Ichthyosis in newborns - causes, diagnosis, treatment. Ichthyosis of the skin in newborns: is this disease dangerous, what to do and how to treat the baby? Congenital ichthyosis causes

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

ICD-10

Q80

General information

Congenital ichthyosis is a hereditary dermatosis characterized by impaired keratinization processes. An accurate description of the disease was given by Robert Willan in 1808, the term "ichthyosis" was proposed by V. 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, 1:100000 for epidermolytic ichthyosis, 1:300000 for lamellar ichthyosis. Sex differences were not found, except for the X-linked form of congenital ichthyosis, which is diagnosed only in boys. The urgency of the problem in pediatrics is associated with often belated diagnosis and the 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 the genes responsible for the proper development of the epithelium. Mutated genes are passed from generation to generation, that is, the disease is inherited. The primary causes of the mutations themselves are not known for certain, 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 contributes to the retention of moisture by the skin, and in this case this function is disturbed. 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 an accelerated movement of keratinocytes to the skin surface, that is, their rapid change. The result is extensive inflammatory processes, violations of thermoregulation and a high risk of secondary infections.

At the heart of epidermolytic ichthyosis is a violation of the synthesis of keratin, due to which skin cells become unstable. This contributes to the formation of bullous blisters characteristic of this type of congenital ichthyosis. Rarely occurring ichthyosis of the fetus develops in utero and is caused by a violation of lipid transport, as a result of which the barrier function of the skin is impaired.

Classification of congenital ichthyosis

There are several classifications of the disease according to 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 differ. The first two types are not related to sex, the mutated gene must be present in a dominant and recessive form, respectively. X-linked ichthyosis is inherited recessively, manifests itself 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 clinical manifestations ichthyosis can be severe, moderate and late (does not appear immediately after birth). Congenital ichthyosis can be not only an independent disease, it is also present in the structure of some syndromes, such as Netherson's syndrome, Refsum's syndrome, Rud's syndrome, Sjögren-Larsson's 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, there is always a pronounced dry skin and peeling. The affected areas are located on the extensor surfaces of the joints, especially the legs. The face remains intact, with rare exceptions when the skin of the forehead and cheeks is involved in the process. Also characteristic is follicular hyperkeratosis - the accumulation of keratin in the hair follicles. Occurs on almost the entire surface of the skin where hair grows. It is found on palpation in the form of the so-called "grater" symptom. The skin on the palms and soles is thickened, the skin pattern is enhanced, grooves stand out between the areas of thickened skin. In patients, there is a decrease in 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 is often almost leveled by the age of 20-25. At the same time, changes in the palms and soles that are characteristic of this form of the disease remain. Often congenital ichthyosis of this type is accompanied by allergic diseases in the form of rhinitis, urticaria, bronchial asthma. In most cases, damage gastrointestinal tract: gastritis , colitis , biliary dyskinesia , hepatosplenomegaly . On cellular level changes are identical to those in skin cells.

X-linked congenital ichthyosis manifests itself 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 anything, 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. Of the other signs, a specific flower-shaped clouding of the cornea is often found 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 manifests itself from birth. The skin of a newborn is covered with a thin but dense film - this is a pathognomonic symptom of this type of congenital ichthyosis. Gradually, the film transforms into large thick flakes from light to brown. Due to blockage of the sweat glands, sweating is impaired, so hyperpyrexia is often observed. On the palms and soles - deep cracks and keratoderma. The grooves between the scales are painful and are gateways for 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 cartilages of the nose, fusion of the phalanges of the fingers or the absence of terminal phalanges, etc.

Epidermolytic congenital ichthyosis is manifested by extensive wet erythroderma with the formation of bullous blisters. Erosions remain at the site of the opening of the bubbles, which pass without a trace. Over time, rough keratinization joins, warts often form. Horny scales dark, with bad smell(consequence of a secondary infection). Mucous membranes in this type of congenital ichthyosis are not affected, sweating is also not disturbed. However, this form of the disease is very dangerous and can be fatal.

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

Diagnosis of congenital ichthyosis

During pregnancy, amniocentesis followed by amniotic fluid analysis, as well as chorionic villus biopsy, can be used for diagnosis. However, invasive methods increase the risk of spontaneous abortion, so they are rarely used in practice. An indication for prenatal biopsy is a burdened history of congenital ichthyosis. Ultrasound in the III trimester allows you to diagnose fetal ichthyosis. A markedly fixed position of the hands and an open mouth, one can see hypoplastic nasal cartilage and non-specific signs in the form of polyhydramnios and increased echogenicity of the amniotic fluid. Other forms of congenital ichthyosis can only be suspected.

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

Often clinical picture disease is nonspecific, therefore, differential diagnosis is mandatory. It is necessary to exclude acquired forms of ichthyosis, dermatosis (psoriasis, eczema, contact dermatitis, congenital syphilis, etc.), atopic dermatitis. So, dermatitis is characterized by the presence of an inflammatory process, itching, eczema, etc. However, often congenital ichthyosis is 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 due to 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 case of severe forms of congenital ichthyosis - in the intensive care unit. The room must be kept at a high level of humidity and low temperature air. A hypoallergenic diet is usually indicated, in severe cases - feeding through a tube. It is recommended to take baths from 2 times a day. This allows you to moisturize the skin, reduce peeling and prevent secondary infections. In the case of epidermolytic congenital ichthyosis, antiseptics are often used during bathing. After bathing, as a rule, mechanical exfoliation is carried out, followed by the application of a moisturizer.

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

TO modern drugs include blockers of the metabolism of retinoic acid, for example, liarozol. With treatment, the same clinical effect is noted, 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 funds are applied to the affected areas of the skin and have a local effect, helping to exfoliate, soften the skin, reduce 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 of the first year of life.

In the treatment of severe forms of congenital ichthyosis, systemic corticosteroids, immunoglobulins, and antibiotics, if necessary, are used. It is obligatory to consult a pediatric ophthalmologist in the diagnosis of ectropion, a pediatric otorhinolaryngologist in case of deformity and absence of the auricle, as well as for the diagnosis and treatment of hearing impairment, 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 mandatory. A geneticist is also involved in the treatment to plan subsequent pregnancies and calculate the likelihood of disease in future generations.

Prediction 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, however, the quality of life is still reduced 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 a pregnancy in case of a burdened history of this disease, that is, if one and even more so both parents are sick, or one of them is a carrier of the mutation. In this case, it is recommended to refrain from pregnancy, but in any case, the final decision is made by the family. As an option, couples are offered IVF and adoption.

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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 is covered with scales that look like fish scales. Ichthyosis is characterized by its early onset (the first 3 years of life). Ichthyosis leads to profuse 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 practically does not cause discomfort and a person can live with it all his life. But sometimes, congenital ichthyosis can lead to severe skin lesions in a child, 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 is called vitamin A deficiency, as well as the appearance of diseases endocrine system. The main pathological process is the excessive production of keratin (skin protein).

