Ichthyosis of the skin is a hereditary disease that occurs as a result of a violation of the processes of keratinization. In dermatology, several forms are distinguished, which are caused by different groups of defective genes. To understand what kind of disease it is, it is necessary to consider in detail the mechanism of its development. Ichthyosis appears in the form of small light or dark brown plates resembling fish scales. It proceeds according to the type of dermatosis and in case of severe deterioration of the skin condition gives serious complications.
Appearance mechanism
Ichthyosis disease belongs to the category of genodermatoses with a poorly understood mechanism of occurrence. The reason for its development is a gene mutation that is inherited from parents to children. Ichthyosis is a congenital disease, so it is impossible to completely eliminate its manifestations.
Metabolic metabolism failures, when aminocarboxylic acids accumulate in the blood and lipid absorption slows down, are the result of a gene defect. Violation of protein metabolism and an increase in the concentration of cholesterol in the blood serum is the main of the key causes of the appearance of genodermatosis. With a slowdown in biochemical and intensification of oxidative reactions, a violation of thermoregulation occurs. In most patients suffering from genodermatoses, dysfunction of the adrenal glands, thymus gland and gonads (ovaries and testicles) is diagnosed.
Congenital ichthyosis is genetically transmitted and is not contagious. In connection with the violation of the absorption of retinol, there are malfunctions in the sweat and sebaceous glands. Therefore, the processes of keratinization of the epidermis go wrong: the thickening of its stratum corneum is excessive (hyperkeratosis). Excessive synthesis of keratin leads to a change in the structure of the skin and a slower rejection of dead cells. Keratinocytes increase the density of the skin, and therefore a characteristic pattern appears on the body, resembling fish scales.
The function of the epidermis is to protect the deep layers of the dermis from pathogenic fungi, protozoa, bacteria and viruses. But if it is damaged by ichthyosis, resistance to pathogens decreases, which creates conditions for infectious tissue inflammation. In adults, the disease is sometimes complicated by pathologies of the liver, heart and other internal organs.
Symptoms and causes of different types of ichthyosis
Signs of ichthyosis appear from the first months of life in the form of excessive peeling, dehydration and thickening of the skin. Organic acids accumulate between the scales, which have pronounced cementing properties. Therefore, the skin of patients becomes rough and rough to the touch. The severity of clinical manifestations of genodermatosis varies greatly. A mild form of ichthyosis practically does not cause psychological or physical discomfort to patients.
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.In dermatological practice, 28 forms of the disease are distinguished. Each of them is characterized by its own symptoms and mechanisms of violation of the processes of keratinization of the epidermis. The most commonly diagnosed types of ichthyosis are:
- Vulgar. It occurs in most patients suffering from ichthyosis-like diseases. Ichthyosis vulgaris manifests itself in the first few years of life. Genetic failures and defects that are transmitted in an autosomal dominant manner are the cause of its development. The disease is disseminated in nature - it affects almost the entire body. Most often, lesions are localized on the extensor surfaces of the lower extremities. Translucent scales form on the skin, which often clog the mouths of the follicles. A distinctive feature of ichthyosis vulgaris is the absence of cornification areas in the flexion zones - under the knees, in the armpits, etc.
- Lamellar. This genodermatosis develops due to a defect in transglutaminase, which regulates differentiation, that is, the future "profile" of epidermal cells. Mutations in protein components lead to accelerated growth of the basal layer, causing the skin to thicken. Lamellar ichthyosis in newborns is manifested by the formation of a light brown film on the body. Over time, it takes the form of large scales. In patients, the skin on the face looks reddened and stretched. In some areas, there is excessive sweat and sebum secretion.
- X-linked. This form of the disease manifests itself only in boys, girls are carriers of mutated genes. Genodermatosis leads to insufficient production of steroid sulfatase, which is involved in the transformation of steroid hormones. Symptoms of the disease appear within 2-3 weeks after birth. Small plates resembling scales form on the skin. Such patients are often diagnosed with mental retardation and abnormal development of the skull.
- Follicular dyskeratosis. The disease affects not only the skin, but also the thymus and sex glands. It begins due to a defect in the enzymes involved in cell keratinization. It is characterized by the growth of the outer layer of the epidermis, a violation of keratinization and manifests itself in the form of nodular rashes on the skin. Over time, the scaly papules coalesce, resulting in weeping lesions.
- Ichthyosiform erythroderma. Autosomal dominant pathology occurs due to the production of defective keratin. The process of keratinization is disturbed due to changes in the differentiation of epidermal cells. Small bubbles form in the outer layers of the skin, and a thickening of the stratum corneum is also observed. It is manifested by soft tissue edema, weeping foci, delamination and thickening of the nails.
Ichthyosis is often accompanied by disorders in the work of the endocrine, musculoskeletal and nervous systems. Most often, the adrenal glands, gonads and thymus are affected. The main manifestations of the disease include dryness, peeling, hyperemia (redness) and deformation of the nail plates.
