Vulgar ichthyosis ICD 10. Congenital ichthyosis. Diagnostic criteria for diagnosis

Ordinary or vulgar ichthyosis appears before the age of three years, but it is usually diagnosed before the third month of life. This is the most common form of ichthyosis, inherited in an autosomal dominant manner. First, the skin becomes dry and rough, then becomes covered with small whitish or gray-black scales tightly adjacent to each other. With ichthyosis, the area of ​​the elbows, popliteal fossae, armpits and groin area are not affected.
Mucoid peeling appears on the palms, and the skin pattern becomes pronounced. The severity of ichthyosis depends on how deep the gene mutation is; an abortive course is possible, when the only manifestation of ichthyosis is dryness and slight flaking of the skin on the extensor surfaces.
With ichthyosis, hair, teeth and nails undergo dystrophic changes. Dry, brittle hair is typical, nails break off and split, and multiple caries develops. Quite often, ichthyosis is accompanied by eye damage - chronic conjunctivitis and retinitis. Patients with ichthyosis have a hereditary predisposition to myopia, which begins to manifest itself in childhood. Since immunity is reduced, allergic diseases and purulent infections are permanent. Later, disturbances in the functioning of internal organs occur, most often cardiovascular failure and liver disease.
Recessive ichthyosis occurs only in males, although it is inherited on the X chromosome and differs in that the cause of the disease is a defect in placental enzymes. Clinical manifestations appear in the second week of life, less often immediately after birth. The horny layers of the skin look like large dense scales of black-brown color and resemble scutes. The skin between the scales is covered with cracks, so it looks like the skin of a crocodile or snake. Children with recessive ichthyosis often have mental retardation, abnormalities in the skeletal structure, and epilepsy. Juvenile cataracts and hypogonadism occur in 10-12% of cases.
Congenital ichthyosis develops in utero at 4-5 months of pregnancy. At birth, the baby's skin is covered with thick horny scutes of gray-black color. With congenital ichthyosis, the scales can reach up to 1 cm in thickness, the scales have different shapes, smooth or jagged, the skin between them is covered with grooves and cracks. Due to the dense, well-cohesive scales, the baby's mouth is either stretched or sharply narrowed so that the feeding tube barely fits. The ear openings are deformed and filled with horny scales, the eyelids are everted due to stretching. Almost all infants have skeletal anomalies - clubfoot, clubhandedness; many children with the congenital form of ichthyosis have interdigital bridges on the feet and palms, and sometimes missing nails. Pregnancy is often premature, and the rate of stillbirth is quite high. Since there are anomalies incompatible with life, most children with the congenital form of ichthyosis die in the first days of life.
Epidermolytic ichthyosis is a form of congenital ichthyosis. The baby's skin is bright red, as if scalded by boiling water. Nikolsky syndrome is positive, as in neonatal pemphigus - with a slight touch, rejection of the epidermal scales is observed. The skin on the palms and soles is white and significantly thickened. In some cases, with the epidermolytic form of ichthyosis, there may be hemorrhages in the skin and mucous membranes. This is an unfavorable sign; if hemorrhages occur, children most often die. With milder clinical manifestations of ichthyosis, the blisters become smaller over time, but throughout life the disease recurs in the form of outbreaks, and during a relapse of ichthyosis the temperature often rises to high levels. By the fourth year of life, horny layers appear in certain areas of the body in the form of thick dirty gray scales, which are localized mainly in places of natural skin folds.
There are often defects in the nervous, endocrine and other body systems; many children with congenital ichthyosis are later diagnosed with mental retardation and spastic paralysis, which is caused by the accumulation of phytanic acid in the tissues. Polyneuropathy, anemia, and infantilism complicate the course of ichthyosis. The mortality rate is very high due to associated complications and associated diseases.

X-linked ichthyosis affects only men. Shortly after birth, large, dark brown, mud-like scales appear on the neck, limbs, torso, and buttocks.

The name of this disease means “fish” in Greek. Indeed, the patient’s skin is covered with gray horny formations that resemble fish scales. Since the affected skin areas lack sweat and sebaceous glands, over time they begin to resemble dry snake skin.

Xerosis, also known as xeroderma, is a symptom, the main signs of which are severe dryness of the skin, its roughness, and sometimes the presence of pityriasis-like scales on the skin.

The main reason for dry skin lies in the disruption of the sebaceous glands (hypofunction). The lack or absence of production of sebum (fat), which is actually the protective layer of the skin from the aggressive external environment, and also which maintains the water balance of the skin, leads to dry skin and its vulnerability to various infections.

If there is a lack of sebum in the required amount, the skin not only dries out, it also tightens, peels, and wrinkles.

It has been noticed that if a person has dry and very dry skin, wrinkles appear much earlier, when other signs of aging are not even visible. Of course, not the last factor that leads to premature skin wrinkles is sun rays, which additionally dry out the skin.