Types of ichthyosis:

There are the following forms of ichthyosis:

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

ichthyosis vulgaris

Vulgar, or it is also called ordinary, is the most common form of ichthyosis. According to statistics, ichthyosis vulgaris occurs in people in about 75 - 95% of cases among all forms of ichthyosis. In most cases, this form affects children 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 suggests that a genetic disease will manifest itself in a child when he inherits a mutant allele (one of the forms of a gene that leads to an alternative developmental option) from at least one of his parents. It is important that this type of hereditary disease does not depend on the sex of the child and manifests itself in girls and boys with the same frequency.

Pathological disorders are generalized and extend to almost the entire skin. The skin becomes very dry, peeling appears, and the skin thickens. Skin glands (sweat and sebaceous) practically do not function. The main feature of ordinary ichthyosis is the defeat of the extensor surfaces of the upper and lower extremities. The extensor surface of the elbows, ankles and knee joints, as well as the region of the sacrum. In children, the skin of the face 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 ichthyosis vulgaris, 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 (decrease 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 should be noted that with this form of ichthyosis, the flexion zones elbow joints, armpits, popliteal fossae, as well as the inguinal zone are not affected.

The main clinical forms of ichthyosis vulgaris include:

• Xeroderma. Xeroderma is the most easily flowing form of ichthyosis vulgaris. Xeroderma leads to dryness and slight roughness of the skin, which most often appears on the extensor surfaces of the limbs.
• Simple ichthyosis. Simple ichthyosis is characterized by unexpressed symptoms. The main symptom is dry skin, combined with its peeling. Horny scales look like bran (bran scales). The difference from xeroderma is that not only the limbs are affected, but also the trunk. Often you can see the defeat of the scalp. 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 ​​​​hair follicles. Rarely, horny scales look like a mosaic.
• Serpentine ichthyosis. Serpentine ichthyosis is characterized by the appearance of ribbon-like brown or gray scales. With serpentine ichthyosis, horny scales are surrounded by deep grooves that resemble a snake 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 appears due to a defect in the protein transglutaminase. This protein regulates the process of differentiation of keratinocytes. A defect in the transglutaminase protein leads to hyperplasia (excessive growth) of the basal layer, in which there is fast growth keratinocytes and their transition from the basal layer to the stratum corneum.

With lamellar ichthyosis, the child's skin is redder and completely covered with a thin yellow-brown film. Sometimes this film is transformed 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 increases with age. At the same time, there is a regression of erythroderma (skin redness decreases). The most severe lesions occur in the skin folds. The skin on the face in most cases is redder, stretched and flaky. As a rule, sweating is increased, especially in thick areas of the skin.

X-linked ichthyosis

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

According to statistics, X-linked ichthyosis occurs in about one in 2500 - 6000 men. This form of ichthyosis appears already at the 2nd week of life. X-linked ichthyosis looks similar 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 disease

Darier's disease (follicular dyskeratosis) is one of the clinical forms of congenital ichthyosis. Darier's disease leads to mental retardation of 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 process of keratinization, abnormal bodies and grains appear in the germ layer.

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

Ichthyosiform erythroderma

Ichthyosiform erythroderma (Brock'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 foci appear on the skin. Also, Broca's disease is 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 with age most often regress (decrease).

Symptoms of ichthyosis

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

• Dry skin is a direct consequence of a violation of the water-salt balance. With ichthyosis, the epidermis is not able to retain fluid. Dryness of the skin directly depends on the amount of fluid lost.
• Peeling - appears due to excessive exfoliation of horny scales from the surface of the epidermis. In ichthyosis, the rate of desquamation of corneocytes 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 the nails - occurs due to a defect in the synthesis of keratin (the main protein of the nail plate). Nails can thicken, flake off, and sometimes become significantly deformed. It is tedious to note that nail damage is not necessary for ichthyosis vulgaris.
• Thinning and brittle hair - occurs due to atrophy of the hair follicles and exposure to horny plugs. Thinning hair also appears due to a defect in the synthesis of keratin, which is found in large quantities in the hair shaft.
• Pyoderma (purulent-inflammatory skin disease) - occurs a second time due to a decrease in local immunity. For pathogens, the affected skin is very vulnerable. Most often, pyoderma occurs against the background of microtraumatism of the skin, as well as in case of itching.
• Conjunctivitis - a number of forms of ichthyosis may appear various lesions eye. The most common form is inflammation of the mucous membrane of the eye (conjunctivitis). Often there is an inflammatory process at the edges of the eyelids (blepharitis) and in the retina (retinitis).
• A pronounced skin pattern on the palms and feet is one of the most common symptoms of ichthyosis. The pronounced striation of the skin pattern indicates a hereditary skin disease.

Important! With ichthyosis of the fetus, children are often born much ahead of schedule, such newborns are not always viable.

Causes of ichthyosis

Ichthyosis is a hereditary disease, therefore main reason This skin disease is a gene mutation that is passed down 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 an excess of amino acids and cholesterol accumulates in the blood, which leads to the appearance of a specific skin reaction. In patients with a gene mutation that leads to the development of ichthyosis, there is:

• violation of thermoregulation of the body;
• 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 work of the endocrine glands - sex, thyroid, adrenal glands. These symptoms may appear immediately or increase gradually as the disease progresses. The result is that patients develop a deficiency of cellular immunity, the ability to absorb vitamin A also decreases, and the activity of the sweat glands is disrupted. This increases the chance of detecting such diseases of the sweat glands as hydrocystoma, syringoma, eccrine spiradenoma.

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

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 the course. Most often, treatment is carried out on an outpatient basis, but in severe forms of the disease, the patient may be placed in a hospital.

In the treatment of ichthyosis, the following methods are suitable:

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 has the effect of softening the scales on the skin.

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

Patients with ichthyosis are prescribed blood plasma transfusions.

With bad work thyroid gland, pancreas, adrenal glands, characteristic of this disease, the doctor selects hormone replacement therapy. Hormones are used to treat severe ichthyosis, especially in newborns.

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

Under local treatment ichthyosis in children, the appointment of baths with a solution of potassium permanganate is understood. Adult patients are prescribed baths (local or general, depending on the location of the skin lesion) with the addition of sodium chloride, starch, 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. In this disease, effective procedures are thalassotherapy, ultraviolet irradiation, carbon dioxide and sulfide baths, heliotherapy. During periods of disease remission, preventive measures prescribe peat and silt baths, and the use of aromatic retinoids is also necessary.

Treatment with traditional medicine

Along with the therapy prescribed by the doctor, it is recommended to additionally use medicines 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 to patients:
Short sun baths. Take them in the morning until 11 o'clock.

Topical preparations

For the treatment of ichthyosis, various topical preparations are used that can moisturize the skin, and they also contribute to the exfoliation of horny scales (keratolytic action).

