The ichthyosis is the hereditary disease of skin proceeding as a dermatosis. It is characterized by diffusion violation of an orogoveniye and shown in the form of scales on skin which remind fish scales. The main reason for an ichthyosis is a gene mutation which descended biochemistry is not deciphered yet. Violations of proteinaceous exchange when in blood amino acids collect and violations of fatty exchange which are shown by the increased content of cholesterol are the main manifestation of a gene mutation which leads to an ichthyosis.
The ichthyosis is the hereditary disease of skin proceeding as a dermatosis. It is characterized by diffusion violation of an orogoveniye and shown in the form of scales on skin which remind fish scales.
Reasons and mechanism of development of an ichthyosis
The main reason for an ichthyosis is a gene mutation which descended biochemistry is not deciphered yet. Violations of proteinaceous exchange when in blood amino acids collect and violations of fatty exchange which are shown by the increased content of cholesterol are the main manifestation of a gene mutation which leads to an ichthyosis.
All processes of a metabolism decrease, thermal control of an organism is broken, and activity of enzymes in oxidizing processes of skin breath on the contrary amplifies. At patients with a gene mutation which is the reason of an ichthyosis gradually accrue or there is a decrease of the activity of a thyroid gland, adrenal glands and gonads at once, deficiency of humoral and cellular immunity increases. Violation of digestion of vitamin A together with the reduced functions of sweat glands is also led to violation of an orogoveniye of skin towards a giperkeratoz as there is excess production of a keratin to the changed structure that together with delay of process of rejection of the horny layer of epidermis and causes manifestations of an ichthyosis. At an ichthyosis between scales amino-acid complexes which possess the cementing action therefore scales are densely linked among themselves accumulate, and their separation from a body is sharply painful.
Clinical manifestations of an ichthyosis
The ordinary or vulgar ichthyosis is shown aged up to three years, but usually it is diagnosed till third month of life. It is the most common form of an ichthyosis inherited on autosomno-prepotent type. At first skin becomes dry and rough, then becomes covered small whitish or gray-black scales skintight to each other. At an ichthyosis the area of elbow bends, popliteal poles, area of axillary hollows and an inguinal zone are not surprised.
On palms there is a mukoidny peeling, the skin drawing becomes pronounced. Weight of a current of an ichthyosis depends on that, the gene mutation, perhaps abortive current when the only manifestation of an ichthyosis is dryness and a small peeling of skin on razgibatelny surfaces is how deep.
At an ichthyosis hair, teeth and nails are exposed to dystrophic changes. A dry brittle hair is characteristic, nails break off and stratified, multiple caries joins. Quite often the ichthyosis is followed by damage of eyes – chronic conjunctivitis and retinita. Patients with an ichthyosis have hereditary predisposition to short-sightedness which begins to be shown in the childhood. As immunity is reduced, allergic diseases and purulent infections have constant character. Later violations in work of internals join, cardiovascular insufficiency and diseases of a liver is most often noted.
The recessive ichthyosis occurs only at males though it is inherited on the H-chromosome and differs in the fact that is a cause of illness defect of placentary enzymes. Clinical manifestations appear on the second weeks of life, is more rare right after the birth. Horn stratifications of skin look as large dense scales of black-brown color and remind guards. Skin between scales is covered with cracks therefore it is externally similar to leather of a crocodile or snake. At children with a recessive ichthyosis intellectual backwardness, anomalies in a skeleton structure, epilepsy is often observed. The juvenile cataract and a gipogonadizm meet in 10-12% of cases.
The congenital ichthyosis develops vnutriutrobno on 4-5 month of pregnancy. At the birth skin of the child is covered with thick horn guards of gray-black color. At a congenital ichthyosis of a scale can reach up to 1 cm in thickness, scales have the different form, smooth or jagged, skin between them is covered with furrows and cracks. Because of the dense, well linked scales the oral opening of the child either is stretched, or sharply narrowed so that hardly there passes the probe for feeding. Ear openings eyelids because of vyvorochena stretching are deformed and filled with horn scales. Practically all babies have anomalies of a skeleton – a clubfoot, a kosorukost, many children with a congenital form of an ichthyosis have interdigital crossing points on and palms, sometimes there are no nails. Pregnancy more often premature, the percent of a still birth is quite high. As there are anomalies incompatible with life, most of children with a congenital form of an ichthyosis die in the first days of life.
