Congenital ichthyosis – heterogeneous group of hereditary diseases of which mutations of the genes which are responsible for the correct development of skin are characteristic specific defeats terms and other system pathologies are a consequence of what. The main symptoms – the centers of the strengthened skin peeling, formation of dense scales with painful grooves between them, tendency to a giperpireksiya, system damage of internals, defects of the person. The congenital ichthyosis is diagnosed clinically, is confirmed by results of a biopsy of skin. In treatment medicines of retinoid and a keratolitika are used, nonspecific therapy is also carried out.
Congenital ichthyosis – the hereditary dermatosis which is characterized by violation of processes of an orogoveniye. Robert Willan in 1808 gave the exact description of a disease, the term "ichthyosis" is offered by V. Vilson in 1852 and is used now. Frequency of occurrence of a congenital ichthyosis varies depending on a form of a disease and averages 1:2000 for a simple ichthyosis, 1:4000 for the H-linked ichthyosis, 1:100000 for an epidermolitichesky ichthyosis, 1:300000 for a lamellyarny ichthyosis. Sexual distinctions are not revealed, except the H-linked form of a congenital ichthyosis which is diagnosed only for boys. Relevance of a problem in pediatrics is connected with often overdue diagnostics and temporary effect of treatment. A congenital ichthyosis – one of the reasons of children's disability.
Reasons of a congenital ichthyosis
The congenital ichthyosis is always a consequence of mutations in the genes which are responsible for the correct development of an epithelium. The mutating genes pass from father to son, that is the disease is inherited. Primary reasons of mutations are authentically unknown, but can be connected with teratogenny factors and factors of the external environment. A simple and epidermolitichesky ichthyosis are inherited on autosomno-prepotent type, lamellyarny – on autosomno-recessive type. At the H-linked ichthyosis the mutation occurs in the gene linked to a sexual chromosome, the inheritance mechanism recessive.
In case of a simple ichthyosis synthesis of a filaggrin – a squirrel, responsible for compound of threads of a keratin among themselves is broken. The keratin promotes moisture deduction by skin, and in this case this its function is broken. The H-linked congenital ichthyosis is characterized by insufficiency of a sterolsulfataza owing to what keratinotsita are the subject skin layers which are strongly connected with in view of what their timely rejection is broken. The Lamellyarny ichthyosis is connected with insufficiency transglutamineelements-1 which takes part in an orogoveniye of covers of cells of skin, and accelerated promotion of keratinotsit to the surface of skin, that is their bystry change. Extensive inflammatory processes, violations of thermal control and high risk of secondary infections are a consequence.
At the heart of an epidermolitichesky ichthyosis – violation of synthesis of a keratin because of what cells of skin become unstable. It promotes formation of the bullous bubbles characteristic of it like a congenital ichthyosis. Seldom found ichthyosis of a fruit develops vnutriutrobno and is caused by violation of transport of lipids owing to what barrier function of skin is broken.
Classification of a congenital ichthyosis
There are several classifications of a disease by various signs. Depending on inheritance type the congenital ichthyosis can be:
- Autosomno-dominantnym (simple and epidermolitichesky ichthyosis);
- Autosomno-retsessivnym (lamellyarny ichthyosis, fruit ichthyosis);
- H-linked (The H-linked ichthyosis).
The conditions necessary for display of a disease differ. The first two types are not connected with a floor, the mutating gene has to be presented in a prepotent and recessive form respectively. The H-linked ichthyosis is inherited retsessivno, shown at boys while girls are mutation carriers.
Clinically allocate the following types of a congenital ichthyosis: idle time (vulgar), lamellyarny, H-linked, epidermolitichesky, a fruit ichthyosis. Depending on weight of clinical manifestations the ichthyosis can be heavy, average weight and late (it is shown not right after the birth). The congenital ichthyosis can be not only an independent disease, also it is present at structure of some syndromes, such as Neterson's syndrome, Refsum's syndrome, a syndrome Ore, Shegrena-Larsson's syndrome and some other. Also there are ikhtioziformny diseases, for example, hypovitaminosis And, a senile ichthyosis, etc. In these cases the clinic is similar, but the reasons others.