• Vaseline is an ointment for external use. It softens and moisturizes the skin in the affected areas, while having a moderate dermatoprotective effect.
• Dermatotop 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. Dermatope acts on 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 anti-allergic effect.
• Salicylic acid is a solution for external use, which has a moderate anti-inflammatory effect and has a keratolytic and disinfecting effect.
• Akriderm is an ointment for external use, which 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 - ointment for external use. Betamethasone dipropionate has anti-inflammatory, vasoconstrictive and antipruritic effects.
• Videstim is an ointment for external use, it has a membrane-protective effect, promotes the process of regeneration of the skin and significantly reduces the process of keratinization. When it penetrates deep into the skin, it helps to saturate the tissues with vitamin A.

Physiotherapeutic methods of treatment.

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

For the treatment of ichthyosis, the following physiotherapy procedures are used:

• Therapeutic baths are soothing and good effect on the human nervous and cardiovascular systems. Therapeutic baths improve metabolism in the affected areas of the skin. Depending on the main component, there are different types medical baths. It is important that the appointment of therapeutic baths is contraindicated in acute inflammatory process or exacerbation of a chronic disease, with blood diseases, as well as with oncological diseases.
• Oxygen baths are a type of gas baths. The main substance is oxygen, which is in dissolved form. The temperature of the water in the bath should be between 34 and 36ºС. 200 ml of a 2.5% solution of potassium permanganate (potassium permanganate) is added to the water, after which the water must be thoroughly mixed. Then add 40 ml of 20% sulfuric acid solution and 200 ml of hydrogen peroxide solution, then mix. After 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 200 g is enough for a local bath. cold water and then pour this mixture into the tub. Water temperature: from 34 to 36ºС. Duration of the procedure: no more than 25 minutes for adults, and for children - no more than 10-12 minutes. Course of treatment: 10 baths.
• Medium-wave ultraviolet irradiation (SUV-irradiation) in suberythemal and erythemal doses has a beneficial effect in the treatment of ichthyosis. This physiotherapy procedure helps to form vitamin D in the skin, as well as vitamin D2. In addition, UV irradiation stabilizes the metabolism and saturates the body with vitamins A and C. Currently, it has been proven that UV irradiation increases the concentration in the body of some biologically active substances that directly affect the endocrine system. Also, medium-wave ultraviolet irradiation helps to increase the resistant functions of the body and stimulates the human immune system.
• Thalassotherapy is a complex method of healing the whole body, which includes the use of various factors 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 methods of thalassotherapy leads to long-term moisturizing 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 with the help of sunbathing. Patients are placed on high trestle beds, the head must be covered with a headdress or kept in the shade. In order for the effect of 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 am to 11 am, in the afternoon from 4 pm to 6 pm. Air temperature: not lower than 20ºС. The first session of heliotherapy: 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. The maximum time of exposure 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.

Preparations

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, the appearance of systemic pathologies and the progression of metabolic disorders begin, which leads to the development of severe complications.

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Prevention of ichthyosis

Since ichthyosis is a hereditary disease, prevention mainly consists in getting advice from a geneticist even before pregnancy.

What is ichthyosis?

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

It looks like peculiar scales on the skin, resembling fish scales. Between these scales, amino acid clusters begin to form, which have cementing properties. So, the scales are tightly linked to each other, which is why their separation from the body becomes quite painful.

This disease is similar in symptoms to diffuse keratoma, hyperkeratosis, and various kinds of dermatoses. In addition, about 20 types of this disease are distinguished 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, with damage to the entire skin with small scales (ichthyosis vulgaris);
• transparent or shiny, with damage to the skin with transparent gray scales, in appearance resembling a mosaic (lamellar ichthyosis);
• scutular - on the skin there are thick horny plates superimposed on each other (Harlequin ichthyosis, epidermolytic ichthyosis of a late form);
• x-linked or blackening, with consistent intense damage to the skin with dense dark-colored scales.

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

• external and internal signs of the disease;
• the complexity of diagnosing the patient's condition and the form of manifestation of ichthyosis;
• prescribing a particular treatment.

There are several degrees of complexity of cutaneous ichthyosis:

1. Light form. This is a late manifestation of the disease, beginning at the age of 3 months to 12 years.
2. Medium 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 cause 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 a violation of fat metabolism, an increase in cholesterol and, subsequently, to a gene mutation that causes ichthyosis.

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

• hormonal disorders and diseases of the endocrine system;
• beriberi, especially vitamins of group A;
• an increase in the level of "bad" cholesterol in the blood;
• skin age changes;
• antisocial lifestyle.

Forms and symptoms of skin ichthyosis

ichthyosis vulgaris

Another name is ichthyosis vulgaris. The most common form is autosomal dominant. It is detected in children up to three months of age, but can progress up to the age of three. Affects the skin on any part of the body, except for the inguinal zone, armpits and popliteal cavities, elbows.

Symptoms:

• It starts 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, they become dry and brittle, caries appears, the nails exfoliate, 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 peeling 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, there is scope 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 about 4-5 months of pregnancy. The child is already born with skin covered with thick (up to 1 cm) horny shields of gray-black color, also dotted with furrows and cracks in between.

Due to the tight adhesion of the scales, the external organs of the baby are deformed:

• the mouth is either greatly stretched, or, conversely, narrowed so that a feeding probe barely passes into it;
• ear holes have an unnatural shape;
• eyelids - everted.

Concomitant pathologies become a consequence of congenital ichthyosis:

• skeletal disorders - clubfoot and clubhand;
• interdigital jumpers (webs) on the palms and feet;
• absence of nails.

The disease can cause premature birth, 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 "plate". It manifests itself from birth, as it also belongs to the congenital, and is very difficult.

A child is born completely covered with large scaly platinum, which make up a kind of "shell". Most of the 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, is inherited on the x chromosome. Its cause is a defect in placental enzymes. It is diagnosed already 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 streaked with cracks, which makes it look like a snake. Children with this disease usually have mental retardation, malformation of the skeleton, and epilepsy. In some cases (10-12%), hypogonadism or juvenile cataract appear.

Epidermolytic ichthyosis

Epidermolytic ichthyosis is a form of congenital ichthyosis. The whole skin of a born 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, there is hemorrhage in the skin and mucous membranes. In such a combination of circumstances, children most often die immediately. In milder cases of epidermal ichthyosis of the skin, the affected surface becomes smaller, but during life the disease periodically worsens, usually with an increase in body temperature to critical numbers.

Approximately at three years old in places of natural skin folds, layers in the form of thick dark gray scales begin to form.

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

• diseases of the endocrine system;
• cardiovascular diseases;
• pathology nervous system;
• oligophrenia;
• spastic paralysis;
• anemia;
• infantilism and others.

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

Photo

Diagnostics

The diagnosis is made by a dermatovenereologist. Due to the pronounced symptoms, diagnosing this disease is not difficult. Significant at the same time becomes differential diagnosis with similar dermatological diseases: psoriasis or seborrhea.

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 do a skin biopsy of the fetus, which is the only way to diagnose ichthyosis. This study carried out at the 19th-21st week of pregnancy.