How dangerous is this
Mild genodermatoses do not cause much discomfort to patients, but in some cases ichthyosis can lead to severe complications. The disease is difficult to treat and rarely regresses. It proceeds in waves with periods of exacerbation and remission. Symptoms are aggravated in the cold season, causing the following complications:
- retinitis (inflammation of the retina);
- hormonal disorders;
- secondary infections;
- purulent inflammation of the skin;
- blood poisoning;
- chronic conjunctivitis.
Congenital ichthyosis of the skin in children leads to dysfunction of vital organs, which causes death. The prognosis worsens with endocrine and cardiovascular diseases.
Features of diagnostics
During intrauterine development, it is difficult to diagnose this anomaly. To reduce the risk of having a child with ichthyosis, they resort to molecular genetic diagnostics. With a high probability of gene mutation leading to genodermatosis, doctors recommend refraining from pregnancy.
It is easy to determine ichthyosis in children and adults by the characteristic clinical manifestations. Congenital forms of the disease are differentiated from scaly lichen, erythroderma, neurodermatitis. To confirm the diagnosis, the following studies are carried out:
- histological analysis;
- clinical blood test;
- microscopic examination.
To detect skin diseases in early pregnancy, they resort to a biopsy of fetal tissues, which is carried out at 20-21 weeks. In this case, ultrasound examination is not considered informative.
How to treat ichthyosis
Methods of therapy are determined by the characteristics of the course of genodermatosis. Treatment of skin ichthyosis involves the use of drugs from several groups, the action of which is aimed at restoring the processes of exfoliation of keratinized cells and softening the epidermis. To relieve the symptoms of the disease, apply:
- keratolytic agents (silver nitrate, Ichthyol, Naftalan) - eliminate hyperemia, relieve inflammation and accelerate the exfoliation of skin cells;
- retinoids (Adapalen, Roaccutane, Airol) - compensate for the lack of vitamin A in the body, which contributes to the normalization of skin functions;
- hormonal ointments (Kremgen, Akriderm, Diprosalik) - eliminate inflammatory processes in the skin and prevent the occurrence of ulcers;
- membrane-protective agents (Dermatol, Videstim, Retinol-gel) - accelerate tissue regeneration, moisturize the skin and reduce the likelihood of inflammation.
Local treatment consists in taking starch, salt and herbal baths. To relieve inflammation, use decoctions with tansy flowers, medicinal chamomile and calendula. To eliminate the symptoms of ichthyosis, physiotherapeutic procedures are used - thalassotherapy, UV irradiation, mud therapy, heliotherapy.
The intake of fortified products is an integral part of the treatment of genodermatosis. For partial restoration of skin functions and acceleration of metabolic processes in it, water- and fat-soluble dietary supplements are taken. With ichthyosis, it is recommended to use drugs that contain retinol, pyridoxine, thiamine, tocopherol, ascorbic acid and cyanocobalamin.
Skin care and diet
The disease is often complicated by secondary infections that enter the body through cracks on the surface of the epidermis. Treatment of ichthyosis at home involves following certain rules for caring for dry skin. To prevent complications, you must:
- regularly use moisturizing ointments and body oils;
- treat damage with antiseptics;
- take baths with herbal decoctions, potassium permanganate;
- apply keratolytic ointments to the lesions;
- make applications with wound healing liniments.
Proper nutrition with ichthyosis has a beneficial effect on the condition of the skin and the well-being of patients. To restore the biochemical processes in the body, the diet includes foods high in vitamins:
- dried fruits;
- oatmeal;
- radish;
- tomatoes;
- garlic;
- sour cream;
- cottage cheese;
- seaweed;
- nuts;
- buckwheat;
- sea buckthorn;
- currant.
To prevent complications, it is advisable to exclude from the menu products that adversely affect the functioning of the gastrointestinal tract:
- confectionery;
- semi-finished products;
- carbonated drinks;
- alcohol;
- spicy food.
In the spring-autumn period, it is advisable to take dietary supplements that contain trace elements, vitamins of groups B, C and A.
How to cure ichthyosis forever
The genetic disease ichthyosis cannot be completely cured. So far, scientists have not developed etiotropic drugs that could eliminate mutations in genes. Skin treatment is carried out with symptomatic medications that reduce the severity of clinical manifestations. Ichthyosis is characterized by an undulating course, so at best a stable remission can be achieved.
To prevent exacerbation of genodermatosis, you should:
- increase the humidity in the room with humidifiers;
Ichthyosis is a hereditary skin disease. With it, diffuse violations of the keratinization process occur. In appearance, the skin looks like fish scales or shells. Ichthyosis is mainly manifested in children under 3 years of age.
The disease is transmitted in an autosomal dominant manner. Ichthyosis has 5 types of manifestations:
- appeared during fetal development;
- "colloidal child";
- vulgar;
- Broca's erythroderma;
- ichthyosiform erythroderma.
Congenital ichthyosis develops in an autosomal recessive manner. This means that if mom and dad are carriers of this disease, then in 25% of cases a child is born with this disease. The disease is severe. The newborn is covered with gray, dense formations. After a while, they acquire a bloody hue. The eyelids are turned inside out, and the mouth, nose and ears are filled with crusts. Heels and hands are deformed. The newborn dies within 2 weeks.
