Ichthyosis of the skin in children: is this disease dangerous for newborns, what to do and how to treat? Ichthyosis of the skin in children: causes, treatment with drugs, possible complications Congenital ichthyosis in children.

The disease ichthyosis is quite rare. This pathology is associated with a violation of the skin, as a result of which the stratum corneum of the epidermis is modified. On the surface of the skin, crusts begin to appear, which are fish scales. Because of this, the disease got its name - ichthyosis.

Ichthyosis is a rare but dangerous disease.

Description of the disease

Ichthyosis is also called sauriasis. This pathology belongs to the group of genetic disorders, which is hereditary in an autosomal dominant manner. characteristic feature disease is the rapid and sudden appearance of the stratum corneum of the epidermis. Such an ailment can appear on any part of the body, so it is very difficult to make a diagnosis in the initial stages.

Damaged parts of the body lose the function of the sebaceous and sweat glands. Therefore, the skin begins to dry quickly, coarsens and cracks. This condition is very dangerous, because the skin becomes less protected from the penetration of various bacteria. In addition, a person's metabolism is disturbed.

This disease has more than 30 types. It can occur immediately after birth or manifest itself in the next three years. Horny areas are checked for the presence of a keratin molecule with a modified structure. It is these cells that provoke the formation of various crusts.

Types of ichthyosis

Ichthyosis of the skin in children is divided into many varieties. Consider the most popular classification this disease.

Pathology in the form of leakage differs in:

• Congenital. The disease begins to form already in the womb, as a result, the child is born ahead of schedule. The newborn is completely covered with scales, which have different sizes and structures. Usually these babies do not have nails, and their mouths are very narrow, so it is very difficult to feed them. The auricles are filled with husks, the eyelids are very much stretched and therefore turned outward. congenital pathology affects the deformation of the skeleton, so babies have clubfoot and curvature of the hands. Given the form of the disease, babies die in the first weeks of life.
• Usual. This form is called xeroderma. The disease begins to appear on visible areas of the skin. This disease does not bother the child and passes in mild form. The entire skin is very dry, the palms and soles have a strong seal. This form is often chronic.
• Dystrophic. With this form, not only the skin suffers, but the hair begins to crumble, the nails exfoliate and worsen. tooth enamel leading to decay and damage to the teeth. And also in babies early age vision may be impaired, namely, myopia appears. Conjunctivitis and retinitis often occur in the eyes. Pathology greatly reduces immunity, so any other diseases will always occur in chronic form. As a result, such children often suffer from poor performance. internal organs and heart failure.
• Epidermolytic. The disease begins to appear immediately after the birth of the child. The skin becomes red, similar to that after burns. This form proceeds easier than intrauterine. In this case, death is possible only in the presence of hemorrhage. If there is no such disease, then the disease proceeds favorably. In the future, ichthyosis appears much less frequently with small exacerbations.
• Recessive. This form appears only in the male sex. It becomes noticeable a few weeks after birth. The scales are very dense, have a dark color. The older the boy becomes, the more noticeable the disease manifests itself. And also it provokes mental retardation, skeletal deformity and epilepsy.

Recessive ichthyosis occurs only in boys

Another pathology is divided depending on the cause of occurrence:

• genetic inheritance.
• The acquired form occurs due to a strong decrease in immunity. This is possible with diseases of the gastrointestinal tract or AIDS.

Also, the classification occurs according to the severity of the consequences:

• Heavy. The disease occurs at the birth of premature babies. As a result, they are unable to bear the disease, and pathology leads to death.
• Average. Children become mentally retarded, and other types of diseases go into a chronic stage.
• Relatively light. A person can live with this pathology all his life, since the symptoms only appear periodically.

Symptoms

All types of ichthyosis have almost the same symptoms. The difference is manifested only in the intensity of their manifestation.

• The skin becomes dry and cracks appear.
• The skin is covered with scales of various colors and sizes. The severe form is characterized by the appearance of scales in the ears, mouth, nose and instead of nails.
• Some forms of the disease are distinguished by very dense scales, which are plaque that looks like a cocoon or shell.
• The lines on the palms and soles begin to stand out strongly. The skin in these places has a white color.
• Children are completely incapable of sweating, or this function is very reduced in them.
• Nails begin to peel off, their fragility increases or may be completely absent.
• Body temperature increases, up to critical indicators.
• The hair splits and falls out a lot. The structure of tooth enamel is broken.
• Children may begin to lose weight.