Symptoms of a congenital ichthyosis
The symptomatology directly depends on a disease form. In clinic of a simple ichthyosis the expressed dryness of skin and a peeling always takes place. Zones of defeat settle down on the razgibatelny surfaces of joints, especially legs. The person remains untouched, with rare exception, when skin of a forehead and cheeks is involved in process. It is also characteristic follicular – a keratin congestion in follicles of hair. Arises almost on all surface of skin where hair grow. It is found at a palpation in the form of a so-called symptom of "grater". Skin on palms and soles is thickened, the skin drawing is strengthened, grooves between sites of the thickened skin are allocated. At patients decrease in sweating is noted that is the reason of a frequent hyperthermia.
The main symptoms of a congenital ichthyosis are shown from 3-12 months of life of the child. The skin peeling is often practically leveled by 20-25 years. At the same time there are diseases of change of palms and soles, characteristic of this form. Often congenital ichthyosis of this type is followed by allergic diseases in the form of rhinitis, a small tortoiseshell, bronchial asthma. Damage of digestive tract is in most cases characteristic: gastritis, colitis, dyskinesia of bilious ways, gepatosplenomegaliya. At the cellular level of change are identical to that in cells of skin.
The H-linked congenital ichthyosis is shown in the first months of life and only at boys. Characteristic damage of skin – large, dirty-brown color of a scale without peeling. Localization of similar sites can be practically any, except area of palms and feet. Such color of scales is caused by high concentration of melanin in the lower layers of epidermis. From other signs specific turbidity of a cornea in the form of a flower without influence on visual acuity often is found. The kriptorkhizm is diagnosed for the fifth part of patients. Unlike a simple ichthyosis, damage of skin at this type of a disease practically do not decrease with age.
The Lamellyarny ichthyosis is shown since the birth. Skin of the newborn is covered with a thin, but dense film - it is a patognomonichny symptom of a congenital ichthyosis of this type. Gradually the film is transformed to large thick scales from light till brown color. Owing to obstruction of sweat glands sweating therefore the giperpireksiya is often observed is broken. On palms and soles – deep cracks and a keratodermiya. Grooves between scales are painful and are gate for a secondary bacterial infection, including sepsis. The Lamellyarny congenital ichthyosis is followed by defects of development: the century () and lips (), deformation or lack of auricles, deformation of cartilages of a nose, an union of phalanxes of fingers or lack of trailer phalanxes, etc. is often noted an eversion.
The Epidermolitichesky congenital ichthyosis is shown by an extensive damp eritrodermiya with formation of bullous bubbles. On the place of opening of bubbles there are erosion which completely pass. Over time the rough orogoveniye joins, warts are often formed. The horny scales dark, with an unpleasant smell (a consequence of a secondary infection). Mucous membranes at this type of a congenital ichthyosis are not surprised, sweating is also not broken. Nevertheless, this form of a disease is very dangerous and can be followed by death.
The congenital ichthyosis of a fruit – the most rare form of a disease, develops vnutriutrobno on 16-20 week of pregnancy. Children are born premature, skin reminds them an armor which soon bursts with formation of large lamellar scales, is more often than dark. Almost total absence of hair on the head, a keratodermiya of palms and soles is characteristic. Because of a strong orogoveniye of face skin of companies it is constantly open, are expressed and , auricles are deformed. At a congenital ichthyosis of a fruit neurotouch relative deafness is often diagnosed. The reduced immunity promotes development of bacterial infections in the first days of life; often otitises, pneumonia, hypodermic abscesses meet. Mortality in the first days and weeks of life is high.
Diagnostics of a congenital ichthyosis
During pregnancy for the purpose of diagnostics it is possible to use amniocentesis with the subsequent analysis of amniotic liquid, and also a biopsy a horiona. However invasive methods increase risk of spontaneous termination of pregnancy therefore in practice are used extremely seldom. The indication for a prenatal biopsy is the burdened anamnesis on a congenital ichthyosis. Ultrasonography in the III trimester allows to diagnose a fruit ichthyosis. The fixed position of hands and an open mouth is noticeable, it is possible to see a hypoplasia of nasal cartilages and nonspecific signs in the form of abundance of water and the raised ekhogennost of amniotic liquid. Other forms of a congenital ichthyosis can only be suspected.
