Is ichthyosis inherited? Is ichthyosis transmitted? Ichthyoses. Clinical picture of individual forms of ichthyosis

Treatment includes emollients and sometimes oral retinoids.

Xeroderma. Xeroderma (xerosis), or dry skin, is not an inherited condition and is not associated with systemic diseases. Dry skin occurs as a result of the skin losing water, which leads to the formation of thin superficial scales.

Risk factors for the development of kerosis include:

living in a dry, cold climate;
elderly age;
atopic dermatitis;
Frequent bathing, especially when using harsh soaps.

The use of any herbal components for external therapy must be agreed with the attending physician. Early diagnosis, identification of concomitant diseases and proper treatment can reduce the number of relapses, alleviate the condition of patients with ichthyosis, improve the quality of life and increase its duration.

This article discusses one of the most difficult genetic diseases – cutaneous ichthyosis. Its biochemical nature has not yet been fully studied. However, some diagnostic and treatment methods have already been identified.

What is ichthyosis?

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

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

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

The following classification of forms of ichthyosis can be given:

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

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

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

There are several degrees of complexity of cutaneous ichthyosis:

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

Causes of skin ichthyosis

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

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

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

Forms and symptoms of skin ichthyosis

Ichthyosis vulgaris

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

Symptoms:

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, it becomes dry and brittle, caries appears, nails split, and conjunctivitis develops.
The disease progresses depending on the degree of gene mutation The larger it is, the more severe the stage of ichthyosis. With a mild form, represented only by dryness and slight flaking of the skin, an abortive course is possible.
Ichthyosis, like any disease, leads to a decrease in the body's immunity, as a result of which, space opens up for the development of allergies or purulent infections. As the disease progresses, it also damages the cardiovascular system and affects the liver.

Congenital ichthyosis

Congenital ichthyosis (Harlequin ichthyosis), According to its name, it 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 scutes of gray-black color, also dotted with grooves and cracks at intervals.

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

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

The consequences of congenital ichthyosis are associated pathologies:

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

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

Lamellar ichthyosis

Also has a name "lamellar". It manifests itself from birth, as it is also congenital, and is very difficult.

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

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

deafness;
blindness;
dwarfism and others.

Recessive ichthyosis

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

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

Epidermolytic ichthyosis

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

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

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

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

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

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

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Diagnostics

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

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

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

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

Treatment

Shiny ichthyosis

Dense horny scales of a dirty white, “marble” color form on the skin, most often located on the extremities, at the mouths of the hair follicles. The scales shine with a characteristic shine, reminiscent of mother-of-pearl. The scales on the periphery peel off, the edges are raised.

Black ichthyosis

Localized in the abdomen, lower back, rear surfaces the upper and anterior surfaces of the lower extremities, on which black horny plates are formed and normal skin on the face, in natural folds, on the lateral surfaces of the torso and the medial surface of the extremities is preserved.

Lamellar ichthyosis

Characterized by thick and keratinized scales. The skin is dry, brownish-gray scales form dense, rectangular or oval plates, up to 3 cm in size. The plates are separated by grooves, slits, and cracks. In addition to the extremities, ichthyosis serpentina affects the front of the body, back and face. Silvery scales are often found on the head, as in dry seborrhea. Often with this form of ichthyosis, the ears are deformed, attached to the scalp, the eyelids are shortened and inverted; Gothic hard palate.

Hystrixoid ichthyosis

A severe type of ichthyosis proceeds as follows: dense and thick accumulations of horny plates of a dirty gray color appear on the surface of the skin in the form of conical protrusions, spines or needles, sharply (5-10 mm) protruding above the skin level. The plates are separated by grooves. This type of ichthyosis is rare.

Diagnosis of ichthyosis

Diagnosis is based primarily on clinical data.

in case of ichthyosis, histological examination is important (absence or thinning of the granular layer of the epidermis);
in X-linked ichthyosis: reduced functioning of steroid sulfatase in amniotic cells or chorionic tissue using DNA probes;
with congenital bullous ichthyosiform erythroderma: detection of a pattern of epidermolytic hyperkeratosis during histological examination.

Prenatal diagnosis of congenital ichthyosis is carried out with an appropriate family history. A fetal skin biopsy performed between 19 and 21 weeks reveals thickening of the stratum corneum, which is not normal until the 24th week. This corresponds to lamellar ichthyosis, epidermolytic hyperkeratosis, “Harlequin fruit”. When culturing amniocytes and chorionic cells, it is possible to identify mutations in keratins 1 and 10. This enzyme deficiency occurs in X-linked ichthyosis.