Xerosis - ICD

ICD-10: L85.3.

1.2 Etiology and pathogenesis

Ichthyosis vulgaris (syn.: vulgar autosomal dominant ichthyosis, ordinary ichthyosis) is characterized by an autosomal dominant mode of inheritance, with incomplete penetrance and variable expressivity.

The main genetically determined defect is a violation of the expression of the protein of keratohyalin granules profilaggrin. Gene polymorphism was discovered on chromosome 1q22.

Mutations in the profilaggrin gene (R501X and 2282del4) were identified. The possibility that several genes are involved, one of which affects profilaggrin expression, cannot be ruled out.

Filaggrin deficiency leads to a decrease in the content of free amino acids in the stratum corneum of the epidermis, which are capable of retaining water, which causes increased dryness of the skin of patients with ichthyosis vulgaris.

X-linked ichthyosis (syn.: X-linked ichthyosis, blackening ichthyosis) is characterized by a recessive, X-linked type of inheritance.

Genetic defect – mutations in the steroid sulfatase gene, with a locus at Xp22.32. Deficiency of this enzyme leads to the deposition of excess cholesterol sulfate in the epidermis, increased adhesion of horny scales and retention hyperkeratosis.

Lamellar ichthyosis (syn.: lamellar ichthyosis, collodion child, dry ichthyosiform erythroderma) can be inherited either autosomal recessively or autosomal dominantly. In some cases, mutations of the gene encoding the enzyme transglutaminase of keratinocytes (chromosome 14q11) are detected, which leads to a defect in the cells of the stratum corneum structure.

Congenital bullous ichthyosiform erythroderma (syn.: Broca's erythroderma, ichthyosiform epidermolytic hyperkeratosis) - an autosomal dominant type of inheritance can be traced in approximately half of the cases. In other cases, the pedigrees contain only one proband. Linkage to 12q11-13 and 17q12-q21 was detected (mutations in the keratin genes KRT1 and KRT10).

Fetal ichthyosis (syn.: “Harlequin fetus”, congenital keratosis, intrauterine ichthyosis, universal congenital hyperkeratosis) is characterized by an autosomal recessive type of inheritance with full gene penetrance, expressivity - from moderate severity to severe clinical manifestations.

Other congenital ichthyosis (congenital non-bullous ichthyosiform erythroderma) - this group includes a number of syndromes that include ichthyosis as one of the symptoms: Netherton syndrome, Rood syndrome, Sjögren-Larsson syndrome, Young-Vogel syndrome, linear circumflex ichthyosis of Komel.

Ichthyosis vulgaris is an autosomal dominant dermatosis, with incomplete penetrance and variable expressivity. The main defect is a genetically determined disorder in the expression of profilaggrin, a protein of keratohyaline granules.

A problem area with a locus on chromosome 1q22 was discovered. Mutations in the profilaggrin gene (R501X and 2282del4) were identified.

It is likely that several genes are involved, one of which affects profilaggrin expression. Mutations of the filaggrin gene increase the risk of atopic diseases.

Filaggrin deficiency causes a decrease in the content of free amino acids in the stratum corneum of the epidermis, whose function is to retain water, and as a result, increased dryness of the skin of patients with vulgar ichthyosis.

X-linked ichthyosis is a recessive disease linked to the X chromosome. The main genetic defect is mutations in the steroid sulfatase gene, with the locus at Xp22.32. A decrease in steroid sulfatase leads to the deposition of excess cholesterol sulfate in the epidermis and retention hyperkeratosis as a result of increased adhesion of horny scales.

Autosomal recessive congenital ichthyoses - common to congenital ichthyoses inherited by an autosomal recessive trait is erythroderma, which manifests itself from birth. Despite the different genotypes, this group of ichthyoses is united under the name “lamellar ichthyoses”.

A group of phenotypically similar diseases is based on different genotypes. In all cases, defective genes are involved in ensuring the integrity of the epidermal barrier.

The most common mutations are in the gene that encodes the enzyme keratinocyte transglutaminase (chromosome 14q11), which, in turn, leads to structural damage to the cells of the stratum corneum. The second most common mutation affects the transmembrane protein gene, which is involved in lipid transport in lamellar bodies.

The remaining defective genes that occur in autosomal recessive congenital ichthyoses encode various transport proteins and enzymes that synthesize the lipid components of the stratum corneum.

Nonbullous congenital ichthyosiform erythroderma is a disease with a predominant autosomal recessive mode of inheritance. Linkages with loci 14q11.2 and 17p13.1 (mutations of various lipoxyginase genes (arachidonate-12-lipoxygenase, arachidonate-lipoxygenase 3) have been identified).

Lamellar (lamellar) ichthyosis - half of the patients have a mutation in the transglutaminase 1 gene (14q11.2); The type of inheritance is mostly autosomal recessive, but an autosomal dominant type of inheritance is also possible.