Ichthyosis of newborns by the manifestation of "colloidal child" is transmitted in an autosomal recessive manner. On the skin of the baby is a film of yellow or gray. It is quite dense, so it is difficult for the baby to move. The mouth and eyes are open, the eyelids are turned out, and the ears are twisted. After about 3 weeks, the film dries up. Scales begin to appear, which then peel off. Cracks that appear must be carefully treated, as they can get infected.
Ichthyosis vulgaris is passed from one parent to a child who is sick or becomes a carrier. Most patients suffer from cosmetic defects. There are small shallow peeling on the skin. The shin is covered with a large plastic crust.
Broca's erythroderma manifests itself from birth. It is expressed by redness and skin induration. If the disease proceeds in a mild form, then only the face, skin folds, and heels are covered with a crust. With a complex course, the child has difficulty moving, breathing and sucking are disturbed. If the disease is in a very severe form, then the child dies. In other cases, ichthyosis can last a lifetime. Hair falls out, sweating is disturbed, scales lighten.
Erythroderma manifests itself in the form of redness on the skin, later blisters appear, and the skin exfoliates. If the disease proceeds in a mild form, then there are few bubbles and everything goes away by 4 years. With a complex course, the entire body is covered with blisters. Warty layers often appear on the flexion region. The scales are dark in color and have an unpleasant odor. There is a separate form of the disease, when the rash is localized on the hands and feet.
Ichthyosis causes
The disease has 2 causes:
- inheritance in an autosomal dominant manner;
- autosomal recessive inheritance.
In the first case, the child inherits the disease if at least one of the parents has ichthyosis. In this case, a newborn can only be a carrier of the gene. In this case, the disease will be transmitted to children.
In the second case, both parents are sick with ichthyosis, or carriers of the gene. The risk of having a sick baby is 25%.
As you can see, skin ichthyosis appears due to a gene mutation. This disease is passed from parents to children. The biochemistry of gene mutation has not been fully deciphered. Violation of protein and fat metabolism leads to the development of the disease.
At the moment, other provoking factors of ichthyosis, except for gene mutation, have not been recorded.
Symptoms
The disease ichthyosis has a pronounced symptomatology. It is impossible to confuse it with another disease. But it should be noted that the prevalence of any manifestations depends on the form and severity of the disease. The main symptoms of ichthyosis:
- the skin becomes very dry;
- scales of white or gray colors are formed in different parts of the body, they look like fish scales;
- the formation of large, rough brown plates on the skin;
- in especially severe manifestations of the disease, scales appear in the mouth, nose and ears;
- in complex stages, a shell is formed throughout the body;
- sweating is disturbed;
- lines on the heels and palms are bright and as if circled;
- large bumps form on the skin;
- nail plates are reduced or absent altogether;
- there are cracks and delaminations on the nails;
- metabolic processes are disturbed;
- thyroid activity is reduced;
- there is a deficiency of humoral and cellular immunity;
- increase in body temperature;
- relapses.
Less common symptoms include:
- defects in the nervous system of the body;
- oligophrenia;
- paralysis;
- anemia;
- polyneuropathy.
Diagnostics
It is almost always sufficient to conduct an examination of the patient to make a diagnosis. The doctor studies the clinical manifestations of the disease and determines the form of ichthyosis. In a child in the first months of life, it is important to compare the disease with erythroderma.
Histological examination is mandatory. It is prescribed to clarify the diagnosis, determine the severity and form. According to the results of the diagnosis, the doctor makes a description.
Be sure to consult a geneticist. This doctor will be able to determine by what type the disease develops. Also during the diagnosis it is worth visiting an immunologist and a dermatologist.
Treatment of ichthyosis
The disease is treated in a hospital or at home - outpatient. It all depends on the form of the disease and its severity. Treatment consists of:
- the appointment of vitamins;
- the appointment of hormonal drugs;
- the introduction of immunoglobulins;
- constant lubrication of affected areas with oil
- taking various baths (depending on the location and severity of ichthyosis);
- the use of aromatic retinoids;
- lubrication with keratolic agents;
- UV irradiation and physiotherapy.
Be sure to take vitamins A, E, B, C in large doses and for long, frequent periods. Hormone therapy is prescribed for severe forms of the disease and frequent courses. If the eyelids are turned out, a retinol solution is dripped into the eyes. When the patient's condition returns to normal, the drugs are gradually canceled. In the case when a newborn suffers from ichthyosis, a nursing mother should also take all the vitamins that are prescribed to the child.
Immunoglobulins are needed to strengthen the immune system. It is usually used by injection courses.
Some preparations containing vitamin U and lipoid soften scales. They must be applied after a bath with a solution of potassium permanganate. If an adult is sick, then urea, sodium chloride and vitamin A are additionally added to the liquid. Retinoids are excellent for restoring cell function and normalizing metabolism. They have gained great popularity in the treatment and prevention of recurrence of the disease.
Ultraviolet irradiation of the affected areas, carbon dioxide baths help to improve metabolism. After each procedure, it is recommended to lubricate the affected areas with cream or oil.
Complications
If the form of the disease is severe, then the patient dies. This is due to the fact that all metabolic processes are disturbed. In addition, often some kind of infection joins the disease and the person suffers from it as a result. Purulent inflammations arise and spread throughout the body. Respiratory dysfunction also leads to various difficulties.