Differential diagnosis

psoriasis;
seborrheic dermatitis;
xeroderma.

Forecast and prevention of ichthyosis

The prognosis of ichthyosis is unfavorable, since even with mild forms of the disease, the addition of pathologies and the development of metabolic diseases lead to complications.

Prevention of ichthyosis - counseling before pregnancy to determine the degree of genetic risk. If fetal ichthyosis is detected during amniotic fluid analysis, then termination of pregnancy is recommended. For couples who are at high risk of having a child with ichthyosis, it is better to refrain from pregnancy in favor of adopting orphans.

Ichthyosis is a disease in which remission cannot be achieved, so prevention of the disease is similar to treatment. In addition to keratolytic and moisturizing therapy, patients with ichthyosis are recommended to use indoor humidifiers or, if possible, move to a warm city with high air humidity. In addition, they use cool water for washing and visit specialized resorts.

How is ichthyosis inherited?

The mechanisms of inheritance of ichthyosis depend on the type of disease.

Ichthyosiform erythroderma nonbullous and lamellar (lamellar) ichthyosis are inherited in an autosomal recessive manner.

If both parents are carriers of the disease (heterozygous), but are not sick themselves, then the probability that the children will be sick is 25%, carriers 50% and healthy (will not inherit the disease) 25%.
If one parent is sick and the other is a carrier of the mutation, then the probability of the disease for each of the children is 50%, as with dominant inheritance. If both parents are sick, then all children will be sick.
If one parent with an unknown genotype is healthy and the other is a carrier, the risk of having a sick child is low.

Parental consanguinity increases the risk of disease in children. The manifestation of an autosomal recessive disease in a child of healthy parents becomes a consequence of a newly appeared spontaneous mutation of the recessive allele.

Ichthyosis vulgaris, Darier's disease and ichthyosiform erythroderma bullosa are inherited in an autosomal dominant manner.

Each patient has one parent who is sick (exceptions: the disease is caused by a new mutation; the parent has a mutant allele that does not manifest itself as a disease).
The patient transmits the disease to children with a 50% probability.
Only healthy offspring are born to healthy children of a patient.
Men and women are equally susceptible to the disease.
Both parents are equally likely to pass the disease on to their sons and daughters, including father-to-son transmission.

Questions and answers on the topic "Ichthyosis"

Question:Tell me, if my husband has congenital ichthyosis (he has mild peeling of the skin), then the unborn child may inherit the same form of ichthyosis or may be born with some other, more severe one?

Answer: Hello. The mechanism of inheritance depends on the type of ichthyosis. You need an in-person consultation with a geneticist for research.

Question:Hello. My daughter has a skin disease: ordinary ichthyosis. Tell me how to sunbathe correctly? Do I need to use sun protection? How long can you stay in the sun? After all, with this disease, sunbathing is necessary. How to take care of your skin after sunbathing so that it doesn't look too flaky?

Answer: Hello. It all depends on how old your child is and what phototype the baby’s skin belongs to. If the child is under 3 years old, then exposure to direct sunlight is contraindicated. If your baby's skin is very light, he or she blonde hair and eyes, this is another additional factor to avoid the sun. The protectant must have good moisturizing properties, for example, milk for children. Another important step in skin care in the summer when you are ill is deep moisturizing the skin after sunbathing.

Question:Hello. My son is 12 years old. Skin problems. A diagnosis of ichthyosis is made. Tell me who can help him and how?

Answer: Hello. You need to consult a dermatologist who will prescribe complex treatment according to the type of this disease.

Skin thickening

Visual impairment

Cracks in the skin

Nail splitting

Mental retardation

Scales on the skin

Skeletal deformity

Missing nails

Decreased sweating

Bridges between fingers

Teeth crumbling

Strong lines on the palms and soles

Split ends

Ichthyosis is a pathology characterized by a disorder of the skin structure. As the disease progresses, the skin hardens and becomes covered with scales of varying sizes and colors. The disease is characterized by both mild dry skin and roughening of the skin to such an extent that it resembles fish scales. It is inherited - if such a disorder was detected in one of the parents, then there is a high probability of detecting such a disease in the child.

Depending on age, general health and immunity, the severity and severity of symptoms may vary. Ichthyosis begins to appear at the age of less than three years (except in cases of congenital defect), but such a skin disease can be diagnosed already in the first weeks of life. First, the skin dries out greatly, and then becomes covered with husk, the shades of which can vary, depending on the type of disease.

