Ichthyosis. Causes, symptoms, types and treatment of ichthyosis

– a heterogeneous group of hereditary diseases, which are characterized by mutations of genes responsible for the proper development of the skin, resulting in specific lesions of the dermis and other systemic pathologies. The main symptoms are areas of increased peeling of the skin, the formation of dense scales with painful grooves between them, a tendency to hyperpyrexia, systemic damage to internal organs, and facial defects. Congenital ichthyosis is diagnosed clinically and confirmed by skin biopsy results. The treatment uses retinoids and keratolytics, and nonspecific therapy is also carried out.

ICD-10

Q80

General information

Congenital ichthyosis is a hereditary dermatosis characterized by a violation of keratinization processes. An accurate description of the disease was given by Robert Willan in 1808, the term “ichthyosis” was proposed by W. Wilson in 1852 and is currently used. The incidence of congenital ichthyosis varies depending on the form of the disease and averages 1:2000 for simple ichthyosis, 1:4000 for X-linked ichthyosis, 1:100,000 for epidermolytic ichthyosis, 1:300,000 for lamellar ichthyosis. No gender differences have been identified, except for the X-linked form of congenital ichthyosis, which is diagnosed only in boys. The relevance of the problem in pediatrics is associated with often delayed diagnosis and temporary effect of treatment. Congenital ichthyosis is one of the causes of childhood disability.

Causes of congenital ichthyosis

Congenital ichthyosis is always the result of mutations in genes responsible for the proper development of the epithelium. Mutated genes are passed on from generation to generation, that is, the disease is inherited. The primary causes of the mutations themselves are not reliably known, but may be associated with teratogenic and environmental factors. Simple and epidermolytic ichthyosis are inherited in an autosomal dominant manner, while lamellar ichthyosis is inherited in an autosomal recessive manner. In X-linked ichthyosis, the mutation occurs in a gene linked to the sex chromosome; the mechanism of inheritance is recessive.

In the case of simple ichthyosis, the synthesis of filaggrin, a protein responsible for connecting keratin filaments to each other, is impaired. It is keratin that helps the skin retain moisture, and in this case this function is disrupted. X-linked congenital ichthyosis is characterized by a deficiency of sterol sulfatase, as a result of which keratinocytes are firmly associated with the underlying layers of the skin, as a result of which their timely rejection is impaired. Lamellar ichthyosis is associated with a deficiency of transglutaminase-1, which is involved in the keratinization of skin cell membranes, and the accelerated movement of keratinocytes to the surface of the skin, that is, their rapid replacement. The consequence is extensive inflammatory processes, impaired thermoregulation and a high risk of secondary infections.

Epidermolytic ichthyosis is based on a violation of keratin synthesis, which causes skin cells to become unstable. This contributes to the formation of bullous blisters, characteristic of this type of congenital ichthyosis. Rarely occurring, fetal ichthyosis develops in utero and is caused by impaired lipid transport, resulting in impaired skin barrier function.

Classification of congenital ichthyosis

There are several classifications of the disease based on various characteristics. Depending on the type of inheritance, congenital ichthyosis can be:

• Autosomal dominant (simple and epidermolytic ichthyosis);
• Autosomal recessive (lamellar ichthyosis, fetal ichthyosis);
• X-linked (X-linked ichthyosis).

The conditions necessary for the manifestation of the disease vary. The first two types are not associated with gender; the mutated gene must be presented in a dominant and recessive form, respectively. X-linked ichthyosis is inherited recessively and appears in boys, while girls are carriers of the mutation.

Clinically, the following types of congenital ichthyosis are distinguished: simple (vulgar), lamellar, X-linked, epidermolytic, fetal ichthyosis. Depending on the severity of clinical manifestations, ichthyosis can be severe, moderate, or late (does not appear immediately after birth). Congenital ichthyosis can not only be an independent disease, it is also present in the structure of some syndromes, such as Neterson syndrome, Refsum syndrome, Rood syndrome, Sjögren-Larsson syndrome and some others. There are also ichthyosiform diseases, for example, hypovitaminosis A, senile ichthyosis, etc. In these cases, the clinic is similar, but the reasons are different.

Symptoms of congenital ichthyosis

Symptoms directly depend on the form of the disease. In the clinic of simple ichthyosis, severe dry skin and peeling always occur. The affected areas are located on the extensor surfaces of the joints, especially the legs. The face remains untouched, with rare exceptions when the skin of the forehead and cheeks is involved in the process. Follicular hyperkeratosis is also characteristic - the accumulation of keratin in the hair follicles. It occurs on almost the entire surface of the skin where hair grows. It is detected upon palpation in the form of the so-called “grater” symptom. The skin on the palms and soles is thickened, the skin pattern is enhanced, and grooves are visible between areas of thickened skin. Patients experience decreased sweating, which is the cause of frequent hyperthermia.

The main symptoms of congenital ichthyosis appear from 3-12 months of a child’s life. Peeling of the skin often practically disappears by the age of 20-25. At the same time, changes in the palms and soles characteristic of this form of the disease remain. Often congenital ichthyosis of this type is accompanied by allergic diseases such as rhinitis, urticaria, and bronchial asthma. In most cases, gastrointestinal tract damage is characteristic: gastritis, colitis, biliary dyskinesia, hepatosplenomegaly. At the cellular level, the changes are identical to those in skin cells.

X-linked congenital ichthyosis appears in the first months of life and only in boys. A characteristic skin lesion is large, dirty brown scales without peeling. The localization of such areas can be almost anywhere, except for the area of ​​​​the palms and feet. This color of the scales is due to the high concentration of melanin in the lower layers of the epidermis. Among other signs, a specific flower-shaped clouding of the cornea is often detected without affecting visual acuity. A fifth of patients are diagnosed with cryptorchidism. Unlike simple ichthyosis, skin lesions in this type of disease practically do not decrease with age.

Lamellar ichthyosis appears from birth. The skin of a newborn is covered with a thin but dense film - this is a pathognomonic symptom of congenital ichthyosis of this type. Gradually, the film transforms into large thick scales from light to brown. Due to blockage of the sweat glands, sweating is impaired, so hyperpyrexia is often observed. On the palms and soles there are deep cracks and keratoderma. The grooves between the scales are painful and are a gateway to secondary bacterial infection, including sepsis. Lamellar congenital ichthyosis is accompanied by developmental defects: eversion of the eyelids (ectropion) and lips (exlabion), deformation or absence of the auricles, deformation of the nasal cartilage, fusion of the phalanges of the fingers or absence of terminal phalanges, etc.

Epidermolytic congenital ichthyosis is manifested by extensive moist erythroderma with the formation of bullous blisters. At the site of the opening of the blisters, erosions remain that disappear without a trace. Over time, rough keratinization occurs, and warts often form. The keratinized scales are dark and have an unpleasant odor (a consequence of a secondary infection). The mucous membranes are not affected in this type of congenital ichthyosis, and sweating is also not impaired. However, this form of the disease is very dangerous and can be fatal.

Congenital ichthyosis of the fetus is the rarest form of the disease and develops in utero at 16-20 weeks of pregnancy. Children are born premature, their skin resembles a shell, which soon cracks with the formation of large lamellar scales, often dark. Characterized by almost complete absence of hair on the head, keratoderma of the palms and soles. Due to severe keratinization of the facial skin, the mouth is constantly open, ectropion and exlabion are pronounced, and the ears are deformed. With congenital fetal ichthyosis, sensorineural hearing loss is often diagnosed. Reduced immunity contributes to the development of bacterial infections in the first days of life; Otitis, pneumonia, and subcutaneous abscesses are common. Mortality is high in the first days and weeks of life.

Diagnosis of congenital ichthyosis

During pregnancy, amniocentesis followed by analysis of amniotic fluid, as well as chorionic villus biopsy, can be used for diagnosis. However, invasive methods increase the risk of spontaneous abortion, so they are used extremely rarely in practice. The indication for prenatal biopsy is a significant history of congenital ichthyosis. Ultrasound in the third trimester allows you to diagnose fetal ichthyosis. There is a noticeably fixed position of the hands and an open mouth, hypoplasia of the nasal cartilages and nonspecific signs such as polyhydramnios and increased echogenicity of the amniotic fluid can be seen. Other forms of congenital ichthyosis can only be suspected.

After the birth of the child, the diagnosis is made by a pediatrician, primarily based on clinical symptoms characteristic of congenital ichthyosis. These are specific peeling of the skin, localization of the affected areas, the “grater” symptom in simple ichthyosis, pronounced erythroderma in epidermolytic ichthyosis, etc. Changes in tests are non-specific, but can reveal allergic processes (often accompany ichthyosis), high levels of cholesterol and at the same time reduced levels of estriol in blood (with X-linked ichthyosis). The history of the parents is important: previously identified cases of congenital ichthyosis, including its syndromic forms.

Often the clinical picture of the disease is nonspecific, so differential diagnosis is necessary. It is necessary to exclude acquired forms of ichthyosis, dermatoses (psoriasis, eczema, contact dermatitis, congenital syphilis, etc.), atopic dermatitis. Thus, dermatitis is characterized by the presence of an inflammatory process, itching, eczema, etc. However, congenital ichthyosis is often also accompanied by dermatitis. Dermatoses have their own pathognomonic symptoms that are absent in ichthyosis, for example, Hutchinson's teeth in congenital syphilis, specific papules with a favorite localization in psoriasis, etc. Acquired forms of ichthyosis develop as a result of autoimmune, infectious diseases, tumors, etc., in this case you need to look for a cause that can cause pathology after birth.

Treatment of congenital ichthyosis

Treatment of the disease is carried out in a hospital, in the case of severe forms of congenital ichthyosis - in the intensive care unit. The room must maintain high humidity and low air temperature. A hypoallergenic diet is usually indicated; in severe cases, feeding through a tube is indicated. It is recommended to take baths at least 2 times a day. This allows you to moisturize the skin, reduce peeling and prevent secondary infections. In cases of epidermolytic congenital ichthyosis, antiseptics are often used during bathing. After bathing, mechanical exfoliation is usually carried out, followed by the application of a moisturizer.

Systemic therapy for congenital ichthyosis is used with vitamin A preparations and retinoids, which facilitate the exfoliation of keratinized cells and reduce the rate of cell proliferation, in other words, inhibit their increased growth. In addition, retinoids have anti-inflammatory and immunomodulatory effects. Tigazon and neotigazon are currently used in pediatric practice. The high clinical effectiveness of these drugs is obvious, however, the effect of treatment is temporary, and therapy is carried out in courses due to many side effects: dryness and bleeding of mucous membranes, hyperostosis, liver dysfunction, photosensitivity of the skin and high sensitivity to light, etc.

Modern drugs include blockers of retinoic acid metabolism, for example, liarozole. The treatment has the same clinical effect, but the safety is much higher. The basis of external therapy for congenital ichthyosis is keratolytics: solutions of sodium chloride and urea, dexpanthenol, salicylic acid, topical retinoids. The products are applied to the affected areas of the skin and have a local effect, promoting exfoliation, softening the skin, reducing inflammation, etc. When prescribing keratolytics, it is necessary to take into account the age of the child, since some of them (urea, salicylic acid) are toxic to children in the first year of life.