It is worth noting that in most cases the disease does not go away without a trace. Organs or the body as a whole are affected. If the course of the disease is mild, then the patient can expect to recover without consequences. Ichthyosis must be treated. If the disease is allowed to take its course, then the person will die.
Prevention
Since ichthyosis is a genetic disease, there are no methods to prevent it. The disease is inherited, so it is impossible to prevent the appearance of ichthyosis in a child. The only thing that can be done is to seek advice from a geneticist. This will determine whether there is a carrier of the diseased gene in the pair. If the risk of having a sick child is high, then it is recommended not to become pregnant, but to adopt orphans.
In the event that the disease is detected in the fetus during the perinatal period, doctors recommend terminating the pregnancy.
For patients with ichthyosis who have successfully completed treatment, preventive measures are recommended to prevent relapse. These include:
- constant vitamin therapy;
- use of moisturizing creams containing vitamin A, E;
- Spa treatment;
- lubrication with silt and peat mud of the affected areas of the skin.
Symptoms of ichthyosis
Most often, all of the above types are regarded as ichthyosis vulgaris in varying degrees of severity. During puberty, the symptoms of ichthyosis weaken, later resume. The disease lasts a lifetime, without passing from one form to another, as a rule, exacerbations occur in the cold season.
Harlequin fruit or ichthyosis fetus one of the congenital forms of the disease, development occurs in the embryonic period. The clinical picture of the disease is fully formed before the birth of the child.
Symptoms of fetal ichthyosis in newborns are in the complete defeat of the skin. The skin is dry, thickened, the horny shell covering the skin consists of horny shields that have a gray-black color. The palms and soles are also affected diffuse keratoderma . The auricles, mouth and nose are deformed, the limbs are ugly, the eyelids are usually twisted. Other concomitant fetal malformations may be observed. Most of the children with ichthyosis of the fetus are born already dead. But even those born alive die after birth, surviving children with such defects are few.
There are also several forms of ichthyosis, which are extremely rare. Ichthyosis unilateral characterized by unilateral localization of pathological changes. Half of the face, trunk and limbs are affected on the right or left side. According to clinical signs, this form is distinguished as one of the variants of ichthyosiform erythroderma. Ichthyosis spiny - is very rare. At birth, it manifests a pronounced erythema . which later weakens, and linear areas with verrucous horny layers are formed. Keratinization and diffuse peeling resemble hedgehog needles.
Diagnosis of ichthyosis
The primary diagnosis is made on the basis of the clinical picture of the disease. And to clarify the diagnosis, further studies are prescribed.
Thus, during diagnostics, for example, keratinocide transglutaminase deficiency which is typical for lamellar ichthyosis . There is an accelerated advancement of keratinocides to the surface of the skin. X-linked ichthyosis is diagnosed in the presence of strengthening of cell bonds - retention hyperkeratosis . An increase in water loss through the skin is also characteristic. Disturbances in the differentiation of keratinocides and the production of defective keratin provoke the formation of blisters and thickening of the skin, which diagnoses epidermolytic ichthyosis .
Complications of ichthyosis
With age, the course of the disease becomes easier, unlike other diseases that only get worse, leading to complications. Complications of ichthyosis most often lie in concomitant diseases or congenital malformations. Often there is a complication such as atopy – increased allergic sensitivity . There is also a lack of function of the endocrine system and immunodeficiency states ( immunodeficiencies ).
Treatment of ichthyosis
In the treatment of ichthyosis, complex therapy is used, mainly the treatment of ichthyosis is symptomatic. The main tool in general therapy vitamin A in combination with general strengthening agents. High content drugs vitamin A . as well as its analogues - retinoids . scheduled several times a year. Reception of such preparations is recommended by 2-3 monthly courses. It is recommended to constantly monitor when taking retinoids, for timely discontinuation of drugs in case of their toxic effects on the body.
Ichthyosis- a heterogeneous group of genetic diseases of keratinization with widespread skin lesions. The main forms are ichthyoses and ichthyosiform erythroderma.
Ichthyosis: heredity
Ichthyosis is common and linked to the X chromosome. Mutations in keratin genes have been found in congenital bullous ichthyosiform erythroderma.
Common ichthyosis ( ichthyosis vulgaris)- the most common group of hereditary diseases of cornification. It is inherited in an autosomal dominant manner.
The frequency of ichthyosis is 1:3000-1:4500 of the population.
Ichthyosis: age and gender characteristics
With ichthyosis, both sexes are affected equally often. The disease usually develops at the age of 1 year. It is characterized by dryness, peeling of the skin, most pronounced on the extensor surface of the limbs, follicular hyperkeratosis, lesions of the palms and soles - an underlined pattern and increased folding.
The condition of the skin improves with age, in the summer and with high humidity, worsens in cold, dry weather.
X-linked ichthyosis inherited recessively, occurs more rarely than usual, with a frequency of 1:6000 boys.