Treatment

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

A dermatovenereologist can 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 keratinization of the skin;
• immunotherapy;
• donor plasma.

Hormonal drugs are prescribed for severe manifestations of ichthyosis, and, therefore, for its congenital forms. With a positive result of such treatment, gradually reduce the intake of these drugs.

Also hormonal preparations used in the treatment of severe forms of pemphigus.

The appointment and intake of hormonal drugs must be treated with special attention, taking into account, in addition to the form of the disease, the age of the patient, his body weight, as well as other features of his body.

With ichthyosis, you can not self-medicate. Many drugs have toxic properties and complex side effects. Therefore, in this matter, you need to fully rely on a competent specialist and constantly be under his supervision.

The treatment of ichthyosis also includes a special external care for the condition of the skin, which needs constant hydration:

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

In the treatment, various kinds of physiotherapy can be prescribed, aimed at stimulating metabolic processes in the tissues of the epidermis:

• ultraviolet irradiation;
• mud treatment;
• carbonic baths;
• heliotherapy.

Purpose inpatient treatment essential in severe disease.

It includes:

• hormone therapy;
• physiotherapy;
• immunotherapy;
• drug treatment, treatment vitamin complexes.

Home treatment includes:

• drug therapy;
• external skin care.

Description of the disease

Ichthyosis disease is the name of a rare genetic skin disease. Since ichthyosis is genetic mutation, this disease is not contagious - you cannot "catch" it in the course of 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 are found only 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 cornifications can be very diverse and it is quite difficult to single out the exact system in this case.

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 it is inherited by an autosomal dominant type of inheritance.

At the same time, mutated genes are inherited, they can control enzyme systems and the process of skin keratinization. This mechanism has not been completely deciphered.

Physiological keratinization of epithelial cells and the formation of the stratum corneum proceed "softly" and consist in the division of germ cells and their movement into the upper layers of the skin.

The lower layer of fresh epithelial cells under normal conditions 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 cells of the epidermis to move to the skin surface and promotes the transfer of all the substances that they contain.

The result of a violation of keratinization processes, leading to various skin diseases called keratosis, or hyperkeratosis, is a delayed rejection of keratinized epithelial cells and/or a pronounced increase in the thickness of the stratum corneum.

A huge variety of features of clinical manifestations, a diverse morphological picture, the presence of rare forms, the lack of an unambiguous view of researchers on the causes and mechanisms of development of hyperkeratosis, which includes a large group of diseases united by the term "ichthyosis", have not yet allowed clinicians to develop a certain unified classification.

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

It is known that mutations lead to a change in many biochemical processes in the patient's body, which are manifested by a violation of the keratinization of the skin.

As a rule, signs of congenital ichthyosis are observed in a child immediately after his 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 causes are violations in the process of keratinization of the epidermis.

This may be 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 most often can develop with a pronounced defect in the transglutaminase protein, which regulates the formation of keratinocytes.

It 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 following factors are among the probable causes of this skin pathology:

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

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

Also, a similar picture is accompanied by a violation of the thyroid gland, hypofunction of the sex glands.

Over time, a steady violation 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 fail. Keratinization of the upper layers of the skin develops, which eventually worsens to a state of hyperkeratosis.

Other types of ichthyosis

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

There are about forty in total. 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 fashion. It manifests itself in early childhood, in the form of dryness and roughness of the skin, most often on the elbows and knees.

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

Brittle nails, hair can become thinner.

There are several types of ichthyosis vulgaris: 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, often accompanied by developmental disorders of the central nervous system, skeleton.

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

• a severe form, in which the symptoms are very obvious, noticeable during an external examination of the patient's body. Also called the hystrixoid form. May be characterized by the birth of a premature baby, while such children die during the first days of life;
• moderate form - children usually 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 promptness, begins to manifest itself from the first months of life. This may be evidenced by rough and dry skin, covered with tight-fitting gray-black or whitish scales.

The inguinal zone, the area of ​​\u200b\u200bthe armpits, popliteal fossae, and elbows are not affected by ichthyosis.

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

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

With the diagnosis of "ichthyosis", treatment should be comprehensive and aimed at eliminating the causes and consequences.

Symptoms

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

1. excess production of keratin, which is accompanied by a change in the structure of the skin;
2. an increase in the speed of movement of keratinocytes into the upper layer of the epidermis;
3. slowing down the rejection of dead cells by strengthening the bonds between them during the accumulation of decay products in cell tissues;
4. the acquisition by epithelial cells of a dystrophic nature, the appearance of vesicles (vacuoles) in the upper layer of the skin, a change in the thickness of the epidermis.

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• With the development of ichthyosis vulgaris, hair loss occurs, and peeling is flour-like, pityriasis or small-lamellar in nature. Fragility and thinning of the nail plates are also often observed, and skin lesions occur throughout the body, with the exception of only the lateral surfaces, the gluteal and cervical regions.
• The color of the scales can vary: from gray to whitish and black. The anterior surface of the lower leg is covered with scales in the form of fish scales and has a shiny surface.

The symptoms of ichthyosis tend to be more pronounced in winter, when the air is colder and drier.

Symptoms of ichthyosis include:

• flaking of the scalp
• pruritus
• scaly formations on the skin
• very dry skin
• thickened skin
• rare: thinning of nails, bones, hair and teeth, conjunctivitis, allergy

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

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

See what ichthyosis looks like in the photo, you see, all manifestations are very symptomatic.

Initial signs of ichthyosis may be dryness and roughness of the skin.

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

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

Patients suffer from organ dysfunction. Violations of the skeletal system and mental development may develop, the cornea of ​​the eyes becomes cloudy, cases of epilepsy are not uncommon.

Congenital ichthyosis in children is manifested in a number of disorders and malformations. Such children are born prematurely, with low birth weight. The skin of the child is completely changed and resembles a shell, which gives cracks, and blood oozes from them.

At a time when the development of the skin in a child is impaired, the rest of the organs, tissues and mucous membranes continue to develop normally. The skin is not elastic, it holds and turns the attached tissues outward. The face and whole body of the child are severely deformed and take on an unnatural appearance.

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

The newborn cannot breathe and eat, the internal organs have malformations, an infection joins. Such children are also called "Harlequins", and the disease is a "symptom of Harlequin".

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

Pathological areas on the face can disfigure the appearance, twisting the eyelids or the mouth and nose area. But these 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 are formed, which over time change from the color of healthy skin to grayish and dark gray;
2. the whole body of a child with this disease is covered with a thin film that has a yellowish-brown tint, which can transform and take the form of tiny scales;
3. skin becomes unhealthy appearance, the affected areas with a mild form of the disease are localized. The exception to the lesion is the deep folds of the skin, the lateral surfaces of the body. However, with the course of the disease, it manifests itself even in those areas that usually do not undergo changes;
4. scales, when the disease is activated, can take the form of shields, which give the skin a snake-like appearance;
5. damage to the nail plates with lamellar ichthyosis is not often manifested, but sometimes red or white stripes may appear on the nails, the edge of the nail becomes thinner and begins to crumble.