In the treatment of severe forms of congenital ichthyosis, systemic corticosteroids, immunoglobulins, and antibiotics are used if necessary. It is mandatory to consult a pediatric ophthalmologist when diagnosing ectropion, a pediatric otorhinolaryngologist when there is deformation and absence of the auricle, as well as for the diagnosis and treatment of hearing disorders, in particular sensorineural hearing loss. In syndromic forms, congenital ichthyosis is often accompanied by neurological disorders; in these cases, consultation with a pediatric neurologist is required. A geneticist is also involved in the treatment to plan subsequent pregnancies and calculate the likelihood of the disease in future generations.

Forecast and prevention of congenital ichthyosis

The prognosis depends on the form of the disease. Clinical manifestations of simple ichthyosis are minimized after 20-25 years, but the quality of life still decreases due to the presence of systemic pathologies of the gastrointestinal tract. Severe forms of congenital ichthyosis are often the cause of death and childhood disability.

Genetic counseling is the only way to prevent congenital ichthyosis. It is necessary to plan pregnancy in case of a burdened anamnesis for this disease, that is, if one and especially both parents are sick, or one of them is a carrier of the mutation. In this case, refusal of pregnancy is recommended, but in any case, the final decision is made by the family. As an option, couples are offered IVF and adoption.

Good day, dear readers!

In today's article we will look at such a skin disease as ichthyosis, as well as the causes, symptoms, forms, treatment and prevention of ichthyosis.

What is ichthyosis?

Ichthyosis– a genetic skin disease, which is characterized by a violation of the processes of keratinization of the skin. The main symptom of ichthyosis is scaly skin that resembles fish scales.

Synonyms of ichthyosis: diffuse keratoma. The pathological process in which scales form on the skin is called hyperkeratosis. Ichthyosis is part of a group of skin diseases called dermatosis.

The severity of ichthyosis is varied - from minor roughness of the skin to serious pathological changes in the epidermis that are incompatible with human life. In addition, a fairly large variety of forms of ichthyosis have been identified (about 28 forms), but according to statistics, all of them are mainly of a hereditary nature, i.e. The disease develops in the prenatal period, or immediately after birth. Acquired ichthyosis is rare.

Course of ichthyosis

In the case of ichthyosis, the process of keratinization of the skin is accompanied by the accumulation of keratin in the epidermis, which has an altered structure, which leads to a very slow rejection of dead cells. At the same time, the patient's metabolism, thermoregulation, and normal functioning of the thyroid gland, adrenal glands, sex and sweat glands are impaired. Disturbances in the functioning of the sweat glands, against the background of impaired absorption of vitamin A (retinol), enhance the processes of keratinization of the skin.

The soreness of the skin, which is caused when trying to separate and remove the “scales,” is provoked by the accumulation of amino acid complexes between them, which literally cement the scales.

It has been established that the course of ichthyosis worsens in winter, especially if a person lives in places with a dry, cold climate. In warm regions with high air humidity, ichthyosis is much easier to tolerate.

Ichthyosis - ICD

ICD-10: Q80
ICD-9: 757.1

Causes of ichthyosis

Main cause of ichthyosis– a hereditary gene mutation caused by a violation of the metabolism (metabolism) of proteins and fats.

Among the factors that can trigger the process of ichthyosis are:

• Impaired functionality of the thyroid and gonads;
• Adrenal gland dysfunction;
• Lack of vitamins in the body, especially vitamin A (hypovitaminosis and vitamin deficiency);
• Increased levels of “bad” cholesterol in the blood;
• Skin involution in old age;
• Diseases of the hematopoietic system;
• Asocial living conditions.

Symptoms of ichthyosis

The main symptom of ichthyosis- scale-like surface of the skin. Other symptoms include: splitting nails, dull and brittle hair, frequent caries, conjunctivitis, retinitis, and myopia.

The remaining symptoms are somewhat different and depend on the form of ichthyosis. Let's look at them in more detail:

Vulgar ichthyosis (simple form of ichthyosis). It is the most common form of ichthyosis. Most often observed in newborns under 1 year of age.

Symptoms of vulgar ichthyosis: dry, flaky skin, covered with small scales tightly adjacent to each other, white or grayish. The skin on the feet and palms is folded. In this case, the skin in the following places remains unaffected: armpits, elbow and knee bends, groin and buttocks.

Vulgar ichthyosis has its own subtypes:

• Mild ichthyosis - the skin surface is dry, there is slight peeling of the skin;
• White ichthyosis - small, white, mealy scales;
• Brilliant ichthyosis - the scales look like a mosaic, and the disease spreads mainly to the arms and legs;
• Horny ichthyosis - the scales are very dense and rise above the surface of the skin;
• Serpentine ichthyosis - the horny scutes are dense, separated from each other by grooves;
• Bullous ichthyosis - blisters constantly develop on the skin;
• Lichenoid ichthyosis - in different parts of the scales are located in small localizations, in appearance resembling lichen.

X-linked ichthyosis. It is characterized by large brown scales that fit tightly to the skin, as well as affecting newborns only males. With age and during winter periods, the patient's condition usually worsens.

Linear circumflex ichthyosis. It is characterized by redness surrounded by flaky pink swellings. It looks like dermatitis.

Spiny ichthyosis. Characterized by large spiky layers.

Epidermolytic ichthyosis. It is a severe form of ichthyosis, the main symptoms of which are the formation of blisters and wounds on the skin, which peel off over time, and in their place pathological neoplasms form again. The skin on most affected areas is bright red, while on the palms and soles it is white and thick. At the 3rd and 4th year of a child’s life, concentric ridges form on the skin of his joints.

Ichthyosis of the fetus (Harlequin fetus). The most severe and fatal form of ichthyosis. With this diagnosis, a child dies in the womb, or in the first days/weeks after birth. Symptoms of the Harlequin fetus are very dry, “armor-like” skin, eyelids are turned inside out, ears, mouth and nose are completely deformed, there may be deformation of the head, arms and legs of an irregular shape.

Diagnosis of ichthyosis

Diagnosis of ichthyosis is established based on the following examination methods:

• Clinical course of the disease;
• General blood analysis;
• General urine analysis;
• Histological examination of skin scraping;
• Fetal skin biopsy (between 19 and 21 weeks of pregnancy).

Treatment of ichthyosis

At the moment, an exact treatment regimen for ichthyosis has not been identified, which is due to the fact that the disease itself and its exact etiology (causes of gene mutation) have not yet been fully established. And therefore, treatment of ichthyosis, as of the end of 2016, comes down to maintenance therapy.

• Maintenance therapy for the treatment of ichthyosis includes:
• Maintaining the required level of humidity in the room where the patient is being treated/lives;
• Moisturizing the skin;
• Complete nutrition enriched with vitamins and microelements;
• Strengthening the immune system;
• Treatment of the skin with special products with a healing effect;
• Treatment of concomitant diseases;
• Compliance with preventive measures that are aimed at eliminating already known factors that can cause or aggravate the course of ichthyosis.

Skin hydration

Dry skin with ichthyosis tends to crack. In places of cracking, liquid begins to ooze, and the damaged area begins to hurt. In addition, in places of “break”, the cracks are deep enough for various infections to get into them, and aggravate the course of the disease.

To prevent this, the skin is constantly moisturized. This, firstly, helps to soften keratinized tissue, i.e. giving them relative elasticity. Secondly, a more or less softened surface minimizes cracking of the skin, and, accordingly, the general soreness of the affected areas.

To soften the skin, it is treated several times a day with special products, which are best applied to the skin after water procedures.

Water procedures have proven themselves well, in the form of taking baths with sea salt, a weak solution of potassium permanganate (potassium permanganate), and carbon dioxide baths. At resorts specializing in the treatment of skin diseases, for ichthyosis, applications based on silt, peat and mineral mud are applied to the skin. Such applications help not only moisturize the skin, but also nourish, cleanse, heal and normalize metabolic processes.

To moisturize the skin, you can use products based on petroleum jelly, lanolin, vitamins (especially A, E and F), vegetable oils, almond oil, naphthalan, urea, salicylic acid, etc. These products moisturize and nourish the skin, promote its healing, separation of the upper layer of keratinized dead cells/scales.

To make the effect last longer, it is advisable to humidify the air in the room where the patient is located. To humidify the air, you can use a humidifier.

Important! Since the skin with ichthyosis is already dry and needs to be moisturized, do not allow it to dry out further. This can be caused by products such as soaps and detergents. To care for your body if you have ichthyosis, try to use special moisturizers - soaps, gels and shampoos.

Removing the upper dead scales from the surface of the skin

Keratolytic therapy is used to remove dead scales from the surface of the skin.

Keratolytic therapy involves treating the surface of the skin with special products (creams, ointments) that soften dead epidermal cells, after which they are easier to remove.

Products designed to remove dead cells usually contain the following ingredients: salicylic and lactic acids, urea, boric petrolatum, propylene glycol, ethanol, extracts of medicinal plants, for example, Japanese Sophora.

To improve the overall condition of the skin, as well as speed up its healing, sunbathing has a beneficial effect, which provides the surface of the skin with vitamin D (calciferol). However, overheating in the sun is strictly prohibited, otherwise sunburn will only worsen the situation.

Skin treatment aimed at renewing it

To speed up the healing and renewal of the skin, as well as for other skin diseases, it is necessary to focus on additional intake of the following vitamins and microelements: vitamin A (retinol), vitamins B, C (ascorbic acid), E (tocopherol), PP (vitamin B3 , nicotinic acid), iron.

Among the remedies for ichthyosis are: “Acitretin”, “Isotretinoin”.

Strengthening the immune system

To strengthen the immune system, which performs the protective functions of the body, it is necessary to focus on eating food enriched with vitamins and microelements, move more, avoid stress, try to have a good mood, and add more laughter to your life. At the same time, it is necessary to strictly abstain from smoking and alcoholic beverages. An exception may be taking red wine, but not more than 50 g/day.

Antibiotics

Antibacterial agents are used only if a secondary infection is associated with the disease, and strictly after consultation with a doctor. This is also very important so as not to aggravate the course of ichthyosis. The fact is that antibiotics reduce the body’s immune properties, making it more difficult for it to cope with the disease.

Hormonal agents

In especially severe cases, if general treatment measures do not give the desired result and relief does not occur, the affected areas of the skin can be treated with hormonal agents. At the same time, general treatment measures continue.

Psychological therapy

Bad mood, frequent stress, anxiety, poor relationships with other peers, tense relationships and quarrels between the child’s parents - all these situations can cause a child or teenager to develop depression, psychological imbalance, nervous breakdowns and other health problems. It is noted that such situations and living in such an environment also harm the human immune system and can be catalysts for the appearance of malignant tumors.

I would also like to draw your attention to the fact that Solomon wrote in his parables (17:22): “A merry heart does good as medicine, but a sad spirit dries up the bones.”

If it is difficult for you to change your attitude towards certain situations, to establish correct relationships in your family and/or with the outside world, you can turn to a priest who can help you find God’s peace. If you do not have the opportunity to contact a clergyman, you can contact a psychologist.