Unlike normal ichthyosis, X-linked ichthyosis can exist from birth. The full clinical picture is observed only in boys. The scales are larger than with ordinary ichthyosis, brownish in color. The lesion is more extensive, the process may involve skin folds, neck, rear of the foot, flexion surfaces of the limbs, to a lesser extent the back, and the scalp. More intensively than with ordinary ichthyosis, the stomach is affected. The skin of the palms and soles is not affected, there is no follicular hyperkeratosis. Often observed clouding of the cornea, hypogonadism, cryptorchidism. Clouding of the cornea can be in women - carriers of the gene, but less often than in patients; in heterozygotes, slight peeling on the limbs is possible. There may be various malformations (microcephaly, pyloric stenosis, skeletal anomalies), mental retardation. Perhaps a combination with Kallmann's syndrome.
The clinical difference between ichthyosiform erythroderma and ordinary ichthyosis is the existence from birth, inflammation. In the bullous form, blisters occur, especially in newborns and during early childhood. Folds, appendages of the skin are affected, with lamellar ichthyosis, ectropion is pronounced.
Ichthyosis: symptoms and signs
The development of ordinary ichthyosis is associated with a violation of the synthesis of keratohyalin.
Non-bullous ichthyosiform erythroderma, inherited autosomal recessively, is manifested primarily by erythroderma. Abundant peeling is noted, the scales are small, silvery in color.
Lamellar ichthyosis ( ichthyosis lamellosa) inherited in an autosomal recessive manner. It differs from non-bullous ichthyosiform erythroderma by less pronounced inflammation, large and sometimes scales, pronounced ectropion, and unchanged content of alkanes.
With bullous ichthyosiform erythroderma. inherited autosomal dominantly there are massive layers of horny masses with the location of the horny combs concentrically on the extensor surface of the joints, blisters.
There are a number of syndromes, including skin changes similar to those observed in ichthyosiform erythroderma:
Sjögren-Larssen syndrome - a combination of hyperkeratotic skin changes, often of the type of non-bullous ichthyosiform erythroderma, mental retardation, spastic paralysis, pigmentary retinal degeneration, epilepsy, bone anomalies; inherited autosomal recessively;
KID syndrome - a combination of ichthyosiform changes, keratoderma of the palms and soles, deafness, keratitis, hypotrichosis, hypohidrosis, nail dystrophy;
HILD syndrome - congenital hemidysplasia, bone defects and other ipsilateral anomalies (systematized hypotrichosis, fusion of the vertebrae, the absence of half of the vertebrae, pelvic hypoplasia, renal akinesia); inherited, probably X-linked dominantly (only girls get sick, the fetuses die about the sex); trichothiodystrophy (BIDS-syndrome, Tau-syndrome) - trichoshisis, trichorrhexis nodosum, dementia, short stature, in some cases increased photosensitivity; Conradi-Hünermann syndrome - X-linked dominant inheritance with death of male fetuses, skin changes such as ichthyosiform dry erythroderma or, less commonly, similar to ordinary ichthyosis (the so-called X-linked dominant ichthyosis), punctate (follicular) atrophoderma at the site of resolved (usually by the end of the 1st year of life) hyperkeratotic changes, congenital cataract; calcification of the epiphyses of tubular bones and vertebrae, skeletal deformities, cicatricial alopecia; Netherton's syndrome - hair anomalies in the form of natural thickening along the length of the hair due to invagination, signs of atopy, aminoaciduria, skin symptoms such as atopic dermatitis, non-bullous osiform erythroderma, psoriasis (one of the names is psoriasiform ichthyosis), ichthyosis linear envelope of Komel. Girls get sick more often.
Ichthyosis: diagnosis
Diagnosis of ichthyosis is based primarily on clinical data. With ordinary ichthyosis, histological examination matters (absence or thinning of the granular layer); with X-linked ichthyosis - reduced activity of steroid sulfatase; with congenital bullous ichthyosiform erythroderma - detection of a picture of epidermolytic hyperkeratosis during histological examination; with Netherton's syndrome - microscopic examination of trichorrhexis invaginata; with trichothiodystrophy - the detection of alternating light and dark stripes on the hair shaft when examined under a polarizing microscope; with Konradi-Hünermann syndrome - punctate calcification of the epiphyses of tubular bones, the spine during x-ray examination.
Differential diagnosis of ichthyosis is carried out with psoriasis. seborrheic dermatitis. senile and other forms of xeroderma.
Ichthyosis: treatment
With ichthyosis, vitamin A is prescribed at a dose of 100,000 IU / day, with good tolerance up to 200,000-300,000 IU / day in 2 doses in courses of 2-3 months 2-3 times a year, Aevit.
With dry ichthyosiform erythroderma and lamellar ichthyosis vitamin A is prescribed at 10,000 IU / (day kg), tigazon at a dose of 1 mg / kg, with a bullous form - 0.3-0.5 mg / kg; keratolytic agents (1-2% salicylic ointment, 5-10% urea ointment), warm baths with the addition of 0.5 liters of milk and 2-3 tablespoons of olive oil, salt (1%).
Ichthyosis: disease prognosis
The prognosis depends on the form of keratosis, the most favorable for ordinary ichthyosis, the least for lamellar.