It is noteworthy that with this disease, not all skin is susceptible to neoplasms - the only exceptions are the bends of the elbows, the pits under the knees, the groin and the armpit area. In addition to the skin, teeth, nails, hair, and skeleton experience deformation. As the pathology progresses, the functioning of internal organs is significantly disrupted, the eyes are often affected, and visual acuity decreases.

Only an experienced dermatologist can diagnose and explain how to treat ichthyosis. Since this skin disease is hereditary, prophylactic agents does not exist from him.

Etiology

The main reason for the appearance of ichthyosis is genetic predisposition and gene mutation (can be transmitted from parents to children or through a generation). This means that if one of your close relatives is sick with such a disorder of the skin structure, then there is a 25% chance that a newborn baby will have such a disease. Ichthyosis is caused by improper protein metabolism, due to which amino acids accumulate in the blood, which disrupt fat metabolism and contribute to increased levels of cholesterol and amino acids.

Varieties

According to the forms of the disease, ichthyosis can be:

congenital– forms and progresses in the womb at the beginning of the second trimester of pregnancy. Childbirth always occurs ahead of schedule, the child appears completely covered with scales of a grayish-yellow hue, of various sizes and structures (can be smooth or pointed). With this type, babies may have no nails, or rather, they are replaced by husks. The baby's oral cavity is very narrowed by growths; sometimes it is even difficult to insert a feeding tube for the baby. The ears are abnormally shaped and completely filled with husk, and the baby's eyelids are turned outward due to severe stretching. In addition, the child may have bridges between the fingers, a deformed skeleton, pronounced clubfoot and curvature of the hands. With congenital ichthyosis, there is a high probability of the baby dying in the first few weeks of life;
ordinary, which is also called vulgar, because it appears on visible areas of the skin, most often on the face. Usually it does not bother the patient and proceeds easily. The skin looks as if it is very dry and only small thickening of the skin may form on the palms and soles. This type is often chronic;
dystrophic– which affects not only the skin, but also teeth, hair and nails. This type of disease is characterized by increased fragility and shedding of hair, splitting of nails, tooth enamel wears off, causing teeth to rot and crumble, and caries spreads. Patients also have a genetic predisposition to such visual impairment as, which is expressed at an early age. The eyes are also susceptible to retinitis. Due to a person’s reduced immunity, any diseases will be chronic, resulting in added problems with work internal organs and often appears;
epidermolytic- one of the forms of congenital disease. The baby's skin is red, as if burned by boiling water. The course of this type of ichthyosis is much easier than with intrauterine ichthyosis, since the scales can fall off on their own. skin. The skin on the palms and soles is white and very thick. Rarely, epidermolytic ichthyosis may be accompanied by a symptom such as hemorrhage - in this case, the probability of death of the newborn is high. But if this is not observed, then the course of the disease is favorable, and with age the disease can only be expressed in the form of infrequent cases of exacerbation;
recessive– which occurs only in the male population and appears a few weeks after childbirth. In this case, the scales are dark in color and very dense. The older the child, the more noticeable the consequences of such ichthyosis will be - a delay in mental development, skeletal deformation, etc.

For reasons of occurrence, the disease may be:

genetically determined;
acquired - can only be a consequence of pathological processes in the body that have greatly reduced a person’s immunity, for example, various gastrointestinal diseases or.

By severity of consequences:

severe - premature babies are born who die in the first few weeks of life from intolerance to the disease;
medium - children remain alive, but there is a lag in mental development and any illness will be chronic;
relatively mild - a person lives with such a disease all his life, but symptoms appear periodically.

Symptoms

The symptoms for all types of ichthyosis are almost the same, only the intensity of their manifestation differs:

dry and cracked skin;
the appearance of scales of various sizes and colors on the skin. In especially severe manifestations, it appears in the ears, mouth, instead of nails, in the nose;
in some types of the disease, the scales can be so dense that they form a coating similar to a cocoon or shell;
strong highlighting of lines on the palms and soles, while the skin white and compacted;
inability or decreased sweating;
delamination, increased brittleness of nails or their complete absence;
increased body temperature, sometimes to critical levels;
splitting and hair loss;
violation of the structure of the teeth.

Diagnostics

Diagnosing the disease is quite easy even by external manifestations, because specific husks and symptoms can only indicate ichthyosis. Additional examinations can be carried out by a dermatologist, gynecologist and ophthalmologist. This is done in order to determine the type of disease. To exclude other diseases in the body accompanied by ichthyosis, a skin biopsy and laboratory tests of a scale sample are performed.