All these symptoms are more common in children under 10 years of age. The later age category has less pronounced symptoms. Pathology likes to worsen in winter, when the air is dry and cold. On summer days with high humidity, general state the patient improves markedly. Therefore, many change their place of residence, because in a warm, humid climate, this disease can be almost forgotten.

Cold and dry winter air provokes exacerbation of ichthyosis

Diagnostics

Diagnosis of this pathology is possible after a visual examination. If large horny formations similar to fish scales are clearly visible on the human skin, all lines are well defined on the palms and the skin is flaky, then this is 100% ichthyosis.

To determine the specific form of the disease, a pediatric dermatologist prescribes general analysis urine and blood, as well as a histological examination of scrapings from the inflamed areas of the patient.

Fundamentals of treatment

Treatment of ichthyosis should only be prescribed by a dermatologist. Usually, patients with very severe forms of the disease are subject to hospitalization. Genetic pathology cannot be completely cured. With the acquired form, the patient is prescribed therapy aimed at curing the underlying ailment, due to which this disease appeared.

Today, a drug is being developed that can replace diseased genes and restore all functions in the body. As a result, such a medication will allow to cure patients with hereditary pathology.

To cure ichthyosis in children, a treatment plan is prescribed. It is compiled individually for each patient and depends on the severity of the disease. But in addition to complex treatment, the patient needs to provide psychological help. After all, this disease is accompanied by a violation of psychological balance. The specialist will help eliminate stress, relieve internal experiences that are associated with alienation from society. As a result, the psychologist not only has a positive effect on the psyche of the patient, but also on his general condition.

A cure for ichthyosis is being developed that can replace damaged genes

Drugs and topical treatments

In the treatment of hereditary ichthyosis, certain drugs are prescribed:

• vitamins A, C, E and group B;
• a nicotinic acid;
• the use of hormonal medications;
• addition of minerals: potassium, phytin, iron;
• medicines with aloe;
• immunomodulatory drugs;
• transfusion of plasma and the introduction of gamma globulin;
• with additional infection, antibiotics are prescribed;
• if the eyelids are turned out, then it is prescribed oil solution retinol.

To relieve the main symptoms are usually prescribed:

• Gels, creams and shampoos Losterin. These are special products designed to care for damaged skin.
• Lipotropic substances containing lipamide and vitamin U.
• Bath with the addition of potassium permanganate, decoction of chamomile, yarrow or sage.
• Baby cream containing vitamin A.
• Therapeutic bath with salt, starch and carbonic acid.
• Use of creams with urea and vanillin. For adults, creams with sodium chloride are also prescribed.
• Mud treatment.
• Treatment with ultraviolet radiation. This procedure allows you to suppress the reproduction of microorganisms.
• Use of seaweed, water or other marine products.
• Lactic acid allows you to get rid of keratinized skin.

And also to treat ichthyosis can be folk methods. The most common include the following:

• Tincture from medicinal herbs, which includes: nettle, oat grains, tansy, rowan fruits, horsetail, motherwort and plantain.
• The second tincture of medicinal herbs, including: motherwort, tansy, plantain, horsetail and couch grass roots.
• An ointment based on St. John's wort, wax, propolis, resin, celandine and butter.
• The use of baths using any medicinal tinctures from herbs. And you can also add just soda or borax and glycerin or salt and borax.

Plantain is part of the decoction of ichthyosis

Complications

Hereditary ichthyosis has serious consequences. All of them depend on the form, stage and timeliness of the course of therapeutic therapy.

• In the severe stage, the disease most often leads to death.
• Due to the wounds and cracks that form on the surface of the skin, the likelihood of bacterial infections increases. As a result, it leads to purulent inflammatory processes that are distributed throughout the body.
• The patient eventually begins to suffer from mental and physical underdevelopment, epilepsy, imbecility, hypogonadism, and photophobia appears.

Timely conduct of the treatment course allows you to avoid many unpleasant consequences from this pathology.