Removing these symptoms requires timely diagnosis, which allows you to draw up the correct treatment regimen and relieve unpleasant manifestations.

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 feet, the skin pattern becomes more pronounced.

The nails in the affected areas are thin and weak, easily broken. Hair almost does not grow, 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 disturbed.

The process manifests itself in the following changes:

1. Zones are formed with small scaly plates, which turn gray over time. Changes most often occur on the face and neck, chest, between the shoulder blades.
2. The body of the child is covered with a film of a brownish-yellow hue, which may become scaly.
3. In the moderate form, the affected areas are more localized and rarely affect the folds of the body.
4. At active development scale disease 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. Eyelids and lips in children turn out.
7. When spreading to the folds of the skin, cracks form in these places, which constantly remain moist, increasing the risk of infection.

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

Diagnostics

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

The most characteristic manifestation of ichthyosis vulgaris is the defeat of the mouths of the hair follicles with masses of horny epithelium, with tubercles of flesh or reddish-gray color, covered with skin scales and occasionally surrounded by a reddish corolla.

However, an accurate diagnosis is hampered by the large blurring of the external examination. Therefore, for a more accurate diagnosis, conduct a series additional research which, however, are very costly.

Their low availability also makes it difficult to diagnose the disease and clarify its variety. 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, age when you first experienced symptoms of ichthyosis, and whether you suffer from any other skin conditions.

Your doctor will begin to note where the patches of dry skin appear. This will help your doctor track how well your ichthyosis symptoms are being treated.

The dermatologist may also perform other tests, such as a blood test or a skin biopsy, to rule out other skin conditions, such as psoriasis, which cause similar symptoms. A skin biopsy involves removing a small area of ​​the 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 the diagnosis. In doing so, the greatest attention is paid to:

In most cases, the diagnosis of ichthyosis is not difficult. To conduct it, it is enough for a dermatologist to examine the patient and perform histological examination skin sample.

If congenital forms of ichthyosis or Harlequin ichthyosis are suspected, a pregnant woman is shown an analysis of the amniotic fluid and a fetal skin sample (it is performed at 19-21 weeks of pregnancy). When confirming the diagnosis of "fetus-Harlequin", termination of pregnancy is indicated.

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

Histological examination will help to put an end to the diagnosis.

With the help of ultrasound, congenital ichthyosis can be diagnosed, starting from the 16-20th week of pregnancy. In this case, doctors recommend an abortion.

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

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 ​​\u200b\u200bthe existing disease. However, a more precise diagnosis can only be made through additional laboratory tests.

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

Making a diagnosis such as ichthyosis requires a mandatory visit to a dermatologist. The doctor can already 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 tissues;
• biopsy of the fetal dermis between 19 and 21 weeks of gestation.

Treatment

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

Therapy of the disease consists in 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.

Therapeutic way

Parallel to medicinal methods treatment should follow the following guidelines:

Researchers in medicine have not yet found a cure for ichthyosis, today the treatment of ichthyosis comes down to controlling your symptoms and alleviating the condition of the disease.

There are no specific drugs and methods of therapy for ichthyosis. The main principles of treatment are the use of vitamin “A” derivatives.

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

Intervals between courses of treatment - 3-4 months.

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

Careful and proper care of the skin with the use of external moisturizers and vitamin products is necessary. Recommended moisturizers for ichthyosis must necessarily contain derivatives of vitamin “A”.

Home treatment consists of daily baths. The water temperature should be around 38°C.

How to wash with ichthyosis? Do not use soap or take cold 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. medicinal plants, white (resin-free) naftalan, emolium-triactive bathing emulsion.

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

After taking a bath, for a better separation of the scales, it is necessary to rub the 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 with acquired forms of this dermatological disease, the patient is shown therapy for the underlying ailment that caused this pathology.

Currently, research is underway aimed at creating drugs that would be able to influence the altered genes and help restore them.

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 may be prescribed the following drugs:

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

However, remember to follow the advice of people who have a dubious attitude to medicine, should be done with caution. If a grandmother in the market will importunately slip you a drug "from the sore Schleiman'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 some really good recommendations. Basically, these are teas and herbal decoction baths.

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

Perhaps you will pick up some effective and simple recipes for yourself.

Geneticists and laboratories in many countries are working on finding a cure for people suffering from genetic diseases. It remains to be hoped that a panacea will be found soon, and we will be able to save humanity forever from such an unpleasant and even terrible disease.

Trichophytosis - causes and signs, symptoms and treatment

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

Taking a warm bath every day with rubbing the skin with greasy creams, petroleum jelly;

Taking retinol (vitamin A) by mouth and rubbing into the skin;

cyanocobalamin injections;

Use of creams with 10-15% urea content;

In severe cases of ichthyosis, hormonal ointments are used.

The disease is chronic, lasts a lifetime and even progresses. Symptoms weaken or even disappear in a warm and humid climate, so humidifiers greatly alleviate the patient's condition.

Ichthyosis harlequin 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 approach to treatment; in severe and advanced forms of the disease, treatment is recommended in a hospital. Usually, 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 is from 3 to 5 weeks. this is followed by a week break, after which the 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.

In a medical way

For external use with severe lamellar ichthyosis, agents that eliminate increased dryness of the skin and peeling can be used. It can be vaseline, Dematotop cream for external use.

They are applied to cleansed areas of the affected skin and left until absorbed. An increase in skin elasticity, a decrease in the production of active substances in the epidermis and saturation of the skin with lipids are the main manifestations of the effects of these agents.

Corrective hormonal background measures can improve the condition of the affected skin. Since a change in the functioning of the thyroid gland is often observed in this disease, hormone therapy may be prescribed by an endocrinologist to normalize the functioning of the thyroid gland. These drugs include:

• Tireocomb;
• Tireot;
• Thyroidin.

With insufficient activity of the pancreas, the use of 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 therapy can reduce the severity of 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, a group of vitamins B (as part of vitamin complexes). Long courses for 2-3 months, repeat after a break (repeat the course 2-3 times a year). Assign Etritinat, Tigazon, Atricetin ( active substance preparations - 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 in the humoral system. Corrective drugs are prescribed by the doctor, taking into account the age of the child and general condition health. The treatment regimen and dosage must be strictly observed.
3. Keratolytics. An aqueous solution of Propylene Glycol is applied - applied to the skin and covered with plastic wrap overnight. After the course of treatment, the duration of which is determined by the doctor, supportive procedures are carried out as needed (1 time in 7 days, a month).
4. Skin care: moisturizers with vitamin A. For older children and adolescents, preparations based on urea and salicylic acid may be used to soften keratinized particles. The following agents are used: Losterin, Topikrem, 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 (a course of up to 30 sessions in a row with a break for a month).

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

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

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

Complications

In the absence of treatment or improper selection of the method of therapy, worsening of the manifestations of the disease is likely, which significantly worsens overall quality the patient's life.