Treatment

Treatment of ichthyosis is complex and consists of:

taking medications;
vitamin therapy;
medicinal ointments;
folk remedies.

Medicines and vitamins are aimed at strengthening the immune system to protect the body from diseases that may accompany ichthyosis. Such ailments can be various allergic infections. This treatment includes taking hormonal substances.

Depending on the age of the patient and the intensity of his symptoms, injections or preparations containing vitamins A, B, C, E are prescribed in appropriate doses. This is necessary not only to strengthen the immune system, but also to soften the growths on skin. Peeling can be softened by specially designed ointments, which are prescribed by a dermatologist for each patient, selected depending on the type and course of the disease. In some cases, regular baby moisturizers will help.

If ichthyosis occurs in a chronic form, doctors recommend taking preventive baths in a clinical setting, which consist of peat, silt, seaweed, and herbal medicine using retinoids, artificial substitutes for vitamin A, is also indicated.

Treatment of ichthyosis can be carried out at home with folk remedies, which involve preparing an ointment from the following components:

St. John's wort oil;
butter;
melted pork fat;
pine resin;
beeswax;
propolis;
fresh celandine;
chalk.

Traditional methods include preparing an infusion from:

wheatgrass root;
tansy flowers;
plantain leaves;
horsetail;
motherwort.

In addition, to treat ichthyosis you can use:

rowan;
oats;
sea buckthorn (dried or fresh);
peony oil

If you think that you have Ichthyosis and the symptoms characteristic of this disease, then doctors can help you:

Inherited ichthyosis - combines a wide group skin diseases, which primarily affect keratinized skin.

Reasons for the development of ichthyosis

Pathogen and development conditions of this disease To date, it has not been possible to identify it; doctors only know that the basis of this disease is disturbances in the structure of human genes, which determine the shape and content of keratins. The main types of ichthyosis are the lamellar form of the disease, in which the number of transglutaminase keratin elements and proliferative hyperkeratoses decreases, and there is also ichthyosis of the X-shaped form of the disease, which provokes a sharp deficiency of sterol sulfatase elements.

Symptoms of ichthyosis

Traces of detachment of the upper layer appear on the human skin, which resemble the shape of fish scales. This violation of the skin structure can have varying degrees of threat to human health and even life. Ichthyosis can manifest itself as a barely noticeable detachment of the upper layer of the skin, and there are varieties of ichthyosis that leave very deep wounds on the human body, which are sometimes incompatible with life. Often, along with the development of ichthyosis, the human body comes under the influence of a number of associated this disease diseases.

Ichthyosis of the usual form

This type of ichthyosis is the most common variant of this disease. Mostly children suffer from this disease. preschool age, in the period from 1 to 2 years. Scientists have noted the fact that not a single case of the disease is known in children under 3 months of age, which is explained by the occurrence in the skin system of babies metabolic processes, occurring only in the first months of human life.

Congenital ichthyosis

This form of ichthyosis combines manifestations of a congenital type of disease and erythroderma. The disease develops as a consequence of damage functional system skin, which is responsible for the level of keratinization of the human skin. The disease is transmitted along a hereditary line, an autosomal recessive type. A child can inherit this disease if both parents are carriers of the disease, and then not in all cases, which is due to the peculiarities of the change in this gene.

As a rule, the disease can manifest itself in several main forms - mild and severe types of ichthyosis. The first symptoms of the disease appear during the child’s intrauterine life, but it is not possible to diagnose the occurrence of the disease during normal fetal development.

Ichthyosis with manifestation of pilaris

This form of ichthyosis is a hereditary type of disease. The disease has very minor manifestations, manifests itself quickly and is effectively eliminated. The disease belongs to the so-called abortive illnesses. In most cases, the disease occurs in children older than the age group.

The disease begins to manifest itself during puberty. Both girls and boys suffer from the disease. The focus of lichen is the area of the hands (in the area elbow joint), back, thighs and buttocks. The manifestation of the disease is small, pointed nodules on the skin, which are densely located on the skin, forming an interconnected structure. Ringworm destroys hair follicles and sweat glands, leaving behind skin scars that often resolve on their own with age.

Treatment of ichthyosis

Ichthyosis acquired with age is highly treatable and preventable, but many forms of congenital ichthyosis are very difficult to eliminate.

When treating this disease, doctors actively practice techniques for effectively moisturizing the stratum corneum of the skin. To do this, it is recommended to take baths followed by procedures such as applying moisturizing creams and ointments to the skin, which are based on propylene glycol, glycerin, lactic acids and many other keratolytic agents. Moisturizing ointments can be used with or without occlusive dressings.