Prevention

To prevent the appearance of an infant with ichthyosis, it is required to early stages pregnancy constantly consult with a geneticist. Otherwise, it is impossible to avoid the appearance of this pathology. Only a geneticist can determine the degree of risk.

If in a couple one of the spouses has this pathology, then it is better to refuse to have their own children. In this case, it is desirable to use the services of IVF, which uses donor material.

And you can also resort to adoption. If during pregnancy the fetus was diagnosed with ichthyosis, then the woman is recommended artificial interruption.

Treatment may include not only special therapy, but also recommendations for relocating. There are no other preventive measures for this disease.

Harlequin ichthyosis (fruit of harlequin, lat. Ichthyosis fetalis) - rare genetic disease belonging to the group of genodermatosis, and inherited in an autosomal recessive manner. This is the most severe form of congenital ichthyosis, which is characterized by the presence of rhomboid and polygonal hyperkeratotic plates in newborns. They cover the entire body in a geometric pattern reminiscent of a harlequin costume (hence the name of the disease). In addition, there are other changes that carry a direct threat to life. Babies with harlequin ichthyosis have a low birth weight. Previously, they quickly died due to the addition of a systemic infection or as a result of violations of thermoregulation. modern medicine has achieved success in the fight against the symptoms of this disease, so there is a chance to save the life of the newborn.

It is difficult to calculate the exact frequency of occurrence, doctors believe that it is 1: 1,000,000 cases. In closed communities (for example, in tribes), harlequin-type ichthyosis is diagnosed more often, because there is a higher likelihood of marriage unions in which both partners are carriers of the mutant gene. Pathology equally affects female and male infants.

Causes of Harlequin Ichthyosis

So, we figured out the concept of harlequin ichthyosis, what kind of disease it is. Now let's look at the exact reasons.

The gene mutation shortens the polypeptide chain in the ABCA11 gene, which causes the loss of function of the protein that transports lipid granules to keratinocyte membranes. Microscopically, it was found that in this pathology, the granular membranes are incorrectly formed, so lipids (fats) cannot create the correct stratum corneum and undergo abnormal secretion. Even in prenatal age (approximately at the 16th week), the fetus develops harlequin ichthyosis. We cannot eliminate the causes of the mutation, but the expectant mother can find out in advance about such a problem and consider an abortion.

Symptoms and clinical picture of Harlequin ichthyosis

Symptoms have been present since birth. The baby has:

• thickened skin with large shiny diamond-shaped or polygonal scales; these scales have light color, and are separated by bright red cracks;
• severe ectropion (eversion) of the upper and lower eyelids;
• redness of the eyelids;
• flanged lips (lip eversion), mouth open: for this reason, the child cannot take mother's milk;
• face pseudodysmorphia ( secondary symptom in relation to skin lesions): flattening of the nose, small vestigial lobes, in some cases the ears and nose may be completely absent;
• joint contracture, difficulties with flexion and extension of the limbs caused by damage to the dermis;
• small head (microcephaly);
• in some cases - underdevelopment of the fingers and toes, hypoplasia of the nails, polydactyly (more than five fingers on the hand);
• structural anomalies of the central nervous system which may present with convulsions.

Diagnosis of ichthyosis Harlequin

Most often, diagnosis is made after birth, based on clinical picture. If parents have a genetic predisposition to this mutation (there were similar cases in the family), it is advisable during ultrasound to look for signs that may indicate fetal ichthyosis:

• flat face profile;
• flat nose;
• wide "fish" mouth, macroglossia (large tongue);
• flat ears or their absence;
• swelling of the thighs and legs;
• fetal growth retardation.

These symptoms are not specific and may indicate other health problems. Therefore, if the doctor is in doubt, he may order a skin biopsy.

The listed symptoms are not specific and may indicate other health problems. Therefore, if the doctor is in doubt, he may order a skin biopsy.

Treatment of ichthyosis Harlequin

The child requires an interdisciplinary approach, including consultations of many specialists - an oculist, a surgeon, a gastroenterologist, a nutritionist, and a psychologist. In order to ensure proper nutrition, he may have a gastrostomy.