Means for the treatment of ichthyosis
Is ichthyosis hereditary?
Krasnoyarsk, 44 years old
Traditionally, the moped is not mine - a good friend asks the question.
The fact is that her husband is diagnosed with ichthyosis (mild), but they really want a child. Both are very worried about heredity, they don’t want the child to be sick too. A friend heard that ichthyosis is inherited.
Swamp mouse, doctors recommend attending a genetic consultation in cases where there are people sick with hereditary diseases in relatives, if the pregnant woman has been ill with influenza, rubella, etc. at an early stage. if the patient's age is more than 30 years.
The consultation begins, of course, with a conversation. The doctor will study the pedigrees of the spouses, may need a medical card of a sick relative with a medical history or autopsy results. If the information is not enough, the doctor may prescribe a medical examination of a patient from the family of one of the spouses.
If necessary, a cytogenetic study (blood samples) is prescribed to determine the number and quality of chromosomes in spouses. At the same time, genetic disorders are identified that can affect the health of the unborn child.
If a woman is already pregnant, then a number of tests are performed at different stages of pregnancy: ultrasound at 10-12 weeks (determining the thickness of the neck fold) and 20 weeks, a mother’s blood test using special markers at 16-18 weeks and, in extreme cases, amneocytosis (blood is taken from the umbilical vein).
Unfortunately, the first two methods (ultrasound and blood test) do not have 100% accuracy, therefore, the disease can be accurately determined only with the help of amneocytosis, which increases the likelihood of miscarriage.
After the studies, the doctor makes calculations on the risk of the appearance of a sick child and announces it at the next consultation. If the risk is more than 20%, then the spouses are advised to think carefully about whether it is worth having a child. If the risk is unreasonably high, then, probably, there are no options other than the method of preimplantation diagnosis.
Ichthyosis - a skin disease, which is characterized by a violation of the keratinization of the skin. Belongs to a group hereditary dermatological diseases . The etiology of ichthyosis has not been fully studied, it is only known that the disease is caused by biochemical defect of a group of mutant genes . At the same time, several clinical forms of the disease differ depending on the group of mutated genes.
Ichthyosis is accompanied by insufficiency vitamin A . hypofunction of the gonads . thyroid glands . The pathological process of ichthyosis resembles psoriasis . but more aggravated. The development of hyperkeratosis in ichthyosis leads to the appearance of scales similar to fish scales on the skin, which determines the name of the disease.
According to the degree of skin damage - keratinization, in dermatology there are about 28 different forms of ichthyosis, as well as several rare syndromes. in which ichthyosis acts as a symptom. He is a symptom Rude's syndromes . Sjögren-Larson . Refsum and etc. There are different expressions hyperkeratosis from mild skin roughness to severe pathological changes, often incompatible with life.
Since all major forms of the disease have hereditary genesis . they are divided into two groups autosomal dominant type inheritance and recessive type – X-linked ichthyosis . Depending on the group of the disease, clinical manifestations, the complexity of the course, and the prognosis of the disease differ. The first group occurs equally often in both men and women, and the second only in men, which is due to the type of mutant genes.
Among all forms of ichthyosis, 80-95% is occupied by ichthyosis according to the autosomal dominant type of heredity. The most common form is ichthyosis vulgaris . which is actually divided into several types.
Symptoms of ichthyosis are characterized by diffuse lesions of the skin of the trunk and extremities, which have varying degrees of severity. There are layers of scales of different colors and shapes, the skin becomes rough, dry. The scales have a color from whitish almost transparent to gray-black. The greatest severity of lesions in the places of extension of the limbs is the area of the knees and elbows. In this case, the neck and the bending surfaces of the elbows and knees are not affected.
Also in the clinical picture of the development of ichthyosis is follicular keratosis . Small dry nodules form at the mouth of the hair follicles, the hair becomes thinner, sparse, brittle. The skin of the face is most often affected in adults, there is peeling of the cheeks and forehead. The palms and soles have a pronounced skin pattern, flour-like peeling is strongly pronounced.
According to clinical signs, ichthyosis vulgaris is divided into several types. Xeroderma - characterized by a mild course, characterized by dryness and slight roughness of the skin, mainly on the extensor surface of the limbs. A simple form of ichthyosis - changes in the skin covers the entire trunk, limbs and scalp.
The symptoms of simple ichthyosis are small scales that are attached to the base with a central part. Ichthyosis is also distinguished: White (scales are white, floury); brilliant (scales transparent in the form of a mosaic are localized on the limbs); serpentine (large greyish-brown scales arranged like a snake cover).
Histological diagnosis of ichthyosis vulgaris also reveals recessive type of ichthyosis . In the course of genetic studies, this group of ichthyosis was isolated from the previously identified ichthyosis vulgaris. In full, the disease manifests itself only in boys.
Ichthyosis recessive X-linked is characterized by a congenital lesion, most often the development of the disease occurs at 4-5 months of fetal development, while ichthyosis vulgaris manifests itself after the first year of a child's life. X-linked ichthyosis is also divided into several forms, which differ in severity and characteristic clinical manifestations.