Prevention of ichthyosis

It is currently impossible to eliminate the causes of the disease. Parents planning to have a child can only prevent their child from developing pathologies and serious symptoms associated with the action of the causative agent of ichthyosis. Parents of future children can visit one of the many centers in our state where research is carried out on the processes of changes in the chains of the human genome and get expert advice on the possibility of having absolutely healthy children.

Remember that the care and responsibility for the birth of happy and healthy children lies only with the parents. The decision to expand your family with a child should be thought out and fully weighed.

– a skin condition characterized by thickened, dry and flaky skin. In some forms, patients experience intolerance to serious physical activity and extreme heat, as the skin loses its ability to sweat.

Unfortunately, ichthyosis can be more than just a cosmetic problem. Sometimes it significantly impedes the normal functioning of the skin. The most common complication is secondary infections. Their occurrence is due to the fact that dry skin is prone to cracking, and cracks create favorable conditions for bacteria to enter and actively multiply.

Hyperkeratosis with ichthyosis - pathological process in the form of the appearance of scales on the skin that resemble fish scales.

Causes

As a rule, ichthyosis is inherited from generation to generation, and it can be noticed in a child at a fairly early age. early age(up to four years), but sometimes it appears immediately at birth. The main reason in this case is a gene mutation.

Sometimes acquired ichthyosis occurs (senile, symptomatic). His key reasons: endocrinopathies (insufficient function of the adrenal glands, gonads, thyroid gland), diseases of the hematopoietic system, hypovitaminosis (lack of various vitamins in the body), senile involution of the skin (age-related changes).

There are many forms of ichthyosis and a number of rare syndromes.

Symptoms

The symptoms of ichthyosis are best noticeable in winter, when cold weather sets in with minimal air humidity. With ordinary (vulgar) ichthyosis, which occurs most often, the skin first becomes rough and dry, and later becomes covered with gray-black or whitish small scales, firmly connected to each other. At the same time, the popliteal and elbow bends remain unaffected, groin area, armpits. Carriers of the disease often suffer from fragility and thinning of nails, hair and teeth. Conjunctivitis may appear as a complication. In addition, the disease is accompanied by a decrease in immunity, which, in turn, leads to allergies.

Diagnosis of ichthyosis is based on several factors: the age at which the patient first developed symptoms; personal and family histories of ichthyosis; the presence of other skin diseases. Sometimes it is necessary to carry out a series of tests in order to exclude alternative possible reasons the occurrence of scaly and dry skin. One of the most effective ways- skin biopsy.

Treatment

Regardless of what the initial causes of ichthyosis are, it cannot be completely cured. Currently only carried out symptomatic therapy. It is prescribed by a dermatologist based on the severity of the disease.

Indispensable components of the course of eliminating pathology are vitamins of groups A, B, C, E, as well as a nicotinic acid. They help soften the scales. Creams and ointments containing lipamide and vitamin U are considered an effective addition to them.

If there is a need to stimulate the immune system, drugs with high content iron and calcium, aloe extract, gamma globulin and blood plasma transfusions. Severe stages of the disease, as well as its congenital form, often require hormonal therapy.

Local treatment of ichthyosis is widespread. It consists of taking baths with the addition of a solution of potassium permanganate (potassium permanganate). Brings good results in the fight against disease ultraviolet irradiation, heliotherapy (sunbathing), thalassotherapy (a set of spa treatments based on sea water and dirt, algae, silt), carbon dioxide and sulfide baths.

Sincerely,

Update: December 2018

87% of all congenital skin lesions are ichthyoses. These are diseases in which mutations occur in the genes of the epithelium, which disrupts its normal structure. They can manifest themselves with various symptoms, but there is a sign that unites all forms - increased keratinization and peeling of the surface layers of the skin. Treatment of ichthyosis remains a challenge for modern medicine. However, at present, there are techniques that can improve the quality of life of patients (including infants).

In rare cases, cutaneous ichthyosis can occur in adults. As a rule, this is due to the presence of another serious illness that disrupts the functioning of the body. Diagnosis and treatment of older patients will not have any fundamental differences.

Skin with ichthyosis

The human epidermis has a complex structure - it consists of 5 layers. The deepest is represented by stem cells, which divide and give rise to all other cells of the epidermis. The most superficial layer is the stratum corneum. It is represented by scales - former cells, which have undergone partial disintegration and filling with keratin (a protein that gives strength)

Fine, stem cell turns into horny scales in 21 days.