Therapy includes:

• hydration of the child's body;
• giving opioid analgesics, eg morphine, fentanyl, sufentanil (to reduce pain response to tissue damage);
• the introduction of etretinate - a retinoid for other scaly-like diseases;
• the use of emollients for the skin and mucous membranes;
  prescribing antibiotics to prevent infection;
  psychological help.

Thick cracked plates will gradually peel off and fall off. In a few months, thin dry skin of a bright pink color (covered in places with small scales) will appear in their place. This means that the baby has gone through a critical stage in his life, and you can complete intensive care. However, in patients diagnosed with harlequin ichthyosis, treatment will last a lifetime. It consists of constant body care - the use of keratolytics to remove scales and emollient creams to reduce dryness.

Treatment with folk remedies

ethnoscience did not find effective means from this pathology. But to care for overdried skin, herbal baths (with oat straw, lovage root, string grass, chamomile flowers) and compresses are used. Nutritious and wound-healing ointments are made on the basis of pork fat and medicinal herbs. Remember that before using herbal medicine, it is better to consult a dermatologist.

Prognosis and complications of Harlequin ichthyosis

The prognosis is unfavorable: 50% of newborns die in the first few days after birth. Those who survive the critical moment may later struggle with:

• eye complications (as a result of persistent eversion of the eyelids);
• growth retardation;
• violations of motor abilities;
• psychological problems and lack of social skills.

Long-term use of retinoids can lead to complications in the liver, kidneys, and cardiovascular system. Unfortunately, the life of people with such a diagnosis is generally associated with great suffering, but medicine does not stand still, and every day new methods appear that significantly improve the patient's condition.

Prevention of ichthyosis Harlequin

There is no way to prevent this disease and the unborn child. However, before marriage, you can check yourself and your future husband/wife for genetic mutations (there is a special test). If both spouses have abnormalities in the ABCA11 gene, you should consider refusing to marry, or refusing to conceive children.

A photo

Harlequin ichthyosis disease photo

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. skin. The term "ichthyosis of the skin" combines a large number of diseases in which there is a change 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 metabolism. fatty acids when excess amounts 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;
• pathology thyroid gland;
• violations of the functionality of the sex glands, adrenal glands;
• shift in work or formation 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, ichthyosis of the skin occurs along with concomitant dermatological diseases. chronic course: 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 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 are present on the baby's body. different shapes grey-brown. 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 skin ichthyosis of any classification require complex treatment, proper and regular skin care. Therapeutic treatment ichthyosis of the skin 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.

At severe forms ichthyosis of the skin 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 medications 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.

Ichthyosis (from the Greek ichthys - “fish”) is a genetically determined skin disease characterized by its excessive keratinization with deformation like fish scales.

Ichthyosis - excessive keratinization of the skin with deformation like fish scales

In case of a disease, both individual areas of the skin and the entire skin can be involved in the pathological process; the degree of change also varies widely.

Ichthyosis has been known since ancient times: references to it are found in ancient Indian and Chinese texts dating back to the 4th–3rd millennium BC. e. For the first time, the full clinical picture of the disease was described at the beginning of the 19th century by R. Willan; later, in 1842, W. Wilson proposed the name “skin disease in the form of fish scales” to designate the pathology.

Currently, on the basis of data from comprehensive studies (immunological, genetic, cyto- and histological), the presence of more than 50 nosological forms of the disease has actually been confirmed.

Synonyms: diffuse keratoma, sauriasis, ichthyosiform dermatosis.

Causes and risk factors

Until now, despite a comprehensive study of the problem, there is no unambiguous position on the etiology and pathogenesis of the disease.

The trigger mechanism of structural changes in the skin is reliably known: mutations or impaired expression, covering more than 50 genes encoding DNA repair, lipid synthesis, adhesion and desquamation processes (fastening of horny scales to each other and their exfoliation, renewal of the epidermis surface), processes of cell differentiation, etc. The presence of several mutation points in one gene is characteristic, which causes a multitude of clinical forms diseases.

With ichthyosis, the formation of keratin and enzymes involved in keratinization, structural proteins of cell membranes, proteins responsible for keratinization of the epidermis and the formation of a fatty barrier of the skin are disrupted.

The disease is inherited in an autosomal dominant manner, less often - recessively or X-linked.