Perhaps the appearance of edema of the skin, the weakening of its functions, and in infancy with the active development of complications, a fatal outcome is likely.

Complications of lamellar ichthyosis include the transition of the initial form to a more neglected one, when the symptoms are already expressed as strongly as possible and cause discomfort to the patient. The increase in infant mortality in the presence of 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

Ichthyosis is a hereditary skin disease in which there is a layering and accumulation of dead skin cells on the surface of the body. Ichthyosis is popularly called "fish disease".

The disease may be present at birth (congenital ichthyosis), but usually first appears in early childhood and affects the rest of a person's life. Acquired ichthyosis can result from health problems such as hormonal, inflammatory, or malignant conditions.

Sometimes, in mild cases, ichthyosis disease goes unnoticed because it is mistaken for dry skin. Sometimes keratinization leads to severe, even incompatible with life, disorders of the epidermis.

In most cases, the course of the disease is mild and only certain areas of the skin are affected, but sometimes large areas are affected, including the abdomen, back, arms and legs. The etiology of the disease has not yet been clarified, but in the diagnosis, importance is attached to a lack of vitamin A, a decrease in the functions of the thyroid and gonads.

There are various clinical forms due to certain altered genes. There are twenty-eight forms of the disease and syndromes that include ichthyosis as a symptom. Manifestations of ichthyosis of any kind in winter are significantly aggravated due to cold and dry air. In the warm season with wet weather, as a rule, the condition improves.

Those who live in a tropical climate do not show ichthyosis, but moving to more northern areas will definitely provoke an exacerbation. The disease is more common among residents of the American, Asian and Mongolian groups. There are currently no methods to prevent ichthyosis.

Epidermolytic ichthyosis is congenital and very difficult to treat.

One of the varieties of the congenital form of the disease is epidermolytic ichthyosis. The skin of newly born babies has a red tint, as after a burn. When you touch the affected area, the keratinized scales are rejected.

In a very severe course of the disease, bleeding into the mucous membranes or into the skin is possible. There is a fairly high probability that with such manifestations the child will die.

If the course is mild, then after a certain period of time the area of ​​​​the lesion decreases, although relapses occur regularly throughout life. During periods of exacerbations, epidermolytic congenital ichthyosis is characterized by an increase in body temperature.

When a child reaches 4 years of age, in areas of the skin that form natural folds, a mass of grayish scales is observed.

Patients may suffer from malfunctions of the nervous system, endocrine disorders. Many children with ichthyosis develop anemia or polyneuritis, some suffer from spastic paralysis due to phytanic acid accumulated in the tissues. Quite often, deaths in children from complications of ichthyosis are recorded.

Recessive ichthyosis photo

Another type of ichthyosis - recessive - is observed exclusively in boys. Its cause is considered to be a violation of placental enzymes. Symptoms usually appear on the tenth to fourteenth day after birth. The surface of the skin is covered with black-brown formations like keratinized scutes, between which cracking of the skin occurs.

Mental retardation, epileptic seizures and abnormal skeletal structure are very likely in sick children. Every fifth person develops juvenile cataract.

Ichthyosis Harlequin in children

Harlequin ichthyosis is also a type of this disease and begins its course as early as the fourth week of intrauterine development. After a baby is born, its skin consists of gray-brown scales up to one centimeter thick. Due to the sticking together of hard scales, the mouth of a child, as a rule, is deformed - stretched or, conversely, compressed. In the latter case, feeding a baby with Harlequin ichthyosis is a big problem.

Due to deformation of the skin, the eyelids are everted, the auricles are filled with keratinized scales. There are pathologies in the structure of the skeleton in the form of clubfoot or clubfoot, possibly the complete absence of nail plates. Quite often, babies with Harlequin ichthyosis are born prematurely. Many of them are born dead or die in the first few days.

Ichthyosis photo

Diagnostic measures are reduced to examining the child's condition by a doctor. If it is necessary to confirm the diagnosis, histological examinations (biopsy) are prescribed. If a congenital form of the disease is noted, then there is a need to differentiate it from other skin diseases, for example, erythederma.

Collecting information about the history of hereditary diseases is also very important. In some cases, genetic testing may be helpful in making a diagnosis of congenital ichthyosis.

The main cause of ichthyosis is a gene mutation

A gene mutation that is passed down through the generation is the main cause of ichthyosis. The biochemical process of the disease has not yet been fully determined by specialists. Deviations can manifest themselves in high cholesterol, impaired fat metabolism, with an excess of amino acids.

During a mutation that provokes ichthyosis, there is a significant decrease in the activity of metabolic processes in the body, a violation of thermoregulation, and an increase in the participation of enzymes in the phenomenon of oxidation of substances in the skin. The inhibition of the functioning of the thyroid gland and adrenal glands is also fixed.

There are no confirmed data on the association of the disease with diabetes, but in some cases, acquired ichthyosis developed against the background of diabetic pathology. A lot of research is currently underway to find out the causes of ichthyosis.

in the treatment of ichthyosis, special ointments and vitamins are used

Treatment of ichthyosis is carried out by a dermatologist, taking into account the severity of the course of the disease. Of the local remedies, the use of preparations containing glycerin, lactic and glycolic acid is effective. It is these acids that significantly reduce skin flaking.

Salicylic ointments and creams with urea soften the skin well. Long-term vitamin courses are mandatory. In the treatment of ichthyosis, vitamins A, B, C, E are required in fairly high dosages. A good result is given by ultraviolet exposure to the skin, taking carbonic or sulfide baths, as well as heliotherapy. Baths with antiseptic agents have a beneficial effect on the skin.

In severe cases of the disease, hormones are used in the treatment. Hormone therapy can be gradually reduced and canceled if stable positive results can be achieved.

If there is a need to stimulate activity immune system may require blood transfusion, the use of drugs with aloe extract, iron and calcium.

Since ichthyosis skin easily loses fluid and is prone to increased dryness, it is recommended to apply a moisturizer after bathing. Therapeutic measures for lactating women coincide with the treatment of sick children.

For the prevention of ichthyosis, a thorough examination is necessary when planning pregnancy.

Unfortunately, in the vast majority of cases, the pathology progresses, proceeds with complications on various bodies and the prognosis for the disease is rather unfavorable.

A preventive measure is a thorough examination when planning a pregnancy in order to identify the risk of genetic disorders. If an anomaly is found in the fetus, then the pregnancy is recommended to be terminated.

Ichthyosis of the skin 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 that occur in the body.

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

Ichthyosis of the skin in children photo with a description of 6 pieces

Ichthyosis of the skin in children. Causes

Scholars are divided on this point. Most of them believe that the main cause of pathology is a gene mutation. Other researchers think that the reason lies in the malfunction of the thyroid gland, hormonal disorders.

Babies most often suffer due to heredity. The current mutation does not allow the normal stratum corneum to line up, which is covered with scales, cracks, formations. Fat and protein metabolism is disturbed, cholesterol rises, the amount of amino acids increases.