Ichthyosis epidermyologica - a congenital form of the disease, manifests itself immediately after birth. The characteristic symptoms of ichthyosis are expressed as " colloidal fruit "- the fetus is covered with a film, after rejection, which the child's skin looks like scalded. There is a bright red color of the skin, extensive areas of the epidermis exfoliate, erosion and blisters form. The keratinization of the skin occurs at 3-4 years of age, while the horny layers in the form of scallops have a concentric arrangement, the layers are thick, brown. "Colloidal fetus" is also observed in other forms of ichthyosis - lamellar ichthyosis . dry ichthyosiform erythroderma .
Since such a form of the disease as acquired ichthyosis . which, in fact, is only an ichthyosiform condition provoked by other diseases, the diagnosis of hereditary type ichthyosis is carried out at the level of studying genes, tissue cells. Most forms of ichthyosis are based on gene expression disorder . which encode forms keratin . Therefore, various violations lead to different forms of the disease.
X-linked ichthyosis in its development may be accompanied by underdevelopment and pathologies of the genital organs . There is such a complication as hypogonadism . genital organs and secondary sexual characteristics do not develop due to a decrease in the secretion of sex hormones. Often there are congenital pathologies such as cryptorchidism or monorchism . the absence of one, and sometimes both testicles in the scrotum.
Treatment of ichthyosis requires moisturizing the keratinized areas of the epidermis, the loss of water through the skin is very significant and constant restoration of water balance is necessary. For this, frequent baths are prescribed, they can be salt, soda, starch, sulfide and others. The use of therapeutic silt and peat mud is also recommended.
Of the external medications are prescribed keratolytic agents with content glycerine . propylene glycol and lactic acid . These drugs are used without dressings. With an occlusive dressing, it is recommended to use preparations containing salicylic acid . as well as urea .
In addition to medications, a number of physiotherapeutic procedures are prescribed: heliotherapy . thalassotherapy . rePUVA therapy . UV rays .
Skin ichthyosis
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 diffuse changes in the skin are noted, 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.
Gene mutation of ichthyosis-like diseases
Ichthyosis of the skin is a chronic disease that 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:
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.
Ichthyosis in newborns
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 is 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, and bronchial asthma. As the child grows older, the disease can worsen, manifested by periods of remission and exacerbation.
Symptoms of ichthyosis in children
Recessive ichthyosis - diagnosed in newborns from the first days of life, but mostly 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 baby'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 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
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 is 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 is a rare form of the disease that occurs in people over 20 years of age. 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.
skin with ichthyosis
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:
Diagnostic methods for ichthyosis
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:
In severe forms of skin ichthyosis or with a congenital form of the disease, the doctor prescribes hormone therapy. If such treatment gives a 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.
Vitamin therapy in the treatment of skin ichthyosis
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.
Moisturizing cream for the treatment of ichthyosis
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, proper and timely treatment can reduce 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.
Pregnancy planning
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.
Inherited ichthyosis - combines a wide group of skin diseases that affect mainly keratinized skin.
Reasons for the development of ichthyosis
The causative agent and the conditions for the development of this disease cannot be identified today, doctors only know that the basis of this disease are violations in the structure of human genes that determine the shape and content of keratins. The main varieties of ichthyosis are the lamellar form of the disease, in which the amount of transglutaminase elements of keratin and proliferative hyperkeratosis decreases, and there is also an ichthyosis of the X-shaped form of the disease, which provokes a sharp deficiency of sterol sulfatase elements.
Symptoms of ichthyosis
On the human skin, traces of exfoliation of the upper layer appear, which resemble the shape of fish scales. This violation of the structure of the skin can have a different degree of threat to health and even human life. Ichthyosis can be manifested by a barely noticeable exfoliation of the upper layer of the skin, and there are varieties of ichthyosis, which leaves very deep wounds on the human body, which are sometimes incompatible with life. Often, along with the development of ichthyosis, the human body falls under the influence of a number of diseases associated with this disease.
Ichthyosis of the usual form
This type of ichthyosis is the most common variant of this disease. This disease mainly affects children of preschool age, in the period from 1 to 2 years. Scientists have noted the fact that not a single case of illness in children under 3 months of age is known, which is explained by the flow of metabolic processes in the skin system of babies, which take place only in the first months of human life.
Congenital ichthyosis
This form of ichthyosis combines the manifestations of a congenital type of disease and erythroderma. The disease develops as a result of damage to the functional system of the skin, which is responsible for the level of keratinization of the human skin. The disease is transmitted through the hereditary line, autosomal recessive type. A child can inherit this disease if both parents are a carrier of the disease, and then not in all cases, which is associated with the peculiarities of the change in this gene.
As a rule, the disease can manifest itself in several main forms - this is ichthyosis of mild and severe types. The first symptoms of the disease appear even during the prenatal life of the child, but it is not possible to diagnose the onset of the disease during the normal development of the fetus.
Ichthyosis with tinea pilaris
This form of ichthyosis is a hereditary type of disease. The disease has very minor manifestations, quickly manifests itself and is effectively eliminated. The disease belongs to the so-called abortive ailments. In most cases, the disease occurs in children older than the age category.