The Epidermolitichesky ichthyosis is one of forms of a congenital ichthyosis. Skin of the baby of bright red color, as scalded by boiled water. Nikolsky's syndrome positive as at a puzyrchatka of newborns - at an insignificant touch is observed rejection of scales of epidermis. Skin on palms and soles of white color, is considerably thickened. In certain cases at an epidermolitichesky form of an ichthyosis there can be hemorrhages in skin and mucous. It is an adverse sign if hemorrhages join, then children most often die. At easier clinical manifestations of an ichthyosis of bubbles becomes less over time, but throughout life the disease recurs in the form of flashes, at the same time during the ichthyosis recurrence temperature to high marks quite often increases. By fourth year of life on separate parts of the body there are horn stratifications in the form of thick dirty-gray scales which are localized generally in places of natural skin folds.
Quite often there are defects nervous, endocrine and other systems of an organism, for many children with a congenital ichthyosis diagnose to mental retardation later, spastic paralyzes which reason accumulation of fitanovy acid in fabrics is. Polyneuropathies, anemias, infantility complicate a current of an ichthyosis. The mortality percentage is very high because of the accompanying complications and the joined diseases.
Diagnostics of an ichthyosis
In most cases clinical manifestations are enough to diagnose an ichthyosis. At congenital forms it needs to be differentiated with an eritermodermiya and other diseases. The histologic research of skin confirms the diagnosis.
Treatment and prevention of an ichthyosis
Treatment of an ichthyosis depending on weight is carried out by the dermatologist on an outpatient basis or in a hospital. Vitamins of group A, E, B, vitamin C and nicotinic acid in high doses long repeated courses are appointed. Medicines which possess lipotropny action soften scales. These are the medicines containing and vitamin U. For stimulation of immunity plasma transfusions, gamma globulin, medicines the containing iron and calcium, and also aloe extract are shown. If there are damages of a thyroid gland with development of a hypothyroidism, then are shown , at hypofunction of a pancreas – insulin.
In hard cases and at a congenital ichthyosis appoint hormonal therapy at once if there is an eversion a century, then in eyes dig in oil solution of Retinolum of acetate. After normalization of a state the dose of hormonal medicines is slowly reduced to full cancellation. During remissions periodically conduct blood tests, for control of the general condition of the patient and prevention of development of complications. To nursing mothers reception of all vitamins, as a sick ichthyosis is shown to children.
Local therapy consists in acceptance of the general bathtubs with solution of permanganate of potassium and greasing of skin children's cream with addition of vitamin A in it. Salt and starched, general or local bathtubs depending on process localization are shown to adult patients with an ichthyosis. Add vitamin A, chloride sodium and urea to water.
UF-radiation in suberitemny doses, the tallasoterapiya and heliotherapy, resorts with sulphidic and carbonic bathtubs stimulates processes of metabolism in a term. Silt and peat mud are recommended already for stages of permission of a recurrence of an ichthyosis and as prevention. Aromatic retinoida thanks to the fact that terms restore work of cages and normalize metabolism processes, recently were widely adopted in treatment of an ichthyosis.
The forecast of an ichthyosis always adverse as even at easy forms of a disease accession of system pathologies and progressing of diseases of a metabolism lead to complications. The main prevention of an ichthyosis is consultation before pregnancy for the purpose of definition of degree of genetic risk. If the ichthyosis of a fruit is found in the analysis of amniotic liquid, then termination of pregnancy is recommended. It is better for couples at which the risk of the birth of the child with an ichthyosis is quite high to refrain from pregnancy in favor of adoption of orphan children.