The causes of acquired ichthyosoform conditions, as a rule, are the following diseases and pathological conditions

• lymphoma;
• lymphogranulomatosis;
• leprosy (leprosy);
• AIDS;
• malabsorption syndrome;
• taking drugs cimetidine, nicotinic acid;
• malignant neoplasms of the skin;
• hypovitaminosis A; and etc.

Forms of the disease

Currently, many classifications of the disease based on various criteria have been proposed.

Based on the presence or absence of a genetic defect:

• hereditary ichthyosis, subdivided into autosomal dominant (vulgar) and autosomal recessive (lamellar, "Harlequin fruit", Komel's linear ichthyosis, Lambert's spiny ichthyosis);
• hereditary syndromes, which include ichthyosis as a symptom (Netherton, Refsum, Popov, Rud, Jung-Vogel, Sjogren-Larsson syndromes);
• acquired forms of ichthyosis (symptomatic, senile and discoid).

According to the severity of the current:

• severe form of ichthyosis, not compatible with life;
• moderate severity;
• late form [delayed, developing during the first months (rarely years) of life].

An unfavorable prognosis for life is noted with ichthyosis of the fetus: newborns usually die during the first days or weeks of life.

Based on the type of inheritance:

• autosomal recessive;
• autosomal dominant;
• X-linked.

Clinical and morphological forms (depending on the nature of keratinization):

• retention;
• proliferative;
• acantokeratolytic.

The most widespread in recent years has been the classification proposed in 2009 at the I Consensus Conference on Ichthyosis, based on the principle of syndromicity:

• non-syndromic forms, limited only to damage to the skin (vulgar and X-linked recessive ichthyosis, "Harlequin fetus", lamellar, congenital ichthyosiform erythroderma, swimwear-type ichthyosis, epidermolytic and superficial epidermolytic, etc.);
• syndromic forms of the disease, in which internal organs are involved in the pathological process (Roud, Sjogren-Larsson, Netherton, Refsum syndromes, KID-, CHIME-, CHILD-syndromes).

Symptoms

The group of ichthyosis is formed by more than 50 clinical and morphological forms, which implies a variety of manifestations of the disease. However, a number of common symptoms can be identified:

• pronounced thickening of the stratum corneum of the epidermis, the presence of skin scales, keratinization zones;
• peeling and dry skin;
• change in the nail plates (onychogryphosis - deformity of the "bird's claws" type, detachment of the nail from the underlying soft tissues, delamination and fragility of the plate), hair (dryness, brittleness, thinning) and teeth (multiple caries);
• deepening of the skin pattern;
• skin rashes of various colors and shapes.

The disease is characterized by an exacerbation in the autumn-winter period, remission in the warm season, a decrease in painful manifestations during puberty.

In addition to general clinical symptoms, various forms ichthyosis have a number of characteristic features.

Ichthyosis vulgaris, representing more than 90% of all cases of the disease, develops during the first 2-3 months of life, rarely - during the first 2-3 years, is lifelong. In this case, there is a widespread lesion: the skin is dry, rough, thickened, dirty gray in color with a layering of many scales. The most pronounced changes are noted on the extensor surfaces of the elbow and knee joints.

Ichthyosis has been known since ancient times: references to it are found in ancient Indian and Chinese texts dating back to the 4th–3rd millennium BC. e.

Depending on the nature of the peeling, there are several clinical options ichthyosis vulgaris:

• xeroderma - dryness and roughness of the skin without scaly layers, is an abortive form of simple ichthyosis;
• simple ichthyosis - damage to the entire surface of the body, including hairy part heads, small scales with a dense center attached to the underlying tissues;
• brilliant ichthyosis - transparent scales, mosaically located, localized mainly on the lower extremities;
• white ichthyosis - the scales are whitish-yellow in color and look like asbestos fibers;
• serpentine ichthyosis - the layers are rough, brownish in color and resemble snake scales.

Skin manifestations diseases are accompanied by chronic pathologies of many internal organs: bronchial asthma, vasomotor rhinitis, chronic conjunctivitis, various visual impairments, pathologies of the hepatobiliary zone.