The disease can be inherited in an autosomal dominant manner. The initially dry, whitish dermis is covered with whitish, grey-black scales. With other types of illness, the baby's body acquires a bright red color.

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 upper, 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 lead to death. With this diagnosis, 2-3% of babies survive, but only thanks to careful care. After birth, they are immediately sent to the intensive care unit. Those who are born prematurely are placed in special feeding chambers.

Even during pregnancy, the expectant mother can find out about the disease of the fetus, with the help of a biopsy. The doctor takes a scraping, makes a diagnosis. The decision is always up to the parents.

Ichthyosis in children. Symptoms

Adults do not always inherit the mutating gene, they can get sick with a decrease in immunity, from old age. Ichthyosis in children is always hereditary, it develops against the background of a slow metabolism. The main symptoms include the following:

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

With congenital ichthyosis of the skin in newborns, constant care is required. The plates can tightly tighten the organs of babies, because of this, their deformation occurs. If the skin plates have strongly pulled the baby's mouth, feeding is possible only through a tube.

A child with ichthyosis mild form, does not require such intensive care. It is enough to conduct vitamin courses, pick up proper nutrition. Creams, water procedures are carried out daily.

Ichthyosis Raikin in children

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

For eye care, the optometrist prescribes special drops. These children are bald because the hair follicles overlap with formations in the form of scales. 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's ichthyosis in newborns has its own signs. At birth, the entire body of the baby is covered with formations in the form of rhombuses, polygons. It is because of this feature that the disease began to be called Harlequin. After a short time, thick plates begin to peel off.

The dermis of the baby becomes bright pink, 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 petroleum jelly.

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, the internal organs begin to malfunction. A rare percentage of patients survive and reach the age of 12 years. Even less grows up to 18-20 years. They are constantly fighting for life.

How to treat ichthyosis in children?

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

Babies who have just been born are immediately sent under the supervision of a specialist. Ichthyosis in newborns requires special attention and efforts on the part of the attending staff, relatives. They must be constantly observed, not left.

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

Both parents do not always get sick. Interestingly, ichthyosis does not develop in women who are carriers of the mutated X chromosome. But men are necessarily born with pathology. Unfortunately, the disease is completely incurable. Scientists have not fully understood how the biochemical processes in the mutating gene work.

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

1. Dermatologist (basic treatment).
2. pediatrician, therapist, family doctor(increased immunity, restorative courses).
3. Otorhinolaryngologist (hearing treatment).
4. Oculist (eye treatment).
5. Cardiologist (observes the condition of the heart).
6. Psychologist (relieves stress, depression, increases self-esteem).

There are many ways to fight the disease.

Drug treatment.

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

Vitamin and mineral complexes.

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

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

Hydrotherapy

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

Heliotherapy

Sunlight treatment is also used in the fight against the disease. Infrared rays are collected in a beam with a special preparation. Then he is sent to the affected areas, held for the right time.

Thalassotherapy

Sea treatment improves the well-being of patients, increases immunity. Sufferers are prescribed sea baths, sand baths, therapeutic mud, walks. Algae, seafood are also used in the healing process.

diet therapy

Products useful to patients are selected by a nutritionist. He draws up a menu of patients. The diet should include:

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

Climatotherapy

Dead Sea gifts are ways to help the sick. Healing sludge, algae, minerals, walks increase immunity. Sand, mud baths improve well-being.

Spa treatment

Sanatoriums, resorts are able to improve the condition of patients for a long time. Irradiation with a UV lamp, hydrogen sulfide and carbon dioxide baths contribute to healing. Here you can undergo phototherapy (irradiation with special rays).

Treatment of ichthyosis in children with folk methods

Herbal treatment can relieve pain, relieve symptoms only for a while. But even with such an impact, the dermis receives more moisture, nutrients, and is saturated with the necessary elements. With this method, herbal infusions are prepared, an ointment is boiled from pig fat and grass.

As raw materials can be used: horsetail, tansy, mountain ash, oats. The herb is also added to baths. After water procedures, the body is lubricated with petroleum jelly. The water should not be too hot. Sea buckthorn is added to herbs, vegetable oil, make lotions.

Prevention of ichthyosis in children

Genetic counseling can help future parents. The test will show whether one of them is a carrier of the mutating gene, what offspring they will have. If a woman is in position, doctors can diagnose the baby's disease while he is still in the womb, starting from the 16th week of pregnancy.

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

Dermatological diseases represent a whole group of pathological processes in which the upper or lower layers of the epidermis are damaged. Among skin diseases, there are those that develop at the genetic level, as a result of gene mutation.

Such diseases include skin ichthyosis, which, according to the results of American scientists, is considered the most common disease causing keratinization of the skin. The term "ichthyosis of the skin" combines a large number of diseases in which changes occur in the stratum corneum of the skin. Currently, about 50 types of ichthyosis-like diseases are known, most of which develop against the background of genetic disorders.

Ichthyosis - what kind of disease?

Ichthyosis is a genetic disease similar to dermatosis, in which there are diffuse changes skin, resembling fish scales, followed by flaking of scales (keratinized skin). In dermatology, ichthyosis of the skin can be found under the term "diffuse keratoma", "ichthyosiform dermatoses" or "sauriasis", which can affect women and men after 20 years of age or appear in children after birth or during the first five years of life.

The main mechanism for the development of skin ichthyosis is considered to be a gene mutation, which occurs due to a violation of protein metabolism and fatty acid metabolism, when an excessive amount of amino acids and cholesterol accumulate in the blood. With a mutation that leads to the development of ichthyosis, in the human body, in addition to metabolic disturbances, thermoregulation is significantly reduced, and enzymes that take part in the oxidation of substances increase.

Ichthyosis skin - chronic illness which cannot be completely eliminated. Relapse of the disease occurs more often in winter. In the summer, the patient's skin condition improves significantly.

The main causes of ichthyosis of the skin

The epidemiology of skin ichthyosis is based on a gene mutation that is not fully understood by science and medicine. Doctors and scientists are not able to say with accuracy what causes the development of ichthyosis, but they are sure that the disease can develop against the background of the following factors:

• heredity;
• violation of metabolic processes;
• thyroid pathology;
• violations of the functionality of the sex glands, adrenal glands;
• a shift in the work or formation of cellular immunity.

In cases where skin ichthyosis is acquired, other pathological disorders in the body can become its cause: cancer, chronic renal failure, thyroid disease. Not infrequently, skin ichthyosis occurs along with concomitant chronic dermatological diseases: eczema or other forms of dermatitis.

Clinical signs of ichthyosis and its types

The first signs of skin ichthyosis can be recognized in a child up to the first 4 months of life or up to 3 years. In adults, the disease can manifest itself after 20 years. There are about 50 types of skin ichthyosis. Some forms of the disease are quite severe and incompatible with life. Ichthyosis can affect both the whole body and its individual parts. Most often, scales are localized on the extensor surfaces of the limbs, shins, and the face, abdomen, and back are also often affected. If a child has a history of Harlequin ichthyosis or Raikin ichthyosis, then the body of the newborn may be completely covered with scales.