With ichthyosis, the normal cell cycle is disrupted. Due to an increase in the amount of keratin and a reduction in the lifespan of cells of all layers, excessive formation of horny scales occurs. The surface layer (horny) significantly increases in thickness and is actively desquamated. Dystrophic processes occur throughout the epidermis, due to which the skin is unable to provide a protective function.

Causes of congenital ichthyosis

Any congenital ichthyosis occurs due to mutations - changes in the normal structure of genes. This leads to disruption of the creation of proteins, enzymes and other substances responsible for the formation of the stratum corneum. A credible reason Their occurrence is not clear, but the following unfavorable factors are identified:

Burdened genetics of the parents - the presence in the pedigree or in the children of any hereditary diseases (Patau, Down, Shereshevsky-Turner syndromes, congenital deformities, ichthyosis, etc.);
Bad habits of parents: drinking alcohol (especially dangerous - during pregnancy and 6 months before conception), smoking and substance abuse (similar period), drug addiction (regardless of duration and doses);
The presence of chronic infections in the bodies of both parents (not only genital, but also somatic diseases: pyelonephritis, gastritis, hepatitis and others);
Any contact with products of hazardous production (increased radioactive background, work in production, emissions of heavy metals into the atmosphere, etc.).

Any adverse influences that affect parents are reflected in their children. The condition of the organisms, both father and mother, is of equal importance. Therefore, the cause of ichthyosis should be sought specifically in the child’s family.

Forms of congenital ichthyosis

There are two large groups of ichthyoses, depending on the time of onset of symptoms and the location of the mutation:

Ichthyosis of newborns(linked to the female sex chromosome) - these forms begin to develop in the child in utero, so he is born with already changed skin. The vast majority of patients are boys, and the disease is inherited from their mothers. This group includes:
- lamellar ichthyosis;
- ichthysioform erythroderma;
- bullous ichthysioform erythroderma;
- Harlequin ichthyosis.
The differences between these forms will be discussed in more detail in the chapter on symptoms of the disease;
Delayed ichthyosis(the mutation is located in non-sex chromosomes) - the first symptoms of the disease begin to appear after 2-12 months. They are much milder than ichthyosis in newborns and slightly reduce the quality of life of patients. This group includes only vulgar ichthyosis.

The various forms differ significantly in symptoms and course of the disease. As a rule, it can be determined by external signs, from the first days of manifestation of ichthyosis. This allows you to timely choose child care tactics and begin treatment.

Symptoms of congenital ichthyosis

What does ichthyosis look like in newborns?

At birth, a child with ichthyosis is as if “packed” in a dense film, light brown in color. This condition is referred to as collodion fetus. After a certain time (from several hours to a week), the film begins to come off, after which the condition of the baby’s skin should be monitored.

There are four options for how ichthyosis will manifest itself in a newborn in the future. The symptoms of each form are so specific that the diagnosis can be made after a routine examination of the baby. We present the most characteristic features for each of them:

Form of ichthyosis	Characteristic external signs
Lamellar	Severe skin tightness; The baby's eyelids and lips are turned outward; Deep cracks form between the large horny scales. These areas are constantly wet, as intercellular fluid passes through them freely; On the palms and feet there are deep cracks between thick scales.
Ichthysioform erythroderma	The baby is born in a “film” that soon begins to dry out, crack and separate; The skin has a burnt appearance - it is bright red, with minor areas of peeling; Tightness of the skin is noted; silvery stripes form on its surface with age; In some patients, the ears take on an irregular shape.
Bullous ichthysioform erythroderma	It appears in the same way as the previous form. The difference is the additional formation of blisters and ulcers on the skin.
Harlequin syndrome	The most severe and rarest form of all ichthyoses. Manifests: Significant thickening of the stratum corneum of the epidermis over the entire surface of the body; Eversion of eyelids, lips; Deep cracks in the skin, like open wounds; Reduction in the size of the newborn’s head – microcephaly.

With age, the severity of symptoms weakens somewhat (with the exception of harlequin syndrome). The skin acquires a normal color, but its tightness and excessive peeling remain. With the laminar form, the patient can observe silvery stripes that persist for life.