Lamellar ichthyosis (collodion fetus) manifests itself already at the time of birth with reddened skin of a newborn, covered with a hard yellowish film like a frozen adhesive solution (collodion). In some cases, the film transforms into scales and then disappears without a trace, but more often the scales remain on the skin for life.

Fetal ichthyosis (fetal, "Harlequin fetus") is formed on the 4-5th month of intrauterine development; manifestations of the disease are fatal, so the pregnancy is spontaneously interrupted or ends with the birth of a dead child. With a live birth, the newborn dies in the first days from exhaustion or infection of skin defects. The skin of newborns is covered with a horny shell, consisting of gray-black shields up to 1 cm thick, smooth or serrated, separated by furrows and cracks. The mouth opening is stretched or, on the contrary, sharply narrowed, resembling a trunk. Facial features, auricles, limbs are deformed, eyelids are twisted.

Komel's linear circumflex ichthyosis affects more often girls in the first year of life. On the trunk and flexion surfaces of the extremities, polymorphic erythematous rashes, small vesicles, foci of lichenification appear, on the face and scalp - small-lamellar peeling. Patients may experience a delay in mental and physical development.

The main complications of ichthyosis are the addition of a secondary infection and the development of sepsis, followed by death.

X-linked ichthyosis is diagnosed exclusively in males and develops during the first weeks of life. As a rule, the entire skin is involved in the pathological process, with the exception of the palms and soles, as the disease progresses as they grow older. The scales in this case are large, dark in color, tightly seated, reminiscent of scutes. Skin manifestations in X-linked ichthyosis may be accompanied by epilepsy, delayed mental development, mental illness, endocrine disorders.

Hereditary syndromes in which ichthyosis is represented by a separate symptom:

• Netherton's syndrome - congenital ichthyosis and hair changes in combination with atopy, predominantly women are ill;
• Refsum syndrome - ichthyosis, retinitis pigmentosa, polyneuritis, mental retardation;
• Rud's syndrome - a combination of ichthyosis, damage to the nervous system (epilepsy, mental retardation, polyneuritis), sometimes in combination with pathology of the hematopoietic (macrocytic anemia) and endocrine (infantilism) systems;
• Sjogren-Larsson syndrome - hereditary ichthyosis, spastic paralysis and mental retardation;
• Popov's syndrome - congenital ichthyosis, dwarf growth, dementia and multiple osteoporosis.

Diagnostics

Diagnosis of the disease is based on an assessment of the characteristic clinical picture, electron microscopy data.

With cyto- and histological examination sharp thinning or complete absence granular layer and extensive intercellular edema of the basal layer of the epidermis, deformation of the basement membrane, perivascular lymphocytic infiltrates in the papillary dermis, changes in the shape and organelles of epidermocytes.

With ichthyosis, both individual areas of the skin and the entire skin can be involved in the pathological process; the degree of change also varies widely.

Treatment

The treatment of ichthyosis is symptomatic, aimed at reducing the dryness of the skin and softening the horny scales:

• moisturizing creams and ointments;
• keratolytic agents;
• retinoids.

In addition to local remedies, in the treatment of ichthyosis, the following are used:

• immunostimulating drugs;
• vitamin therapy;
• glucocorticosteroid hormones;
• UV irradiation;
• thalasso and pelotherapy.

Since in the cold season, with insufficient air humidity, the condition of patients worsens, sanatorium treatment is recommended in a warm, humid climate.

Possible complications and consequences

The main complications of ichthyosis are the addition of a secondary infection and the development of sepsis, followed by death.

Forecast

The prognosis for recovery from ichthyosis is usually unfavorable: a significant regression of symptoms is observed in isolated cases. The disease has a lifelong character, proceeds in waves with episodes of exacerbations and remissions, and progresses under the influence of aggressive factors.

An unfavorable prognosis for life is noted with ichthyosis of the fetus: newborns usually die during the first days or weeks of life.

The favorable prognosis is reduced in the presence of multiple concomitant pathology of the internal organs, the extent of the lesion.

Prevention

The main preventive method is preliminary medical genetic counseling, especially if the hereditary history is aggravated by cases of ichthyosis.

If there is a high risk of having a sick child in a couple, future parents are advised to abandon pregnancy planning.

If ichthyosis is detected in utero, in severe cases, it is recommended to terminate the pregnancy.

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