Prayer

Sometimes situations happen when modern medicine is completely helpless - when doctors send the patient home to live out the days that the doctors have allotted to him - when the doctors themselves say that only God can help the patient. These are precisely those situations in which it is apparently time for a person to truly turn to his Creator. There are many testimonies on the Internet, various printed Christian publications, through which people testify how God miraculously healed them from cancer, tuberculosis, AIDS, and other diseases. And all they did was turn to the Lord. Think about it, is it possible that your way out and healing is in Christ Jesus?

Treatment of ichthyosis with folk remedies

Ointment for ichthyosis. In a 5 liter saucepan put 250 g of butter (preferably homemade) and 100 g of ground beeswax, gradually stirring, bring the mixture to a boil, then add 100 g of oleoresin (pine resin), boil, stirring the product, for another 10 minutes and add 30 g of crushed celandine to it. Boil for another 5 minutes, then add 500 g of St. John's wort oil to the mixture, mix well and add 30 g of crushed chalk. Mix everything thoroughly and simmer for about 2 and a half hours, after which we add 50 g of propolis to the mixture, mix, simmer for about 30 minutes, remove from heat and let the product cool and brew for about 12 hours. After this, put the pan with the product on the fire and bring it to a boil again. After boiling, the product must be filtered, for which gauze folded in several layers is well suited. Cool and apply the prepared ointment to the affected areas of the skin.

Drinking for ichthyosis. For internal use, for ichthyosis, you can prepare the following drink: Carefully chop 4 parts of wheatgrass roots, 2 parts of tansy flowers, 2 parts of plantain leaves, 1 part of horsetail and 1 part of motherwort. Pour 500 ml of boiling water over the crushed plants, let them brew for 60-90 minutes, then strain the product. We do not throw away the remaining herbs, because... they can be used in the following recipe. You need to take the infusion 1/3 cup 3 times a day - morning, afternoon and evening. The course of treatment is 1 month, after which a week break is taken and the course is repeated.

Ointment for ichthyosis 2. The remaining plants strained from the previous recipe can be used to prepare the following ointment: add olive oil to the plants, in the same volume as the number of plants, mix everything, and put the product in a water bath to prepare for 2 hours. Next, strain the product and process areas of skin affected by ichthyosis.

Healing baths. In the treatment of skin diseases, various baths have proven themselves, which are best alternated with each other. For example, on day 1, take baths with the addition of sea salt, on day 2 – with the addition of borax and glycerin, on day 3 – add soda, on day 4 – starch, on day 5 – add infusions of black and green tea. After taking a bath, treat your skin with a cream containing vitamins A and F.

Important! Before using folk remedies, consult your doctor!

Prevention of ichthyosis

To prevent ichthyosis and other skin diseases, follow these recommendations:

• If possible, change your place of residence to a warm, humid climate;
• In your living room, humidify the air, for which you can use a humidifier;
• In food, give preference to foods rich in vitamins and microelements;
• When preparing food, give preference to steaming foods. Try to eat vegetables and fruits raw, because... during heat treatment of foods, most vitamins are destroyed;
• Eliminate smoking and alcohol from your life, and also minimize the consumption of unhealthy foods;
• Avoid stress;
• Try to relax at specialized resorts at least once a year.

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Ichthyosis is a hereditary skin disease that is characterized by a violation of the processes of keratinization of the skin.

As a result of this disease, the patient's skin becomes covered with scales that look like fish scales. Ichthyosis is characterized by its early onset (the first 3 years of life). Ichthyosis leads to excessive peeling of the skin, which looks like fish scales (from the Greek ichthys - “fish”). The severity of the symptoms of the disease depends on many factors. Sometimes ichthyosis causes virtually no discomfort and a person can live with it all his life. But sometimes congenital ichthyosis can lead to severe lesions on the child’s skin, which can cause death (fetal ichthyosis).

Various forms of ichthyosis occur in humans due to genetic mutations that are still not fully understood. Recently, the main cause of this disease has been called vitamin A deficiency, as well as the appearance of diseases of the endocrine system. The main pathological process is the excessive production of keratin (skin protein).

Types of ichthyosis:

The following forms of ichthyosis are distinguished:

• vulgar ichthyosis;
• lamellar ichthyosis;
• X-linked ichthyosis;
• Darier's disease;
• ichthyosiform erythroderma.

Ichthyosis vulgaris

Vulgar, or also called ordinary, is the most common form of ichthyosis. According to statistics, vulgar ichthyosis occurs in people in approximately 75–95% of cases among all forms of ichthyosis. In most cases, children suffer from this form in the first years of life (from 1 to 3 years).

The main cause of ichthyosis vulgaris is a genetic mutation that is inherited in an autosomal dominant manner. This type of inheritance indicates that a genetic disease will manifest itself in a child when he inherits a mutant allele (one of the forms of the gene that leads to an alternative development option) from at least one of his parents. It is important that this type of hereditary disease does not depend on the gender of the child and occurs in girls and boys with the same frequency.

Pathological disorders are generalized and spread to almost the entire skin. The skin becomes very dry, flaking appears, and the skin thickens. The skin glands (sweat and sebaceous) practically do not function. The main feature of ordinary ichthyosis is damage to the extensor surfaces of the upper and lower extremities. The extensor surface of the elbow, ankle and knee joints, as well as the sacral area, are most often affected. In children, the facial skin is often affected - the forehead and cheeks. Depending on the severity of the disease, horny scales can be transparent and thin or dark and massive. With vulgar ichthyosis, plugs of horny scales often form, which can clog the openings of the hair follicles (follicular keratosis) and sebaceous glands. The mechanical pressure of these horny plugs leads to atrophy (reduction in the number of functional cells) of the sebaceous glands and hair follicles. With this clinical form of ichthyosis, hyperkeratosis (thickening of the stratum corneum) is observed, as well as a decrease in the granular layer of the epidermis. In addition, degenerative processes occur in the germ layer of the epidermis.

It is worth noting that with this form of ichthyosis, the flexion zones of the elbow joints, armpits, popliteal fossae, and groin areas are not affected.

The main clinical forms of vulgar ichthyosis include:

• Xeroderma.Xeroderma is the most mild form of vulgar ichthyosis. Xeroderma leads to dryness and slight roughness of the skin, which most often appears on the extensor surfaces of the extremities.
• Simple ichthyosis. Simple ichthyosis is characterized by mild symptoms. The main symptom is dry skin, combined with flaking. Horny scales look like bran (pityriasis scales). The difference from xeroderma is that not only the limbs are affected, but also the torso. You can often see damage to the scalp. The horny scales are small in size, and in the center they are tightly connected to the deep layers of the epidermis.
• Brilliant ichthyosis. Shiny ichthyosis is characterized by a large accumulation of translucent scales on the extensor surfaces of the limbs, which are especially numerous in the area of ​​the hair follicles. Rarely do horny scales resemble a mosaic in appearance.
• Serpentine ichthyosis. Serpentine ichthyosis is characterized by the appearance of ribbon-like scales of brown or gray color. In serpentine ichthyosis, the horny scales are surrounded by deep grooves that resemble a snake's cover.

Note that the symptoms of ichthyosis become weaker during puberty due to changes in hormonal levels. This genetic disease lasts a lifetime. Exacerbations of ichthyosis occur in winter.

Lamellar ichthyosis

Lamellar ichthyosis occurs due to a defect in the transglutaminase protein. This protein regulates the process of keratinocyte differentiation. A defect in the transglutaminase protein leads to hyperplasia (excessive growth) of the basal layer, in which rapid growth of keratinocytes and their transition from the basal layer to the stratum corneum are observed.

With lamellar ichthyosis, the child's skin is redder and completely covered with a thin yellow-brown film. Sometimes this film transforms into large horny scales, which completely disappear after a short period of time. But most often the scales remain with a person for the rest of his life.

As a rule, with lamellar ichthyosis, hyperkeratosis only intensifies with age. At the same time, regression of erythroderma is observed (redness of the skin decreases). The most severe lesions occur in skin folds. In most cases, the skin on the face is redder, tighter and flaky. As a rule, there is increased sweating, especially in thick areas of the skin.

X-linked ichthyosis

X-linked ichthyosis is a recessive skin disorder. This type of disease affects only men, and women can only be carriers of the defective gene. X-linked ichthyosis results in congenital steroid sulfatase deficiency. This enzyme is needed to transform steroid hormones from an inactive form to an active one.

According to statistics, X-linked ichthyosis occurs in approximately one in 2,500 to 6,000 men. This form of ichthyosis appears already at 2 weeks of life. X-linked ichthyosis is similar in appearance to serpentine ichthyosis - many dense, horny dark brown scales appear on the skin, around which cracks and furrows form. Often, boys with X-linked ichthyosis are diagnosed with mental retardation, as well as various anomalies in the development of skeletal bones.

Darier's disease

Darier's disease (follicular dyskeratosis) is one of the clinical forms of congenital ichthyosis. Darier's disease leads to mental retardation in the child and also affects the thyroid and gonads.

Darier's disease is characterized by hyperplasia of the granular and stratum corneum. As a result of a defect in one of the enzymes involved in the keratinization process, abnormal bodies and grains appear in the germ layer.

The main symptom of follicular dyskeratosis is a skin rash with a scaly surface. Many dense spherical nodules (papules) form on the skin. The size of papules most often does not exceed half a centimeter. Very often, the nodules merge, forming weeping lesions. The development of subungual hyperkeratosis is also characteristic, which leads to thickening of the nails. It is also worth noting that Darier's disease can affect the mucous membranes.

Ichthyosiform erythroderma

Ichthyosiform erythroderma (Broca's disease) is characterized by the synthesis of defective keratin, as well as impaired growth and differentiation of keratinocytes. In the upper layers of the epidermis, a large number of grains and vacuoles (vesicles) are formed, and a strong thickening of the stratum corneum occurs (acanthokeratolytic hyperkeratosis). One of the differences between ichthyosiform erythroderma and ichthyosis vulgaris is the presence of an inflammatory infiltrate (accumulation of leukocytes) in the dermis.

Ichthyosiform erythroderma is an autosomal dominant disease. It leads to thickening and swelling of the skin. Many blisters and weeping spots appear on the skin. Broca's disease is also characterized by inflammatory phenomena that occur in the dermis. Nails are often thickened and deformed. It is worth noting that the symptoms of the disease most often regress (decrease) with age.

