure and shape.Experts believe that MRI is more informative method of examination of patients than CT due to the use of magnetic fields instead of x-rays.

lung hamartoma

hamartoma of lung - neoplasm with elements of the bronchial wall and lung parenchyma in its composition.The incidence of lung hamartomas from 0.25% to 0.4%.

Basically, hamartoma is composed of cartilage (hondrogamartoma), but there may be a tumor in other tissues of lung (fat - lipogamartoma, fibrous - fibrogamartoma).

lung hamartoma is characterized by a rounded shape, smooth and sharp edges.Changes in lung tissue surrounding the tumor, and the root of light available.

Typically, tumor formation located in the interior of the affected lung parenchyma (intrapulmonary) near the visceral pleura or on its surface (subpleural).The small size of hamartomas do not cause disturbances in the functioning of the lungs.Rare cases of hamartoma is the location within the segmental, subsegmental bronchi.In this case, hamartomas can cause lung hypoventilation or atelectasis.

help in the diagnosis of hamartoma:

- a visit to a therapist, pulmonology, neonatology;

- radiography lungs;

- appointment of biopsy;

- bronchoscopy.

The diagnosis is possible only after the x-rays or X-ray light.We also need differential diagnosis of hamartoma with peripheral cancer, bronchogenic cyst, hydatid cyst, limited fibrosis, chronic abscess.It should be noted that long-term observation of the patient is unsafe.

Indications for surgery are unclear at diagnosis for its refinement, radical removal of tumor formation.The operation itself is husking neoplasm of the lung tissue and later suturing.Rarely performed wedge resection (removal of the tumor and a number of underlying tissue), segmentoektomiya, lobectomy.

Regarding the treatment of lung hamartoma should consult your doctor: the oncologist;radiologist;thoracic surgery;pulmonologist.

hamartoma treated

To date, several methods used in the treatment of the disease, depending on the location of the tumor.Upon detection of hamartomas of the brain, kidney, lung surgery are usually applied.If there are contraindications to surgery, patient follow-up is recommended.

When hamartoma of lung patient should undergo regular examinations if there is no increase in tumors or other complications.If any, the patients underwent surgery to remove a hamartoma.Surgery may be:

- thoracotomy (husking tumor tissue from the lung);

- fibrobronchoscopy (endobronchial hamartoma);

- husking using VATS procedures (presence of a tumor in the subpleural region).

hypothalamic hamartoma Treatment includes:

- drug therapy (the use of anticonvulsants).It serves as a symptomatic treatment, removing only the symptoms of the disease;

- surgery (to remove the tumor surgically).In turn, the choice of surgery is done in accordance with the characteristics of the patient, the presence of the risk of post-operative complications;

- radiation therapy, and increasingly - radiosurgery (occurs at high risk of surgical treatment, as well as the inaccessibility of the tumor).Radiation therapy involves technology Gamma Knife, Novalis, cyber knife.Radiosurgery, unlike the radiation therapy is noninvasive technology essence - irradiation hamartoma low dose of radiation, along with using CT or MRI to control the direction of the beam of radiation.The soft tissue around the tumor exposed to harmless radiation doses, whereas tumor cells accumulate radiation, which is why the effect of radiation on them much stronger.

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