The disease begins to manifest itself during a person's puberty. Both girls and boys suffer from the disease. The focus of the concentration of lichen is the area of \u200b\u200bthe arms (in the area of \u200b\u200bthe elbow joint), back, hips and buttocks. The manifestation of the disease is small, pointed nodules on the skin, which are fatly located on the skin, forming an interconnected structure. Lichen 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 responds well to treatment and prevention, but many forms of congenital ichthyosis are very difficult to eliminate.
In the treatment of 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
To date, it is impossible to eliminate the causes of the development of the disease. Parents planning the birth of a child can only prevent the development of pathologies and serious symptoms in their child associated with the action of the ichthyosis pathogen. Parents of future children can visit one of the numerous centers in our country where research is being carried out on the processes of change in human genome chains and get expert advice on the possibility of giving birth to absolutely healthy children.
Remember that the care and responsibility for the birth of happy and healthy children lies only with the parents. Decisions about expanding your family with a child should be considered and fully weighed.
Melanie Bradley suffers from a terrible disease throughout her life - ichthyosis. “My skin flakes off so fast that I can lose as much skin overnight as the average person would in two weeks. I am covered in dead skin scales from head to toe. The layer of skin can be so thick that I can hardly move. At the same time, my skin is so vulnerable that the slightest blow can cause it to break. Sometimes I feel embarrassed because I leave skin marks behind me. In my house, the vacuum cleaner works almost around the clock,” Melanie says about her illness.
Bradley was born with this terrible disease and suffered from it since childhood. At the age of three, the child's knees did not bend due to the super-thick layer of skin. The girl was forced to go to school in slippers, any other shoes brought her incredible suffering.
What does modern science know about Melanie's rare disease? Wikipedia, for example, defines ichthyosis as a group of hereditary diseases that are expressed in violation of the processes of keratinization of the skin. The main symptom of ichthyosis is dry, rough, scaly skin that looks like the skin of a lizard. Many ichthyosis sufferers suffer all their lives, they suffer greatly from their unusually thick skin.
40 types of this disease have been identified, science has divided them into four main types. However, regardless of the classification of a particular clinical case, the technical reason for this is that the microscopic cells of the dividing epidermis cannot separate from each other in a timely manner. The cells seem to stick together and form as a result a thick constantly flaky surface of the skin, which subsequently discolors and begins to crack.
In addition, other vital functions of the body are significantly affected. The thermoregulation and water balance of the human body is disturbed. Children can have serious deviations in growth and development. Babies born with the most severe forms of the disease die in the first days after birth from infections and dehydration.
Other types of ichthyosis cause developmental delay, including mental retardation. Immunodeficiency, deafness, baldness, bone deformity, a sharp decrease in visual acuity are possible. Infected skin becomes covered in itchy blisters. As a result of physical deformity, most patients with ichthyosis have serious psychological problems.
Scientists still do not know the real causes of the disease and do not have any effective methods of its treatment. In the diagnosis of ichthyosis, symptomatic treatment is prescribed. This means that the medicines prescribed by the doctor do not fight the cause of the disease, but only to some extent alleviate the suffering of the patient.
The cause of the disease are genetic abnormalities of unknown origin. However, there is a clear connection between the occurrence of a disease in a child and the presence in the family of relatives suffering from the same disease. Ichthyosis is transmitted exclusively by inheritance along with the affected genes of the ancestors. Moreover, the probability of having a sick child, if only one of the parents is sick, is 50%. In the presence of two parents with these diseases, it increases many times over. If there is frequent cross-fertilization of people from affected families, which usually occurs in fairly isolated groups, then the accumulation of damaged genes occurs and the incidence of offspring tends to 100%.
Students O. Pyankina and G. Borisova studied the relationship between the frequency of birth of children with this disease and the number of their relatives with the same disease based on the medical records of thirty patients with ichthyosis residents of the village of Balyktyyul in Altai. The conclusions are dire: the likelihood of transmitting the disease to a child in the presence of several sick relatives not only increases rapidly. When a certain threshold is crossed, the gene responsible for the transmission of the disease becomes dominant.
In the village of Balyktyyul, due to the crossing of the affected genes of the parents in the offspring, the frequency of birth of children affected by ichthyosis is 24 people per thousand of the population. This is 80 times higher than the national average. In Russia as a whole, the incidence of the disease is 0.3 patients per thousand people. “Obviously, the frequency of the ichthyosis gene will increase, provided that the carriers of this disease will have an equal opportunity to leave descendants,” the researchers draw a disappointing conclusion.
Let's get back to Melanie Bradley. The woman has two children. Son Daniel was born healthy, but his sister Rebecca was unlucky, the unfortunate child has been tormented since birth. At the same time, doctors warned Bradley that the probability of having a sick child is 50%, and yet, with a probability of such an event of 20%, geneticists suggest that parents seriously think about the need to reproduce offspring. The probability of the birth of patients among the descendants of Bradley's son cannot be calculated by modern scientific methods.
“Being sick is not a shame. It’s a shame to produce offspring if the parents are sick,” said one very famous person. Later, by the court of history, he was recognized as the greatest criminal in the history of mankind. And, nevertheless, there is a sound grain in these arguments, I think.
Loading...