Symptoms of ichthyosis

The symptoms of ichthyosis are many and varied. Each clinical form of ichthyosis has a number of symptoms and characteristic manifestations. The severity of symptoms depends on the severity of the disease:

• Dry skin is a direct consequence of water-salt imbalance. When you have ichthyosis, the epidermis is unable to retain fluid. Dry skin directly depends on the amount of fluid lost.
• Peeling - appears due to excessive detachment of horny scales from the surface of the epidermis. In ichthyosis, the rate of corneocyte desquamation is greatly increased.
• Redness of the skin (erythroderma) – occurs with ichthyosiform erythroderma. Skin color can vary greatly and depends on the severity of erythroderma.
• Deformation of nails - occurs due to a defect in the synthesis of keratin (the main protein of the nail plate). Nails may thicken, peel, and sometimes become significantly deformed. It is worth noting that nail damage is not necessary for vulgar ichthyosis.
• Thinning and brittle hair - occurs due to atrophy of the hair follicles and the impact of horn plugs on them. Thinning hair also occurs due to a defect in the synthesis of keratin, which is found in large quantities in the hair shaft.
• Pyoderma (a purulent-inflammatory skin disease) occurs secondary to a decrease in local immunity. The affected skin is very vulnerable to pathogens. Most often, pyoderma occurs against the background of microtrauma of the skin, as well as in the event of itching.
• Conjunctivitis - a number of forms of ichthyosis can cause various eye lesions. The most common form is an inflammatory process of the mucous membrane of the eye (conjunctivitis). An inflammatory process is often observed at the edges of the eyelids (blepharitis) and in the retina of the eye (retinitis).
• A pronounced skin pattern on the palms and soles is one of the most common symptoms of ichthyosis. A pronounced striation of the skin pattern indicates a hereditary skin disease.

Important! With fetal ichthyosis, children are often born much prematurely; such newborns are not always viable.

Causes of ichthyosis

Ichthyosis is a hereditary disease, so the main cause of this skin disease is a gene mutation that is passed on from generation to generation. The biochemistry of the mutation has not yet been deciphered, but it is known that the disease is manifested by a violation of fat and protein metabolism. The result of this pathology is that excess amino acids and cholesterol accumulate in the blood, which leads to the appearance of a specific skin reaction. Patients who have a gene mutation that leads to the development of ichthyosis experience:

• violation of the body's thermoregulation;
• slowdown of metabolic processes;
• increased activity of enzymes that take part in the oxidative processes of skin respiration;

In patients with ichthyosis, there is also a decrease in the functioning of the endocrine glands - the reproductive, thyroid, and adrenal glands. These symptoms may appear immediately or increase gradually as the disease progresses. The result is that the deficiency of cellular immunity increases in patients, the ability to absorb vitamin A also decreases, and the activity of the sweat glands is disrupted. This increases the chance of detecting diseases of the sweat glands such as hydrocystoma, syringoma, and eccrine spiradenoma.

Important! If a patient is diagnosed with an acquired form of ichthyosis, he should be referred for additional examination. The purpose of these examinations should be to exclude the presence of malignant neoplasms.

Treatment of ichthyosis

Treatment of ichthyosis is prescribed by a dermatologist. The treatment regimen depends on the form of the disease and the severity of its course. Most often, treatment is carried out on an outpatient basis, but in severe forms of the disease the patient may be admitted to a hospital.

The following methods are suitable for the treatment of ichthyosis:

Vitamin therapy. Patients with ichthyosis are prescribed courses of vitamins of groups A, B, C, E, as well as nicotinic acid. Vitamins are prescribed in large doses (this depends on the age of the patient). Taking vitamins leads to softening of the scales on the skin.

To increase immunity in patients with ichthyosis, iron and calcium supplements, aloe extract, and gamma globulin are prescribed.

Patients with ichthyosis are prescribed blood plasma transfusions.

If the thyroid gland, pancreas, or adrenal glands are not functioning well, characteristic of this disease, the doctor selects hormone replacement therapy. Hormones are used to treat severe forms of ichthyosis, especially in newborns.

Children who have everted eyelids are prescribed instillation of an oil solution of retinol acetate. The dosage of hormones and the schedule of administration are prescribed by the doctor for each patient separately, it depends on the severity of the disease. Nursing mothers of children with ichthyosis are prescribed the same treatment as their infants.

Local treatment of ichthyosis in children means the appointment of baths with a solution of potassium permanganate. Adult patients are prescribed baths (local or general, depending on the location of the skin lesion) with the addition of sodium chloride, starch, and urea.

To soften the skin with ichthyosis, the doctor prescribes the use of ointments and creams, which include lipamide and vitamin U.

Physiotherapy is also indicated for patients with ichthyosis. Effective procedures for this disease include thalassotherapy, ultraviolet irradiation, carbon dioxide and sulfide baths, and heliotherapy. During periods of remission of the disease, peat and silt baths are prescribed for preventive measures, and the use of aromatic retinoids is also necessary.

Treatment using traditional medicine methods

Along with the therapy prescribed by the doctor, it is recommended to additionally use medications prepared on the basis of medicinal herbs for the treatment of ichthyosis.

General strengthening methods of traditional medicine

To improve the condition of the skin with ichthyosis, traditional healers recommend that patients:
Short sunbathing. Take them in the morning before 11 o'clock.

Local preparations

To treat ichthyosis, various topical preparations are used that can moisturize the skin, and they also help exfoliate horny scales (keratolytic effect).

• Vaseline is an ointment for external use. It softens and moisturizes the skin in affected areas, while having a moderate dermatoprotective effect.
• Dermatop is a cream for external use that has a membrane-protective effect (protects the membranes and organelles of epidermal cells). It also reduces the production of biologically active substances that trigger the inflammatory process. Dermatop affects the epidermis, moisturizing it, and also increases the elasticity of the skin. In moderation, the drug saturates the skin with lipids and has a moderate antiallergic effect.
• Salicylic acid is a solution for external use that has a moderate anti-inflammatory effect and has a keratolytic and disinfectant effect.
• Akriderm is an ointment for external use that has a pronounced anti-inflammatory effect by reducing the synthesis of inflammatory mediators (cytokines). It also has a moderate anti-edematous and anti-allergic effect.
• Diprosalik is an ointment for external use. Betamethasone dipropionate has anti-inflammatory, vasoconstrictor and antipruritic effects.
• Videstim is an ointment for external use; it has a membrane-protective effect, promotes the process of skin regeneration and significantly reduces the process of keratinization. When it penetrates deep into the skin, it helps saturate the tissues with vitamin A.

Physiotherapeutic methods of treatment.

Sometimes physiotherapeutic procedures are used to treat ichthyosis. Such procedures help moisturize damaged skin and also enhance tissue metabolism. The effect of treatment is observed after 1 week of the course. It should be noted that physiotherapeutic treatment methods must be selected and prescribed by a doctor, who will be based on the clinical form and severity of the disease.

The following physiotherapeutic procedures are used to treat ichthyosis:

• Therapeutic baths soothe and have a good effect on the human nervous and cardiovascular system. Therapeutic baths improve metabolism in affected areas of the skin. Depending on the main component, there are different types of medicinal baths. It is important that the use of medicinal baths is contraindicated in cases of acute inflammation or exacerbation of a chronic disease, blood diseases, and cancer.
• Oxygen baths are a type of gas bath. The main substance is oxygen, which is in dissolved form. The temperature of the water in the bath should be from 34 to 36ºС. Add 200 ml of a 2.5% solution of potassium permanganate (potassium permanganate) to the water, after which the water must be thoroughly stirred. Then add 40 ml of 20% sulfuric acid solution and 200 ml of hydrogen peroxide solution, then mix. Within 10-15 minutes the patient can take an oxygen bath. The duration of the procedure is from 15 to 20 minutes. Course of treatment: 12-15 baths.
• Salt baths are the easiest to prepare. To prepare a salt bath, you need to take 250 - 300 g of salt per 200 liters of water (bath with a very low salt concentration). Water temperature: no more than 38ºС. Duration of the procedure: 20-25 minutes. Course of treatment: 10 baths.
• Starch baths consist of fresh water, the main component of which is starch. To prepare a bath, add 1 kg of starch to the water, while for a local bath, 200 g is enough. First mix the starch with a small amount of cold water, and then pour this mixture into the bath. Water temperature: from 34 to 36ºС. Duration of the procedure: no more than 25 minutes for adults, and no more than 10-12 minutes for children. Course of treatment: 10 baths.
• Mid-wave ultraviolet irradiation (SUV irradiation) in suberythemal and erythemal doses has a beneficial effect in the treatment of ichthyosis. This physiotherapy procedure helps to produce vitamin D in the skin, as well as vitamin D2. In addition, SUV irradiation stabilizes metabolism and saturates the body with vitamins A and C. It has now been proven that SUV irradiation increases the concentration in the body of some biologically active substances that directly affect the action of the endocrine system. Also, mid-wave ultraviolet irradiation helps to increase the body's resistance functions and stimulates the human immune system.
• Thalassotherapy is a comprehensive method of healing the whole body, which includes the use of various factors from the sea or ocean (therapeutic mud, sea water, algae, silt). Sea water contains many microelements and macroelements, such as iodine, iron, calcium, manganese, phosphorus, fluorine, they are needed for the proper functioning of various organs. The combination of several thalassotherapy methods leads to long-term hydration of the skin, which helps to reduce the severity of symptoms.
• Heliotherapy is based on the use of solar radiation for therapeutic purposes. Heliotherapy helps the formation of vitamin D and stimulates the immune system. This procedure is done using sunbathing. Patients are placed on high couches, their heads must be covered with a hat or kept in the shade. In order for the exposure to solar radiation to be symmetrical and uniform, it is necessary to periodically change the position of the body. Heliotherapy is carried out at a strictly defined time. In the morning from 8 to 11 o'clock, in the afternoon from 16 to 18 o'clock. Air temperature: not lower than 20ºС. First heliotherapy session: no more than 15 minutes. Every 3 days you need to increase your exposure to the sun by 3-4 minutes. After 1 week you need to take a break of 2 days. Maximum exposure time to sunlight: no more than 1 hour.

Important! If there are cases of ichthyosis in the family, determining the degree of genetic risk is mandatory.

Drugs

Photo of ichthyosis

Consequences of ichthyosis

The prognosis for ichthyosis is almost always unfavorable. This is due to the fact that even with a mild form of ichthyosis, systemic pathologies begin to appear and metabolic disorders progress, which leads to the development of severe complications.

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Prevention of ichthyosis

Since ichthyosis is a hereditary disease, prevention mainly consists of obtaining consultation with a geneticist before pregnancy.

What is ichthyosis?

Ichthyosis is a skin disease due to disruption of the keratinization processes of skin cells, which is inherited. The disease is the most striking representative of the group of diseases of skin dermatosis.

It looks like peculiar scales on the skin, reminiscent of fish scales. Amino acid accumulations with cementing properties begin to form between these scales. Thus, the scales become tightly linked to each other, which makes their separation from the body quite painful.

This disease is similar in symptoms to diffuse keratoma, hyperkeratosis, and various types of dermatoses. In addition, there are about 20 types of this disease in the world, with similar symptoms but different forms of manifestation.

Read more about photos, symptoms and treatment of skin keratoma in adults in another article.

The following classification of forms of ichthyosis can be given:

• simple, when the entire skin is affected by small scales (vulgar ichthyosis);
• transparent or shiny, when the skin is affected by transparent gray scales that resemble a mosaic in appearance (lamellar ichthyosis);
• scuticular - on the skin there are thick horny plates superimposed on each other (Harlequin ichthyosis, late-form epidermolytic ichthyosis);
• x-linked or blackening, with sequential intense damage to the skin with dense dark-colored scales.

Many factors depend on the stage (complexity) of development of this disease:

• external and internal signs of illness;
• the difficulty of diagnosing the patient’s condition and the form of manifestation of ichthyosis;
• prescribing a specific treatment.