Symptoms of vulgar (delayed) ichthyosis

The first signs of the disease in children begin to appear, on average, 2-12 months after birth. The onset of ichthyosis is typical in winter. Symptoms are much less pronounced than with other forms. It is characterized by the following manifestations:

Increased peeling of the skin over the entire surface of the body, except for the face, popliteal and axillary fossae;
The palms and soles acquire a characteristic appearance - the skin pattern is significantly enhanced, the grooves on their surface deepen, and the skin tone is reduced. Doctors figuratively call them “senile palms/feet”;
As a rule, on the hips and shoulders the stratum corneum thickens significantly in separate small foci. If you run your hand over the surface of the skin in these places, it will have a ribbed structure.

Vulgar ichthyosis is characterized by alternating exacerbations with periods of well-being. Symptoms intensify in winter and decrease somewhat in spring and summer.

Acquired forms of ichthyosis

In addition to congenital ichthyosis, there is an acquired form of this disease. The main reasons for its development are:

Lack of vitamin A, which is responsible for the normal functioning of the skin;
The presence of a malignant tumor and the development of paraneoplastic syndrome is a condition in which the immune system begins to “make mistakes” and attack healthy cells of the body (in this case, the skin);
Alcoholic ichthyosis - occurs due to impaired skin nutrition and damage to blood vessels.

Acquired ichthyosis, as a rule, is not life-threatening and is manifested by a small number of symptoms: increased peeling, increased skin pattern on the palms and feet, and the presence of cracks. The main method of treating this form is to eliminate the cause of the disease (destroy the tumor, compensate for the lack of vitamin, etc.). If it is ineffective, the therapy is the same as for congenital ichthyosis.

Treatment of ichthyosis

It is important to note next moment– it is impossible to get rid of this disease once and for all. Patients must control its course with medications and a certain lifestyle. Fortunately, for the treatment of skin ichthyosis of any form (with the exception of harlequin syndrome), effective methods have been developed that can eliminate most of the unpleasant symptoms.

General therapy

When a child is born with collodion fetus syndrome, he is immediately placed in a special incubator, in which a certain level of humidity (usually elevated) and temperature are created. From the first day of life of an infant with skin ichthyosis, the following groups of drugs are prescribed:

Glucocorticosteroid hormones (GCS) - it is not entirely clear why hormones have a positive effect on the course of ichthyosis. However, during clinical trials their effect has been fully proven. For treatment, Prednisolone and Hydrocortisone are most often used. The average duration of the course is 4-7 weeks, after which the dose begins to be gradually reduced;
Vitamin A - this drug improves metabolism in the skin and stimulates the formation intercellular substance. Doctors select the dose and form of the medication individually, but most often they use short courses (up to 2 weeks). Vitamin A preparations are available in active form, under the name Retinol/Retinol acetate. If you are allergic to it, you can use Acitretin as an alternative;
Antibiotics – the issue of prescribing antimicrobial drugs is decided individually for each patient. As a rule, they are recommended for use when a child has a high probability of developing an infection;
Intravenous infusions of electrolyte preparations and protein solutions (albumin) are necessary to improve general condition. As a rule, in newborns, infusions are made into the umbilical vein.

During exacerbations of ichthyosis, treatment is carried out according to a similar scheme. For each patient, the doctor adjusts the recommendations - removes antibiotics or intravenous infusions from the prescriptions, supplements the therapy with a course of additional vitamins (PP, B 1, B 6), etc. General treatment carried out until received good effect, in the form of a reduction in symptoms.

Local treatment

This is an integral part of the treatment of any form of ichthyosis. Since the surface layer of the skin is affected, the easiest way to influence it is to apply the drug in the form of an ointment or cream. Currently, combinations of the following groups drugs:

Ointments based on 2% urea (Uroderm);
Petrolatum;
Lanolin;
Emollients (Atoderm, Topicrem, Foretal, etc.) - these substances are not drugs and are approved for use in newborns;
Dexpanthenol;
Local hormones GCS (Elocom, Diprosalik, Akriderm, Belosalik, etc.).

For older patients, ointments with 2% salicylic acid can be additionally recommended, which reduce skin flaking. However, these drugs are contraindicated in children under 3 years of age. Currently, they are used quite rarely, replacing them with emollients.

Physiotherapeutic treatment

Therapy for ichthyosis in children should not be done without the use of physiotherapy. Optimal methods are UV irradiation and sunbathing, no longer than 30-40 minutes. These procedures stimulate metabolism in skin cells and reduce the severity of peeling. Treatment of older patients can be supplemented with regular visits to a Turkish or Russian bath (temperature no higher than 55 o C), regular visits to resorts (at least once a year) with sea air and a warm climate.