In dermatology, 5 types of skin ichthyosis are most common, which are characterized by a violation of the structure of the skin, the appearance of white or gray scales that adhere tightly to the body.

ichthyosis vulgaris- the most common form of a disease of hereditary origin, which can be called - simple or ordinary ichthyosis. Ichthyosis vulgaris manifests itself in children under 3 years of age and is characterized by excessive dryness of the skin with the appearance of scales. The child has increased sweating, dystrophy of the nail plates, hair. This form of the disease is often associated with atopic dermatitis, eczema, bronchial asthma. As the child grows older, the disease can worsen, manifested by periods of remission and exacerbation.

recessive ichthyosis- is diagnosed in newborns from the first days of life, but mainly affects boys. Scales with such ichthyosis are large, have a black-brown tint. Such children are often born with other anomalies or disorders: they lag behind in growth and development, have defects in the formation of the skeleton, and are prone to convulsions.

Congenital ichthyosis or Harlequin ichthyosis- develops during pregnancy, more often in the first or second trimester. This form of the disease is considered the most dangerous for the life of the fetus or newborn child. Immediately after birth, large keratinized layers of thick skin of various shapes of gray-brown color are present on the child's body. There are cracks between the scales, the child's face, as a rule, is always deformed: the mouth is widely stretched or so narrowed that a feeding probe can hardly pass into it, the baby's eyelids are turned inside out, and the ears are completely filled with scales. The skeleton of such children is also with anomalies: there are no nail plates, clubfoot is noted, there are no jumpers between the phalanges of the fingers.

Harlequin ichthyosis - a photo will allow you to get acquainted with the symptoms of the disease in more detail. If the fetus has Harlequin ichthyosis, there is a greater chance of miscarriage or premature birth. In cases where a child is born with this disease, there is practically no chance of survival. The cause of death is a pathological process throughout the body, the inability of the body to regulate water balance, lack of thermoregulation, weakness and defenselessness of the newborn against pathogenic infections.

If a child diagnosed with harlequin ichthyosis does not die immediately after birth, then up to 12 years the survival rate becomes only 3%. Up to 18 - 20 years, only 1% of patients survive. Many doctors believe that Harlequin ichthyosis is not compatible with life.

During fetal development, diagnosing this anomaly is difficult and almost impossible. Ultrasound diagnostics do not allow the doctor to see the pathology of the fetus.

Epidermolytic ichthyosis- a congenital form of the disease, which is characterized by the appearance of bright red scales on the skin. The separation of keratinized skin plates often leads to hemorrhages, which can be life-threatening for the child. The life expectancy of such patients is up to 40 years.

Acquired ichthyosis- a rare form of the disease that occurs in people after 20 years. The disease develops as a result of concomitant diseases, as complications: diseases of the gastrointestinal tract, endocrine disorders, oncological diseases and others. The clinic of acquired ichthyosis in adults, expressed and accompanied by the appearance of scales throughout the body or its individual parts.

Symptoms of ichthyosis of the skin, expressed, so it is not difficult to diagnose the disease. It is important to differentiate it from other dermatological diseases: psoriasis, seborrhea. The treatment of ichthyosis is carried out by a dermatovenereologist, who, after examination, will prescribe a number of additional studies:

• general blood analysis;
• biochemical blood tests;
• general urine analysis;
• histological examination (skin scraping).

In cases where one of the parents is ill with ichthyosis, the only way to detect the disease is considered to be a biopsy of the fetal skin, which is performed at the 19th - 21st week of pregnancy. Only in this way can the “Harlequin fetus” be identified and all kinds of methods for terminating the pregnancy can be taken. Fetal ultrasound or other examinations do not allow the doctor to detect an anomaly.

Skin ichthyosis treatment

It is completely impossible to cure ichthyosis of the skin, but it is possible to reduce the course of the disease and reduce the frequency of relapses. Patients with ichthyosis of the skin of any classification require complex treatment, proper and regular skin care. Therapeutic treatment of skin ichthyosis consists of taking the following drugs:

• Vitamin therapy - vitamins A, E, PP, C, group B, take courses of 2 - 3 months.
• Corticosteroid hormones - prescribed if necessary.
• Lipotropic drugs - reduce keratinized skin scales.
• Immunotherapy.
• Transfusion of blood plasma.
• Calcium, iron, gamma globulin preparations.

In severe forms of skin ichthyosis or with a congenital form of the disease, the doctor prescribes hormone therapy. If such treatment positive result, then their reception should be canceled slowly. All drugs are prescribed to patients in accordance with the patient's age, body weight, form of the disease and other features.

Treatment should be carried out under the supervision of a physician, since many of the drugs can have a toxic effect on the body, especially in cases where ichthyosis is treated in children.

With ichthyosis, you need to monitor the condition of the skin itself. For processing, you can use ointments, nourishing creams on a natural basis, it is also recommended to take baths in a solution of potassium permanganate or add various salts, herbs, calcium chloride. You can add various substances to the bath only after prior consultation with your doctor.

Not a bad effect can be obtained from physiotherapeutic procedures: carbonic baths, ultraviolet irradiation, heliotherapy, and mud therapy. Such procedures stimulate metabolic processes in tissues, improve skin condition.

Skin with ichthyosis needs constant hydration, so you need to use a cream that contains vitamin A. Skin ichthyosis is a disease that cannot be cured, but regular skin care is correct and timely treatment reduces the number of exacerbations, thereby prolonging remission.

How to live with ichthyosis?

Skin ichthyosis is a disease that you need to learn to live with. Patients with this anomaly experience not only physical discomfort, but also psychological. They are different from ordinary people, so they too often refuse to go out and communicate with other people. It is most difficult for children who attend preschool or school institutions. Such children have poor skin sensitivity, they understand that they are different from others, often withdraw into themselves. Other children shun a child with ichthyosis, often serving him with ridicule.

Living with ichthyosis is quite difficult, so such patients often need the help of a psychologist, they also need love, attention and support from relatives. The help of a professional will help restore trust in the world and learn to live with your illness.

Prevention of skin ichthyosis

The only way to protect yourself from the appearance of ichthyosis is medical genetic counseling and perinatal diagnostics of pregnant women, which should be carried out in cases of risk of developing the disease in a newborn.

If this anomaly is observed in one of the parents, then in 97% of cases the child will inherit the disease. If ichthyosis does not appear immediately after birth, then it can develop slowly and appear before 12 years of age. The prognosis of skin ichthyosis is always unfavorable. Even when the disease has a mild course, it progresses with age and almost always leads to various complications in which the functioning of internal organs and systems is disrupted. If ichthyosis of the fetus is detected during pregnancy, women are strongly advised to terminate the pregnancy. Families that are at risk of having a child with this anomaly are better off refraining from conceiving and having a child.