There are several degrees of complexity of cutaneous ichthyosis:

1. Light form. This is a late manifestation of the disease, beginning between the ages of 3 months and 12 years.
2. Moderate form. The disease occurs from birth, but children survive.
3. Severe or hystrixoid form. Newborns die within a few days of life.

Causes of skin ichthyosis

The main reason for the appearance of this skin disease is a violation of protein metabolism in the body. This occurs due to the accumulation of a large number of amino acids, which, in turn, leads to impaired fat metabolism, increased cholesterol and, subsequently, to a gene mutation that causes ichthyosis.

The reasons influencing such gene changes in the body are mainly internal in nature:

• hormonal disorders and diseases of the endocrine system;
• vitamin deficiency, especially vitamin A;
• increased levels of “bad” cholesterol in the blood;
• skin age-related changes;
• antisocial lifestyle.

Forms and symptoms of skin ichthyosis

Ichthyosis vulgaris

Another name is ichthyosis vulgaris. Its most common form, which occurs in an autosomal dominant manner. It is detected in children up to three months of age, but can progress until the age of three. Affects the skin on any part of the body, except the groin area, armpits and popliteal cavities, and elbow bends.

Symptoms:

• It begins with dry and rough skin, which gradually becomes covered with small white or grayish scales. At the same time, the condition of the hair also worsens, it becomes dry and brittle, caries appears, nails split, and conjunctivitis develops.
• The disease progresses depending on the degree of gene mutation; the larger it is, the more severe the stage of ichthyosis. With a mild form, represented only by dryness and slight flaking of the skin, an abortive course is possible.
• Ichthyosis, like any disease, leads to a decrease in the body’s immunity, as a result of which space opens up for the development of allergies or purulent infections. As the disease progresses, it also damages the cardiovascular system and affects the liver.

Congenital ichthyosis

Congenital ichthyosis (Harlequin ichthyosis), according to its name, develops in the womb, at approximately 4-5 months of pregnancy. The child is already born with skin covered with thick (up to 1 cm) horny scutes of gray-black color, also dotted with grooves and cracks at intervals.

Due to the tight adhesion of the scales, the baby’s external organs are subject to deformation:

• the mouth is either very stretched or, conversely, narrowed so that the feeding tube barely fits into it;
• ear openings have an unnatural shape;
• eyelids are inverted.

The consequences of congenital ichthyosis are associated pathologies:

• skeletal disorders - clubfoot and clubfoot;
• interdigital bridges (webs) on the palms and soles;
• lack of nails.

The disease can cause premature birth and increases the risk of stillbirth. Due to the presence of anomalies incompatible with life, children usually die in the first days of life after their birth.

Lamellar ichthyosis

Also called “lamellar”. It manifests itself from birth, as it is also congenital, and is very difficult.

The child is born completely covered with large scaly plates, which make up a kind of “shell”. Most symptoms are similar to those of congenital ichthyosis. There is a slowdown in the processes of sweating and sebum secretion. Due to the covering of the head with scales, the hair is sparse.

Lamellar ichthyosis is often accompanied by various developmental disorders, such as:

• deafness;
• blindness;
• dwarfism and others.

Recessive ichthyosis

Recessive ichthyosis (X-linked ichthyosis) occurs exclusively in men, however, it is inherited on the X chromosome. It is caused by a defect in placental enzymes. It is diagnosed from the 2nd week of life, in the most exceptional cases - earlier.

The skin is covered with large dark brown scales in the form of peculiar shields. In between, the skin is riddled with cracks, which makes it look like a snake. Children with this disease usually have mental retardation, abnormal skeletal structure, and epilepsy. In some cases (10–12%), hypogonadism or juvenile cataracts appear.

Epidermolytic ichthyosis

Epidermolytic ichthyosis is one of the forms of congenital ichthyosis. The entire skin of a newborn baby has a bright red color, as if it had been doused with boiling water. At the slightest touch to it, the scales move away.

In some cases, hemorrhage into the skin and mucous membranes is observed. In such circumstances, children most often die immediately. In milder cases of epidermal ichthyosis of the skin, the affected surface becomes smaller, but throughout life the disease periodically worsens, usually with an increase in body temperature to critical levels.

At about three years of age, layers in the form of thick dark gray scales begin to form in the natural folds of the skin.

Together with epidermic ichthyosis, the following pathologies can be diagnosed:

• diseases of the endocrine system;
• cardiovascular diseases;
• pathologies of the nervous system;
• mental retardation;
• spastic paralysis;
• anemia;
• infantilism and others.

All of them further complicate the course of ichthyosis, which is why the mortality rate increases. In the world, the most common forms of cutaneous ichthyosis are vulgar and recessive.

Photo

Diagnostics

Diagnosis is carried out by a dermatovenerologist. Due to the pronounced symptoms, diagnosing this disease is not difficult. In this case, differential diagnosis with similar dermatological diseases: psoriasis or seborrhea becomes important.

To determine the degree of progression of ichthyosis and its form, clinical studies are also prescribed:

• general blood and urine tests;
• blood chemistry;
• histological analysis (skin scraping).

In cases where a child is conceived by parents, one of whom is a carrier of the disease, it is necessary to take a biopsy of the fetal skin, which is the only way to diagnose ichthyosis. This study is carried out at 19-21 weeks of pregnancy.

Treatment

Cutaneous ichthyosis cannot be completely cured. You can only ease the course of the disease and reduce the frequency of exacerbations. For any form of ichthyosis, only complex comprehensive treatment, combined with constant proper skin care, will help.

A dermatovenerologist may prescribe a complex of the following drugs and procedures:

• vitamins of groups A, E, PP, C, B, as well as preparations based on them;
• corticosteroid hormones;
• lipotropic drugs to reduce skin keratinization;
• immunotherapy;
• donor blood plasma.

Hormonal drugs are prescribed for severe manifestations of ichthyosis, and, consequently, for its congenital forms. If the result of such treatment is positive, the intake of these drugs is gradually reduced.

Hormonal drugs are also used in the treatment of severe forms of pemphigus.

The prescription and use of hormonal drugs must be treated with special attention, taking into account, in addition to the form of the disease, the patient’s age, his body weight, as well as other characteristics of his body.

If you have ichthyosis, you should not self-medicate. Many drugs have toxic properties and a range of side effects. Therefore, in this matter you need to completely rely on a competent specialist and constantly be under his supervision.

Treatment of ichthyosis also includes special external care for skin conditions that need constant hydration:

The above procedures can also be carried out only after consultation with a doctor.

Various types of physiotherapy can be prescribed for treatment, aimed at stimulating metabolic processes in the tissues of the epidermis:

• ultraviolet irradiation;
• mud therapy;
• carbon dioxide baths;
• heliotherapy.

Inpatient treatment is necessary for severe cases of the disease.

It includes:

• hormonal therapy;
• physiotherapy;
• immunotherapy;
• treatment with medications, taking vitamin complexes.

Home treatment includes:

• drug therapy;
• external skin care.

Description of the disease

Ichthyosis is the name of a rare genetic skin disease. Since ichthyosis is a genetic mutation, this disease is not contagious - you cannot “catch” it during communication with the patient.

The disease ichthyosis causes dead skin cells to accumulate in large areas on the surface of a person's skin.

In most cases of ichthyosis, these areas are soft to the touch and they are only found in specific areas of the body. However, in some cases, ichthyosis skin lesions are severe and can cover large areas of the body, including the abdomen, back, arms and legs.

Ichthyosis (sauriasis) belongs to a group of genetic disorders inherited in an autosomal dominant manner. It is characterized by sudden keratinization of the upper layers of the epidermis. The localization of keratinization can be very diverse and in this case it is quite difficult to identify the exact system.

Causes

Ichthyosis vulgaris refers to a simple type of ichthyosis, its development is directly related to the presence of gene changes in the body and is inherited by an autosomal dominant type of inheritance.

In this case, mutated genes are inherited and can control enzyme systems and the process of skin keratinization. This mechanism has not been fully deciphered.

Physiological keratinization of epithelial cells and the formation of the stratum corneum proceed “gently” and consist of the division of germ cells and their movement into the upper layers of the skin.

Under normal conditions, the lower layer of fresh epithelial cells gradually replaces the old one, which is usually accompanied by imperceptible peeling.

Thus, this life cycle, which lasts for two days, forces the newly formed epidermal cells to move to the skin surface and facilitates the transfer of all the substances they contain.

The consequence of disruption of keratinization processes, leading to various skin diseases, called keratoses or hyperkeratoses, is a delayed rejection of keratinized epithelial cells and/or a pronounced increase in the thickness of the stratum corneum.

The huge variety of features of clinical manifestations, the varied morphological picture, the presence of rare forms, the lack of an unambiguous view of researchers on the causes and mechanisms of development of hyperkeratoses, which include a large group of diseases united by the term “ichthyosis,” have not yet allowed clinicians to develop a specific unified classification.

The cause of the development of congenital ichthyosis is always gene mutations that are inherited. The factors that provoke such gene disorders have not yet been studied by geneticists.

It is known that mutations lead to changes in many biochemical processes in the patient’s body, which are manifested by impaired keratinization of the skin.

As a rule, signs of congenital ichthyosis are observed in a child immediately after birth, but sometimes they are noticed for the first time only in childhood.

To date, the causes of lamellar ichthyosis have not been fully identified. However, the most real reasons are considered to be disturbances in the process of keratinization of the epidermis.

This may occur due to gene mutations that can be inherited. Moreover, if the direct descendants of parents who suffered from lamellar ichthyosis did not have this disease, then their children are no longer potential carriers of the mutated gene.

Lamellar ichthyosis can most often develop with a severe defect in the transglutaminase protein, which regulates the formation of keratinocytes.

This also leads to excessive growth of the basal layer with active growth of keratinocytes, which leads to their advancement to the stratum corneum from the basal layer.

Also, the probable causes of the appearance of this skin pathology include the following factors:

The pathology is a hereditary disease (in the vast majority of cases). The exact etiology is currently unknown.

The synthesis of amino acids is disrupted in the patient's body. As a result, they begin to accumulate in excess quantities in the blood, which leads to disruption of keratin synthesis.

Also, a similar picture is accompanied by disruption of the thyroid gland and hypofunction of the gonads.

Over time, a persistent disturbance of homeostasis develops. This is accompanied by a violation of the absorption of vitamin A, which is necessary to maintain healthy skin.

As a result, the sweat glands malfunction. Keratization of the upper layers of the skin develops, which worsens over time to a state of hyperkeratosis.

Other types of ichthyosis

In addition to ordinary (vulgar) ichthyosis, there are other types of this disease, which differ from each other in symptoms, severity, and condition of the skin.

In total there are about forty of them. The most common are abortive, black, white, spiny, simple and serpentine.

Treatment of skin ichthyosis is prescribed depending on the type and form.

The most common form of skin ichthyosis, ichthyosis vulgaris, is inherited in a dominant manner. It appears in early childhood, in the form of dry and rough skin, most often on the elbows and knees.

The skin of the face is usually not affected in childhood, but in adults peeling appears on the skin of the forehead and cheeks. There is peeling of the palms and soles.

Nails become brittle and hair may become thinner.