Features of caring for a child with ichthyosis

Typically, a newborn patient stays in the incubator for about 2-4 weeks. At this time it is carried out active therapy ichthyosis. It is important that after the acute symptoms subside and the child is discharged home, the parents provide him with proper care. List the fundamental provisions:

Follow the doctor's orders exactly. Even at the outpatient stage, it is necessary to continue treatment. Most often it consists of applying medicinal ointments, creams or emollients;
Monitor the condition of your child's skin. Best indicator the condition of a patient with ichthyosis is his skin. It is important not to miss the period of increased peeling, the appearance of signs of inflammation (redness of the skin, increased local temperature, swelling, formation of pustules), and causeless anxiety of the baby. These signs are especially significant in winter, when the likelihood of an exacerbation is high;
Do not injure the baby's skin. Since the function of the epidermis is impaired, the child’s skin is more susceptible to various injuries. Any wound is an entry point for infection. If possible, they should be avoided, and if that fails, treat them with 0.005% Chlorhexidine, or another antiseptic recommended by the doctor;
Do not use diapers with a rough surface, shawls, hard blankets and any other linen that may irritate the baby's skin. This will lead to the appearance severe itching and the baby's anxiety.

Feeding and physical activity these children should not be different from their peers. This will allow them to accept their illness in the future and become a full-fledged part of society.

Forecast

For all forms of ichthyosis, with the exception of harlequin syndrome, the prognosis is favorable. In most cases, the disease does not affect the lifestyle of patients in any way, if therapy is carried out in a timely manner. Throughout life, there will be periods of exacerbations (more often in winter) and normalization of skin condition. At the time of exacerbation, it is important to carry out adequate treatment.

Harlequin ichthyosis usually ends in the death of the child.

Prevention

Knowing the factors for the development of mutations, you can significantly reduce the risk of ichthyosis in your child. By planning your future pregnancy, eliminating adverse effects on your body and regularly monitoring its course, you will protect your child from most congenital diseases.

What needs to be done as part of preconception preparation (before pregnancy)?

Both parents should visit a health center/clinic to identify the outbreak chronic infection(untreated pyelonephritis, cystitis, gastritis, etc.) or ensure its absence;
The expectant mother should visit an antenatal clinic, undergo an examination by a gynecologist and take a necessary tests. The goal is to identify cervical pathology, endometritis, vaginitis and other diseases birth canal, hormonal regulation disorders;
If there have been cases of birth of children with chromosomal/gene mutations in the family, you should contact the medical genetic counseling center. It is available in every area, but, unfortunately, some analyzes will have to be performed for a fee;
Avoid alcohol, drugs and smoking at least six months before pregnancy;
Take if necessary folic acid, iodine preparations and any other medications necessary for the treatment of chronic diseases. It is important to achieve remission of these pathologies.

These simple recommendations will reduce the risk of congenital diseases in a child by 95%. During pregnancy, you should be monitored regularly antenatal clinic and attend all ultrasound screenings (first at 10-14 weeks; second at 20-24 weeks; third at 30-32 weeks). This will allow us to assess the intrauterine condition of the fetus and the possible presence of congenital diseases. Ultrasound can be repeated, if necessary, any number of times, since its safety for the child and mother has been proven by many clinical studies.

A disease, especially a congenital one, is easier to prevent than to treat. You should not expose yourself and your unborn child to suffering, since the modern level of medicine makes it possible, if parents wish, to avoid this.

Frequently asked questions from patients

Question:
Is ichthyosis inherited?

Yes, however, the pattern is sometimes quite difficult to trace. When a boy is born with ichthyosis, there is a high probability of a repeat case of the disease in the family. If ichthyosis occurs delayed, it is much more difficult to predict the recurrence of the pathology. A genetic counseling service can help with this.

Question:
Does the form of ichthyosis affect treatment in any way?

Yes, depending on the shape, the classic scheme changes somewhat. For example, with harlequin syndrome, doses of corticosteroids are increased, and with the bullous form, antibiotics are almost always prescribed. However, these nuances will be determined by the attending physician on an individual basis.

Question:
What to do if an ultrasound showed that the child will have ichthyosis? Can this be trusted?

The likelihood that the ultrasound showed correct result 92-95%. In this case, the decision is made only by the parents, after the doctor explains all possible options. They can either keep the child or terminate the pregnancy at any stage.

Question:
What side effects do drugs used to treat ichthyosis have?

IN clinical practice, With side effect There are practically no drugs for external use. We can say that they are safe. Since hormones are prescribed to patients with ichthyosis only for a short course, a persistent decrease in immunity or Itsenko-Cushing syndrome (hypercortisolism) also does not have time to develop.