After the child's birth the diagnosis is made by the pediatrician, first of all, on the basis of the clinical symptoms characteristic of a congenital ichthyosis. This specific peeling of skin, localization of affected areas, a symptom of "grater" at a simple ichthyosis, the expressed eritrodermiya at an epidermolitichesky ichthyosis, etc. Changes in analyses are not specific, but can reveal allergic processes (often accompany an ichthyosis), the high level of cholesterol and at the same time reduced level of an estriol in blood (at the H-linked ichthyosis). The anamnesis of parents matters: the cases of a congenital ichthyosis revealed before, including its syndromic forms.
Often clinical picture of a disease is not specific therefore performing differential diagnostics is obligatory. It is necessary to exclude the acquired ichthyosis forms, a dermatosis (psoriasis, eczema, contact dermatitis, congenital syphilis, etc.), atopic dermatitis. So, existence of inflammatory process, an itch, eczema, etc. is characteristic of dermatitis. However often congenital ichthyosis is also followed by dermatitis. A dermatosis has the patognomonichny symptoms which are absent at an ichthyosis, for example, Getchinson's teeth at congenital syphilis, specific papules with favourite localization at psoriasis etc. The acquired forms of an ichthyosis develop owing to autoimmune, infectious diseases, tumors, etc., in this case it is necessary to look for the reason capable to cause pathology after the birth.
Treatment of a congenital ichthyosis
Treatment of a disease is carried out in a hospital, in case of severe forms of a congenital ichthyosis – in intensive care unit. Indoors high humidity and the lowered air temperature has to be maintained. The hypoallergenic diet, in hard cases – food via the probe is usually shown. It is recommended to take baths from 2 times a day. It allows to moisten skin, to reduce a peeling and to carry out prevention of secondary infections. In case of an epidermolitichesky congenital ichthyosis during bathing antiseptics is often used. After bathing, as a rule, carry out mechanical peeling with the subsequent putting the moisturizing cream.
System therapy of a congenital ichthyosis is applied by medicines of vitamin A and a retinoidama which facilitate peeling of the horny cages and reduce the speed of proliferation of cages, otherwise, slow down their strengthened growth. Besides, retinoida have anti-inflammatory and immunomodulatory effect. In pediatric practice it is used , now. High clinical efficiency of these medicines, however effect of treatment temporary is obvious, and therapy is carried out by courses in view of a set of side effects: dryness and bleeding mucous, , violations of functions of a liver, photosensitization of skin and high light sensitivity, etc.
Blockers of metabolism of retinoyevy acid, for example, belong to modern medicines. At treatment the same clinical effect is noted, but safety is much higher. The basis of external therapy of a congenital ichthyosis is made by keratolitik: solutions of chloride of sodium and urea, , salicylic acid, topichesky retinoida. Means are applied on affected areas of skin and have local effect, promoting peeling, mitigation of skin, reduction of an inflammation, etc. At purpose of keratolitik it is necessary to consider age of the child as some of them (urea, salicylic acid) are toxic for children of the first year of life.
In treatment of severe forms of a congenital ichthyosis system corticosteroids, immunoglobulins, and also antibiotics in case of need are applied. Consultation of the children's ophthalmologist at diagnostics of an ektropion, the children's otorhinolaryngologist – at deformation and lack of an auricle, and also for diagnostics and treatment of a hearing disorder, in particular is obligatory for neurotouch relative deafness. At sindromalny forms the congenital ichthyosis is often accompanied by neurologic violations, in these cases consultation of the children's neurologist is obligatory. Also the geneticist for planning of the subsequent pregnancies and calculation of probability of a disease at future generations is connected to treatment.
Forecast and prevention of a congenital ichthyosis
The forecast depends on a disease form. Clinical manifestations of a simple ichthyosis are minimized after 20-25 years, however quality of life all the same decreases because of existence of system pathologies of digestive tract. Severe forms of a congenital ichthyosis often are a cause of death and children's disability.
Genetic consultation – the only way of prevention of a congenital ichthyosis. It is necessary to plan pregnancy in case of the burdened anamnesis on this disease, that is if one and the more so both parents are sick, or someone from them is the mutation carrier. In this case the refusal of pregnancy is recommended, but anyway finally the decision is made by a family. As the option, is offered to couples EKO and adoption.