There are several types of vulgar ichthyosis: xeroderma (slight dryness and roughness of the skin), simple ichthyosis (damage to the skin and scalp), brilliant ichthyosis (thin transparent scales on the limbs), white ichthyosis (white scales, skin as if sprinkled with flour), ichthyosis serpentine (large gray-brown scales).

X-recessive ichthyosis occurs only in boys and is often accompanied by developmental disorders of the central nervous system and skeleton.

The classification of this skin disease is carried out depending on the severity:

• a severe form, in which the symptoms are very obvious, noticeable upon external examination of the patient’s body. Also called the hystrixoid form. May be characterized by the birth of a premature baby, and such children die during the first days of life;
• moderate form - children, as a rule, survive;
• late form of the disease - manifestations of the disease are detected with some delay in time.

Clinical signs

The disease ichthyosis, the treatment of which requires immediate treatment, begins to manifest itself from the first months of life. This may be indicated by rough and dry skin, covered with tightly fitting gray-black or whitish scales.

The groin area, armpits, popliteal fossae, and elbows are not affected by ichthyosis.

The patient's palms become covered with mucoid scales, and a pronounced skin pattern appears. The severity of the disease depends on the depth of the gene mutation and the possibility of an abortive course.

Nails, teeth and hair with ichthyosis undergo dystrophic changes. Skin disease is accompanied by chronic retinitis and conjunctivitis, myopia, chronic allergic diseases, disorders of internal organs (liver problems, cardiovascular failure).

When diagnosed with ichthyosis, treatment should be comprehensive and aimed at eliminating the causes and consequences.

Symptoms

External manifestations of vulgar ichthyosis include symptoms such as uneven peeling of the skin, thickening of its upper layer, and changes in tactile sensations in altered areas of the skin. The mechanism of disease activation is as follows:

1. excess keratin production, which is accompanied by changes in skin structure;
2. increasing the rate of movement of keratinocytes into the upper layer of the epidermis;
3. slowing down the rejection of dead cells by strengthening the connections between them during the accumulation of decay products in cell tissues;
4. epithelial cells acquire a dystrophic nature, the appearance of bubbles (vacuoles) in the upper layer of the skin, changes in the thickness of the epidermis.

How to treat an apple tree for scab in July

• With the development of vulgar ichthyosis, hair loss occurs, and the peeling is mealy-like, pityriasis-like or fine-plate in nature. Fragility and thinning of the nail plates are also often observed, and skin damage occurs throughout the body, with the exception of the lateral surfaces, buttock and cervical areas.
• The color of the scales can vary: from gray to whitish and black. The front surface of the lower leg is covered with scales in the form of fish scales and has a shiny surface.

Symptoms of ichthyosis tend to be more severe in winter, when the air is colder and drier.

Symptoms of ichthyosis include:

• scalp lamination
• itchy skin
• scaly formations on the skin
• very dry skin
• thickened skin
• rare: thinning of nails, bones, hair and teeth, conjunctivitis, allergies

The symptoms of ichthyosis are difficult to miss - with ordinary (vulgar) ichthyosis, which is most often diagnosed, the skin first becomes dry and rough, after which the skin with ichthyosis becomes covered with small whitish or gray-black scales, which are firmly connected to each other like fish scales.

At the same time, the elbow and popliteal folds, armpits and areas in the groin are not affected by ichthyosis. In severe cases of ichthyosis, deep, painful cracks may develop on the soles of the feet or palms of the hands.

Look at what ichthyosis looks like in the photo, you will agree that all manifestations are very symptomatic.

The initial signs of ichthyosis may be dry and rough skin.

The clinical picture of ichthyosis is largely determined by the form of the disease. In our article we will look in detail at the symptoms of the most common type of this disease - ordinary (or vulgar) ichthyosis.

Very often the scalp is affected, the hair becomes thinner, falls out, and complete baldness may occur. The scales are larger and denser, in contrast to the vulgar form, and have a darker shade.

Patients suffer from organ dysfunction. Disorders of the skeletal system and mental development may develop, the cornea of ​​the eyes becomes cloudy, and cases of epilepsy are common.

Congenital ichthyosis in children manifests itself in a number of disorders and developmental defects. Such children are born prematurely and with low birth weight. The child's skin is completely changed and resembles a shell, which cracks and blood oozes from them.

While the development of the child’s skin is disrupted, other organs, tissues and mucous membranes continue to develop normally. The skin is not elastic; it holds and turns the attached tissues outward. The child’s face and entire body are greatly deformed and take on an unnatural appearance.

The reason for the high mortality rate in newborns is due to the fact that keratinized tissue grows and tightens or completely clogs vital organs.

The newborn cannot breathe or eat, the internal organs have developmental defects, and an infection develops. Such children are also called “Harlequins”, and the disease is called “Harlequin symptom”.

Ichthyosis in children can affect the entire skin or only certain areas. In such places, the skin turns red, and edematous lumps can be felt underneath it, especially in places where skin folds are located.

Pathological areas on the face can disfigure the appearance, turning out the eyelids or the mouth and nose area. But such children have a chance of survival.

The skin disease in question affects the upper layer of the epidermis, the process of keratinization of young cells is disrupted, which manifests itself in skin changes:

1. on the surface of the skin, especially in the neck and face, as well as on the chest, between the shoulder blades, areas with small dry scales form, which over time change from the color of healthy skin to grayish and dark gray;
2. With this disease, the entire body of a child is covered with a thin film that has a yellowish-brown tint, which can transform and take the form of tiny scales;
3. the skin takes on an unhealthy appearance, and the affected areas are localized in mild forms of the disease. The exception to damage is deep folds of the skin and the lateral surfaces of the body. However, as the disease progresses, it manifests itself even in those areas that usually do not undergo changes;
4. When the disease becomes active, the scales can take on the appearance of scutes, which give the skin the appearance of a snake;
5. Damage to the nail plates with lamellar ichthyosis occurs infrequently, but sometimes red or white stripes may appear on the nails, the edge of the nail becomes thinner and begins to crumble.

To relieve these symptoms, timely diagnosis is required, which allows you to draw up the correct treatment regimen and relieve unpleasant symptoms.

The first sign of the development of ichthyosis is dry skin. The skin becomes rough.

Over time, it thickens and cracks, and whitish or gray crusts appear on its surface. On the surface of the palms and soles, the skin pattern becomes more pronounced.

Nails in the affected areas are thin and weak and break easily. Hair hardly grows, and if it does grow, it is very weak and sparse.

Signs of the disease affect the upper layer of the skin, namely, the keratinization of new epidermal cells is disrupted.

The process manifests itself in the following changes:

1. Zones with small scaly plates are formed, which turn gray over time. Changes most often occur on the face and neck, chest, and between the shoulder blades.
2. The child's body is covered with a brown-yellow film, which may become scaly.
3. In the moderate to severe form, the affected areas are more localized and rarely affect the folds of the body.
4. With the active development of the disease, the scales can take on the appearance of plaques and become similar to snake scales.
5. Changes in the nail plate are very rare, but when they occur, red and white stripes appear and the free edge of the nail becomes brittle.
6. Children's eyelids and lips turn out.
7. When it spreads to the folds of the skin, cracks form in these places that remain constantly moist, increasing the risk of infection.

The manifestation of such characteristic symptoms requires differential diagnosis, since there are several types of ichthyosis and determining the type of disease is important when drawing up the correct treatment regimen.

Diagnostics

Ordinary ichthyosis can be diagnosed already by external examination of the patient’s skin with complaints of increased dryness of the skin, thickening of the skin, and hair loss.

The most characteristic manifestation of vulgar ichthyosis is considered to be damage to the mouths of hair follicles by masses of horny epithelium, with the formation of flesh-colored or reddish-gray tubercles, covered with skin scales and occasionally surrounded by a reddish corolla.

However, making an accurate diagnosis is difficult due to the blurred external examination. Therefore, for a more accurate diagnosis, a number of additional studies are carried out, which, however, are very expensive.

Their low availability also makes it difficult to diagnose the disease and clarify its type. Therefore, in the presence of characteristic manifestations, much attention is paid to the following diagnostic actions:

A dermatologist who specializes in skin disorders can usually diagnose ichthyosis visually.

Your doctor will ask you about any family history of skin conditions, the age you first experienced symptoms of ichthyosis, and whether you suffer from any other skin conditions.

Your doctor will begin to note where patches of dry skin appear. This will help your doctor monitor the effectiveness of treatment for ichthyosis symptoms.

The dermatologist may also perform other tests, such as a blood test or skin biopsy, to rule out other skin conditions such as psoriasis, which causes similar symptoms. A skin biopsy involves removing a small area of ​​affected skin for examination under a microscope.

Due to the high cost and inaccessibility of specific studies, anamnestic data and characteristic clinical symptoms are of primary importance in diagnosis. In this case, the greatest attention is paid to:

In most cases, diagnosing ichthyosis is not difficult. To carry it out, a dermatologist just needs to examine the patient and perform a histological examination of a skin sample.

If congenital forms of ichthyosis or Harlequin ichthyosis are suspected, a pregnant woman is advised to undergo tests of amniotic fluid and a fetal skin sample (this is performed at 19-21 weeks of pregnancy). If the diagnosis of “Harlequin fetus” is confirmed, termination of pregnancy is indicated.

In order to diagnose the disease, in most cases, clinical manifestations are sufficient, in connection with which treatment can also be prescribed. Congenital ichthyosis can be confused by external signs with erythermoderma or other pathology.

Histological examination will help to finalize the diagnosis.

Using ultrasound, congenital ichthyosis can be diagnosed starting from 16-20 weeks of pregnancy. In this case, doctors recommend an abortion.

In other forms of ichthyosis, peeling of the skin may begin several weeks after birth. A physical examination is usually sufficient to make a diagnosis, and sometimes a skin biopsy may be performed.

Since the external manifestations of lamellar ichthyosis are quite noticeable, even a general examination of the affected areas of the body allows you to get a preliminary idea of ​​​​the existing disease. However, a more precise diagnosis can only be made with additional laboratory tests.

Active sweating in this disease is typical in those areas that are affected: denser and redder skin has a disrupted thermoregulation process, which leads to sweating. The skin is tense and actively peeling, which can become a sign of lamellar ichthyosis during diagnosis.

Making a diagnosis such as ichthyosis requires a mandatory visit to a dermatologist. The doctor can make a diagnosis based on a visual examination. To clarify the patient’s condition, the following diagnostic methods can additionally be used:

• histological analysis of skin tissue;
• biopsy of the fetal dermis between 19 and 21 weeks of pregnancy.

Treatment

Reducing the manifestations of ichthyosis and improving the condition of the skin allows you to correct the patient’s condition, but you should know that there are no special treatment methods for a complete cure for this disease.

Therapy of the disease consists of the use of vitamin A, which improves both the general condition of the skin and ensures the normalization of the process of keratinization of the epidermis.

In a therapeutic way

In parallel with medicinal treatment methods, the following recommendations should be followed:

Medical researchers have not yet found a cure for ichthyosis; today, treatment for ichthyosis comes down to controlling your symptoms and providing relief from the disease.

There are no specific drugs or methods of treating ichthyosis. The main principles of treatment are the use of vitamin A derivatives.

For these purposes, oral retinol palmitate is prescribed in a daily dose of 3.5-6 thousand units per 1 kg of body weight. The duration of the course of treatment is about 2 months, followed by transition to maintenance doses.

Intervals between courses of treatment are 3-4 months.

Complex therapy also includes drugs containing zinc, which must be taken in courses lasting at least 3 months - “Zincteral”, “Zincit”, “Zinc”. At the same time, other vitamins are prescribed - mainly vitamins “C”, “E” and group “B”.

Careful and proper skin care is required using external moisturizers and vitamins. Recommended moisturizing creams for ichthyosis must necessarily contain vitamin “A” derivatives.

Treatment at home consists of daily bathing. The water temperature should be around 38°C.

How to wash with ichthyosis? Do not use soap or take cool showers. Soap can sometimes be used only to treat areas with diaper rash.

It is best to use special body gels containing natural oils and extracts of medicinal plants, white (resin-free) naphthalan, and emolium-triactive emulsion for bathing.

You can add starch solution or saline solution to the bath. Herbal medicine is also used in the form of infusions of chamomile, calendula, sage, string, and a decoction of birch buds, added to the bath when bathing.

After taking a bath, for better separation of scales, it is necessary to rub in a cream with vitamin “A” with the addition of salicylic acid (1%) and multivitamin salt (0.25%), boron-salicylic ointment (2%), lotion containing urea, “Uroderm” (ointment with urea), “Solkokerasal” (ointment with urea and salicylic acid), etc.

Genetic forms of ichthyosis cannot be completely cured, and in acquired forms of this dermatological disease, the patient is indicated for therapy for the underlying disease that caused this pathology.

Research is currently underway aimed at creating drugs that would be able to influence altered genes and promote their restoration.

It is quite possible that their creation will allow patients with hereditary forms of ichthyosis to get rid of this unpleasant and serious disease.

Treatment of all forms of ichthyosis is carried out by a dermatologist. The need for hospitalization of the patient is determined by the severity of the clinical case.

Patients with various forms of hereditary ichthyosis can be prescribed the following drugs:

Traditional healers give a lot of advice for those who suffer from scaly skin. They are all different and are aimed at somehow alleviating the course of the disease and reducing discomfort.

However, remember, you should follow the advice of people who have questionable attitudes towards medicine with caution. If a grandmother at the market insistently slips you a drug “for the disease Schleimann’s ichthyosis,” which does not exist in nature, then it is better to stay away from such an “intern.”

But in folk medicine there are really worthwhile recommendations. Basically, these are teas and baths with herbal decoctions.

There are also recipes for homemade ointments that are aimed at moisturizing, disinfecting and nourishing the skin. They all consist of natural ingredients and are easy to prepare at home.

Perhaps you will find a few effective and simple recipes for yourself.

Geneticists and laboratories in many countries are working to find a cure for people suffering from genetic diseases. We can only hope that a panacea will soon be found, and we will be able to forever rid humanity of such an unpleasant and even terrible disease.

Trichophytosis - causes and signs, symptoms and treatment

There is no specific treatment for ichthyosis, only treatment of symptomatic manifestations: maintaining respiratory function, stabilizing hormonal levels. Particular attention is paid to skin care complexes:

Taking a warm bath every day with rubbing the skin with fatty creams and Vaseline;

Taking retinol (vitamin A) orally and rubbing it into the skin;

Cyanocobalamin injections;

Use of creams with 10-15% urea content;

For severe ichthyosis, hormonal ointments are used.

The disease is chronic, lasts a lifetime and even progresses. Symptoms weaken or disappear altogether in warm and humid climates, so air humidifiers significantly alleviate the patient’s condition.

Harlequin ichthyosis photo

You should know that there is no complete cure for this disease; however, modern medications and an integrated approach can significantly improve the general condition of the patient and restore skin health.

After diagnostic studies, the entire course of treatment is carried out only under the supervision of a dermatologist.

The severity of the disease determines the treatment approach; In severe and advanced forms of the disease, treatment is recommended in a hospital. Typically, the course of treatment includes taking vitamin A and its derivatives, which have a positive effect on the condition of the skin.

Vitamin A is usually prescribed for all forms of ichthyosis, and its amount depends on the severity of the disease. Its long-term use lasts from 3 to 5 weeks. then follows a week-long break, after which reception can be resumed depending on the condition of the skin.

Even after effective treatment, redness on the skin can remain for a long time, in some cases for life.

By medication

For external use in cases of severe lamellar ichthyosis, agents can be used to eliminate increased skin dryness and flaking. This could be Vaseline, cream for external use Dematop.

They are applied to cleansed areas of the affected skin and left until absorbed. Increasing skin elasticity, reducing the production of active substances in the epidermis and saturating the skin with lipids are the main manifestations of the effects of the listed products.

Hormonal-correcting measures can improve the condition of affected skin. Since this disease often causes changes in the functioning of the thyroid gland, an endocrinologist may prescribe hormonal therapy to normalize the functioning of the thyroid gland. Such drugs include:

• Tyreocomb;
• Thyrotome;
• Thyroidin.

If the pancreas is insufficiently active, insulin may be prescribed. However, the treatment regimen is individual and is prescribed by an endocrinologist.

Treatment is aimed at relieving symptoms and restoring normal keratin synthesis in the body. For this purpose, the following drugs are used:

Lamellar ichthyosis is an incurable disease, but modern methods of therapy can reduce the severity of the characteristic symptoms and significantly reduce the frequency of relapses.

The complex of treatment for lamellar ichthyosis may include the following items:

1. Vitamin therapy: A (up to 30 drops twice a day), E, ​​PP, C, group of vitamins B (as part of vitamin complexes). Long courses for 2-3 months, repeat after a break (in total, repeat the course 2-3 times a year). Prescribe Etritinate, Tigazon, Atricetin (the active ingredients of the drugs are derivatives of vitamin A): 0.5 mg/kg of the child’s body weight.
2. Hormone therapy. The corticosteroid group is prescribed for severe symptoms and diagnosed malfunctions of the humoral system. Corrective medications are prescribed by a doctor taking into account the child’s age and general health. The treatment regimen and dosage must be strictly followed.
3. Keratolytics. An aqueous solution of Propylene glycol is used - applied to the skin and covered with plastic wrap overnight. After a course of treatment, the duration of which is determined by the doctor, maintenance procedures are carried out as needed (once every 7 days, month).
4. Skin care: moisturizers with vitamin A. For older children and adolescents, it is possible to use preparations based on urea and salicylic acid to soften keratinized particles. The following products are used: Losterin, Topicrem, Videstim, Dermatol, Emolium, La-Cree, Medela (lanolin), 1% white mercury ointment, solcoseryl or 1% salicylic acid ointment, petroleum jelly, almond oil.
5. Physiotherapy: balneotherapy, mud therapy, ultraviolet irradiation (course of up to 30 sessions in a row with a break of a month).

Attention! Therapeutic measures can make the patient’s life easier, but a complete cure of the disease is impossible.

Ichthyosis often occurs with concomitant infections - in this case, a course of antibiotics is used.

Lamellar ichthyosis is a disease that requires constant therapy. When a child is born with a severe form of this disease, the survival rate is about 20%, but with late manifestation, the pathology extremely rarely becomes a threat to life.

Complications

In the absence of treatment or the wrong choice of treatment method, the manifestations of the disease are likely to worsen, which significantly worsens the overall quality of life of the patient.

Swelling of the skin may appear, weakening of its functions, and in infancy, with the active development of complications, death is likely.

Complications of lamellar ichthyosis include the transition of the initial form to a more advanced one, when the symptoms are already expressed as strongly as possible and cause discomfort to the patient. The increase in infant mortality if they have this disease is insignificant.

Sources

• https://dermhelp.ru/disease/ihtioz
• http://heal-skin.com/bolezni/other/ixtioz-kozhi.html
• http://badacne.ru/kozhnye-zabolevaniya/ihtioz-kozhi-foto.html

Skin ichthyosis in children is a congenital pathology that can lead to various consequences. The disease is incurable. Science has figured out the causes of the disease, but still cannot understand all the biochemical processes occurring in the body.

Therefore, no medicine has yet been found that can completely heal those suffering. But the measures that modern medicine offers contribute to long periods of remission.

Skin ichthyosis in children photo with description 6 pieces

Ichthyosis of the skin in children. Causes

Scientists' opinions on this matter are divided. Most of them believe that the main cause of the pathology is a gene mutation. Other researchers think that the reason lies in malfunctions of the thyroid gland and hormonal disorders.

Children most often suffer due to heredity. The current mutation prevents the formation of a normal stratum corneum, which is covered with scales, cracks, and formations. Fat and protein metabolism are disrupted, cholesterol increases, and the number of amino acids increases.

The disease can be inherited as an autosomal dominant trait. The initially dry, whitish dermis is covered with whitish, gray-black scales. With other types of illness, the baby’s body becomes bright red.

With a mild degree of the disease, the so-called abortive course, the symptoms are mild. This is only a slight peeling and dryness on the extensor limbs. But even here it is necessary to intensively care for the affected areas.

At birth, all babies are covered, as it were, with plates, a kind of shell. After a short time, peeling begins, the top, thick layer comes off. After exfoliation, doctors determine the exact diagnosis. Particularly severe cases appear immediately.

Is skin ichthyosis dangerous for children? Severe illness can be fatal. With this diagnosis, 2-3% of babies survive, but only thanks to careful care. After birth, they are immediately sent to intensive care wards. Those born prematurely are placed in special feeding chambers.

Even during pregnancy, the expectant mother can find out about the disease of the fetus through a biopsy. The doctor takes a scraping and makes a diagnosis. The decision always remains with the parents.

Ichthyosis in children. Symptoms

Adults do not always inherit the mutating gene; they can get sick when their immunity decreases or from old age. Ichthyosis in children is always hereditary and develops against the background of a slow metabolism. The main symptoms include the following:

• violation of thermoregulation;
• increased skin dryness;
• dehydration;
• cracks in the dermis;
• dystrophic changes in hair structure, dryness, loss;
• mucoid formations on the skin in the form of scales;
• eyelids turned out;
• stretched or narrowed mouth (severe form);
• deformation of the ears;
• webbing between the fingers (harlequin shape);
• splitting of nails;
• multiple caries.

With congenital ichthyosis of the skin in newborns, constant care is required. The plates can tighten the baby's organs tightly, causing their deformation. If the skin plates have severely tightened the baby's mouth, feeding is only possible through a tube.

A child suffering from mild ichthyosis does not require such intensive care. It is enough to take vitamin courses and choose the right diet. Creams and water procedures are carried out daily.

Raikin ichthyosis in children

This is the most severe form of the disease. Newborns are immediately born with pathologies. The skin, covered with thick plates, tightly swaddles the baby, causing internal organs to suffer. As a result, skeletal disorders and difficulty breathing are possible. It is with this form that patients have inverted eyelids and their eyes do not close even at night.

For eye care, the ophthalmologist prescribes special drops. These children are bald because the hair follicles are covered by scale-like formations. They are fed through a tube because the mouth is narrowed due to the dense dermis. The ears may not be visible as the affected skin grows to completely cover them.

Raikin ichthyosis in newborns has its own signs. At birth, the baby’s entire body is covered with formations in the form of rhombuses and polygons. It is because of this feature that the disease began to be called Harlequin. After a short period of time, the thick plates begin to peel off.

The baby's dermis becomes bright pink, and thin plates remain on it. She is very dry and dehydrated. Patients spend a lot of time in baths to saturate the stratum corneum with moisture. After water procedures, the dermis is lubricated with Vaseline.

As a rule, babies with this diagnosis die a few weeks or months after birth. They may have severe disabilities that are incompatible with life. Due to compression, internal organs begin to function improperly. A rare percentage of patients survive and reach the age of 12 years. Even fewer grow to 18-20 years of age. They are constantly fighting for their lives.

How to treat ichthyosis in children?

A team of specialists works with sick children. Therapy depends on the degree of the disease and age. Skin ichthyosis in children has many varieties, and appropriate treatment is selected.

Babies just born are immediately sent under the supervision of a specialist. Ichthyosis in newborns requires special attention and effort from the treating staff and relatives. They must be constantly observed and not abandoned.

Raikin's ichthyosis requires enhanced care, since this is the most severe form of the disease. The baby's entire body is covered in spots. Depending on the symptoms in children with ichthyosis, the doctor selects the appropriate treatment.

Both parents are not always sick. Interestingly, ichthyosis does not develop in women who are carriers of a mutated X chromosome. But men will definitely be born with pathology. Unfortunately, the disease is completely incurable. Scientists do not fully understand how the biochemical processes in the mutating gene operate.

Modern medicine can relieve symptoms, improve the well-being of those suffering, and improve the quality of life. Many people get rid of scales, the stratum corneum is cleansed, and the healing effect lasts for a long time. Sick children are observed by a group of doctors:

1. Dermatologist (main treatment).
2. Pediatrician, therapist, family doctor (immunity enhancement, general strengthening courses).
3. Otorhinolaryngologist (hearing treatment).
4. Ophthalmologist (eye treatment).
5. Cardiologist (monitors the condition of the heart).
6. Psychologist (relieves stress, depression, increases self-esteem).

There are many ways to combat the disease.

Treatment with drugs.

Creams, ointments, and gels for external use are used. Their composition should include urea, keratolytics, antibacterial and antimicrobial substances. They are used as prescribed by specialists for daily and night care.

Vitamin and mineral complexes.

Injections are usually prescribed. The group of essential vitamins includes A, B, C, E, nicotinic acid. The dosage is calculated by the doctor, depending on the patient’s condition. In mild forms of the pathology, the patient can take a full range of vitamins and minerals in tablets and capsules. The course lasts one month.

Vitamin A and its analogues improve the well-being of sufferers. The dose is prescribed by the doctor, since in large quantities they cause side effects and are toxic. Vitamin therapy has a beneficial effect on the health of patients.

Hydrotherapy

Water procedures are simply necessary for this pathology. They moisturize dry dermis and saturate it with useful elements. Soda, starch, pine needles, and minerals are added to medicinal baths.

Heliotherapy

Treatment with sunlight is also used in the fight against the disease. Infrared rays are collected into a beam using a special preparation. Then it is directed to the affected areas and held for the required time.

Thalassotherapy

Treatment by the sea improves the well-being of patients and increases immunity. Sufferers are prescribed sea bathing, sand baths, therapeutic mud, and walks. Seaweed and seafood are also used in the healing process.

Diet therapy

Products that are beneficial for patients are selected by a nutritionist. He makes a menu for the patients. The following must be included in the diet:

• lactic acid products;
• porridge;
• fruits, vegetables (preferably red, yellow);
• cheeses (all varieties);
• meat (game, beef, chicken, pork);
• seafood.

Climatotherapy

Gifts of the Dead Sea - ways to help the sick. Therapeutic mud, algae, minerals, and walks improve immunity. Sand and mud baths improve well-being.

Spa treatment

Sanatoriums and resorts can permanently improve the condition of patients. Irradiation with a UV lamp, hydrogen sulfide and carbon dioxide baths promote healing. Here you can undergo phototherapy (irradiation with special rays).

Treatment of ichthyosis in children with traditional methods

Herbal treatment can relieve pain and relieve symptoms only temporarily. But even with this effect, the dermis receives more moisture, nutrients, and is saturated with necessary elements. With this method, herbal infusions are prepared, an ointment is prepared from pig fat and herbs.

The following raw materials can be used: horsetail, tansy, rowan, oats. The herb is also added to baths. After water procedures, the body is lubricated with Vaseline. The water should not be too hot. Sea buckthorn and vegetable oil are added to the herbs and lotions are made.

Prevention of ichthyosis in children

Consultation with a geneticist can help future parents. The test will show whether any of them is a carrier of the mutating gene and what kind of offspring they will have. If a woman is pregnant, doctors can diagnose the baby's disease while it is still in the womb, starting from the 16th week of pregnancy.

Specialists do a biopsy of fetal skin scraping, but the procedure is not safe. If the mother knows that the child is already seriously ill, the decision remains with her. There are no other preventive measures against the pathology.

Currently, the fight against hereditary diseases is becoming increasingly important. Often people do not attach importance to minor changes in the condition of the skin, but even seemingly ordinary peeling can be a reason to contact a specialist. This symptom can be either a consequence of a lack of vitamins or a sign of a more serious illness.One of these dangerous diseases is ichthyosis. It leads to keratinization of certain areas of the baby's skin.

Hereditary skin disease – congenital ichthyosis

Features of the disease

Ichthyosis is a disease in which the body's metabolic processes are disrupted. Disorders of protein metabolism, increased levels of amino acids and lipids in the blood and urine lead to a deterioration in basal and lipid metabolism. As a result, heat exchange is disrupted, the skin “breathes” worse - the supply of oxygen to the body through the skin decreases.

There are malfunctions in the functioning of the thyroid gland, gonads and adrenal glands. Sweating is impaired. As a result, immunity decreases and metabolism deteriorates. These processes lead to the following symptoms:

• redness and irritation occur on the skin;
• dry skin cracks (we recommend reading:);
• persistent inflamed areas are formed.

The above phenomena lead to the formation of hard scales resembling fish scales, which is why the disease gets its name. The scales are difficult to separate from the skin, disturb the child, and create discomfort.

Forms of skin ichthyosis and characteristic symptoms

The disease is classified into several forms:

1. Ichthyosis ordinary or vulgar is the most common form. It is detected before the age of 3 months, but progression of the disease is possible before 3 years. Ichthyosis vulgaris primarily affects the delicate skin of the armpits, knee and elbow bends, and groin area, but can be observed on any part of the body. The disease begins with drying out of the skin, then it becomes covered with small whitish or grayish crusts. At the same time, children experience problems with their teeth, the condition of their nails and hair worsens, and conjunctivitis occurs. The disease weakens the immune system, opening the door to infection. Damage to the cardiovascular system and liver is possible in the future. However, an abortive course of the disease is possible, when recovery occurs abruptly, without going through all stages.
2. Congenital ichthyosis occurs during intrauterine development, at 4-5 months of pregnancy. The skin of a newborn is covered with black or gray horny crusts already at the moment of birth. The disease affects both the development of internal organs and the appearance of the baby. The mouth becomes stretched or narrowed, making feeding difficult. The ears have an unnatural shape, the eyelids turn out. Possible skeletal disorders, the formation of membranes between the fingers, and absence of nails. The disease sometimes leads to premature birth, fetal death, and death of the newborn in the first days.
3. A severe form of ichthyosis is lamellar. The baby is covered with large plates that create a shell. The course and consequences are very severe.
4. The recessive form is characteristic exclusively of men and is transmitted by the X chromosome. The presence of the disease can be determined in the 2nd week of life, sometimes even earlier. The body is covered with large dark brown plates, with cracks located between them. The disease is accompanied by serious consequences in the form of mental retardation, epilepsy, and skeletal disorders.
5. Epidermolytic ichthyosis is also congenital. The newborn's body is bright red. The crusts are easily removed, and hemorrhages into the skin are possible, leading to the death of the baby.

Photo of the skin of a newborn with ichthyosis

With a less severe course of the disease, the area of ​​red areas is reduced, but relapses are possible. Starting from the age of 3, dense gray growths form on the skin folds. The disease is accompanied by damage to the endocrine, nervous and cardiovascular systems, spastic paralysis, anemia, mental retardation and infantilism.

The severity of the disease depends on the depth of the gene mutation. Sometimes the only manifestation of the disease is dry skin and slight flaking. The most common are ordinary and recessive forms of the disease in children.

Causes of the disease

The main cause of this dangerous disease is considered to be a gene mutation. Manifestations of the disease are observed from generation to generation. The keratinization of the skin is caused by a failure of biochemical processes in the body.

Medicine cannot yet determine the causes of gene mutations. However, it is known that protein metabolism disorders lead to the accumulation of lipids and amino acids in the blood. The activity of enzymes responsible for oxidative processes in the skin increases. Skin respiration and thermoregulation are impaired.

Some forms of ichthyosis are acquired and affect a person after 20 years of age. Acquired ichthyosis is caused by diseases, hypovitaminosis, and taking a number of medications.

Acquired ichthyosis may appear after 20 years of age

Why is skin disease dangerous in children?

Ichthyosis is a skin disease that disrupts the normal functioning of the entire body. Death with congenital ichthyosis of newborns is not uncommon. However, even in cases where the child does not die, the disease leads to life-threatening pathologies.

Disturbances in the functioning of the nervous system in children are fraught with developmental delays, various forms of mental retardation, and threaten epilepsy. The disease affects the structure of the skeleton, deforms the limbs, and leaves its mark on the appearance of the child.

The only way to avoid trouble is to plan your pregnancy. Those people who have at least one family member with this hereditary disease need to undergo a thorough examination. If there is no confidence in a normal pregnancy, it is better to refuse to have a child; congenital ichthyosis cannot be treated.

Rules for child care and treatment of ichthyosis

Modern medicine is not able to offer treatment that will help the child recover. However, this does not mean that his condition cannot be alleviated. Dermatologists have a number of tools in their arsenal that will help the baby.

It can be:

1. Drug therapy, taking vitamins A, B, E, C. Frequent repetition of courses of vitamin therapy can alleviate the course of the disease and avoid exacerbations. The baby is also prescribed corticosteroid hormones, drugs containing lipamide and vitamin U, which soften the skin and reduce keratinization. Sometimes the child is given a transfusion of donor blood plasma.
2. Local treatment consists of stimulating the metabolic processes of the skin. These can be physiotherapeutic procedures: ultraviolet irradiation, mud therapy, heliotherapy. Various types of baths are shown: starch and carbon dioxide baths with the addition of vitamin A.
3. At home, it is necessary to take careful care of the skin and carry out medication treatment in accordance with doctor’s prescriptions. After consulting with a specialist, you can supplement treatment with traditional medicine. A healing ointment based on St. John's wort oil and herbal infusions for oral administration and skin care are recommended.

The result of the treatment depends greatly on the form of the disease. Vulgar and X-linked recessive ichthyosis does not threaten the baby’s life if treatment is carried out on time and exactly as prescribed by the doctor.