Bullous (epidermolytic; keratinopathic) ichthyoses

Bullous ichthyosis includes congenital bullous ichthyosiform erythroderma, Curt-McLean spiny ichthyosis and bullous ichthyosis of the Siemens type.

Common to all bullous ichthyoses is mutation of the keratin genes, which causes vacuolar degeneration of the granular and upper spinous layers of the epidermis, resulting in the formation of superficial blisters.

It is characteristic that the lamellar bodies cannot release their lipids into the intercellular space. As the thickness of the epidermis increases, the tendency to form blisters decreases.

Curt-McLean ichthyosis is a “true spiny ichthyosis” associated with a mutation in the keratin 1 gene. Like congenital bullous ichthyosiform erythroderma, Curt-McLean ichthyosis is inherited in an autosomal dominant manner. However, its difference is in the clinical absence of erosions; histologically, epidermolysis is not detected.

Bullous ichthyosis of the Siemens type (exfoliative ichthyosis) of all ichthyoses inherited in an autosomal dominant manner, ichthyosis of the Siemens type is the mildest. It is associated with the keratin 2e mutation. In this form, there are no palmoplantar keratoses, and hyperkeratosis is mildly expressed in other areas of the skin.

Harlequin ichthyosis (fetal ichthyosis) is characterized by an autosomal recessive mode of inheritance with full gene penetrance. A mutation was discovered in a gene important for lipid transport, ABCA12, which is encoded on chromosome 2q34. Expressiveness from severe to moderate severity of clinical manifestations.

Congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis, Broca's disease) is inherited in an autosomal dominant manner. In other cases, the pedigrees contain only one proband. Linkage to loci 12q11-13 and 17q12-q21 (mutations of the keratin genes K1 and K10) was identified.

Peeling skin syndrome (peeling syndrome) The disease is inherited in an autosomal recessive manner. The acral forms are based on a mutation in the transglutaminase-5 gene (TGM-5 on chromosome 15q15.2), and the generalized form is based on a mutation in the corneodesmosin gene (CD5N on chromosome 6p21.3).

Causes

This disease is hereditary, but the mechanism of occurrence of gene mutations is not yet clear to scientists.

Xerosis can have two main etiologies - congenital (atopic xerosis) or acquired.

If we talk about xerosis, which manifests itself in infants during the first months of life, then it can be a symptom of a mild form of ichthyosis. If we talk about acquired xerosis of the skin, then various unfavorable factors (reasons) can contribute to this.

Of course, by the cause of xerosis it is fair to designate the cause of hypofunction of the sebaceous glands, which leads to insufficient production of sebum by them, which is manifested by dry skin. Let's look at them.

Causes of xerosis (dry skin):

• Features of the skin – thin skin;
• deficiency of vitamins in the body (hypovitaminosis), especially vitamin A;
• exposure of the skin to direct sunlight (ultraviolet radiation), incl. visiting a solarium, as well as cold, wind, rain, snow, frost;
• frequent bathing in hot water, daily hot showers;
• use of soap with surfactants (surfactants) for washing the body;
• use of household cleaners and detergents without protective equipment (gloves);
• use of alcohol-based cosmetics;
• hormonal changes in the body, age-related changes;
• long-term use of hormonal agents - systemic and external glucocorticoid drugs;
• metabolic disorders;
• violations of the daily routine - work/rest/sleep;
• diseases of the endocrine system, skin, gastrointestinal tract: psoriasis, eczema, ichthyosis, dermatitis, keratosis pilaris, diabetes, gastroduodenitis, hepatitis, liver cirrhosis, hypothyroidism, oncological diseases.

The main cause of ichthyosis is a hereditary gene mutation provoked by a violation of the metabolism (metabolism) of proteins and fats.

1.4 Coding according to ICD-10

Q80.0 – Simple ichthyosis;

Q80.1 – X-linked ichthyosis (X-linked ichthyosis);

Q80.2 – Lamellar ichthyosis;

Q80.3 – Congenital bullous ichthyosiform erythroderma;

Q80.4 – Ichthyosis of the fetus (“Harlequin fetus”);

Q80.8 – Other congenital ichthyosis;

Q80.9 – Congenital ichthyosis, unspecified.

Q80.0 - Simple ichthyosis;

Q80.1 - X-linked ichthyosis [X-linked ichthyosis];

Q80.2 - Lamellar ichthyosis;

Q80.3 - Congenital bullous ichthyosiform erythroderma;

Q80.4 - Ichthyosis of the fetus ["Harlequin fetus"];

Q80.8 - Other congenital ichthyosis;

Q80.9 - Congenital ichthyosis, unspecified.

1.3 Epidemiology

According to the literature, the frequency of occurrence of congenital ichthyosis in the population depends on the geographical zone and is on average: for vulgar ichthyosis - 1:250-1:1,000, X-linked - 1:2,000-1:6,000, lamellar - less 1:300,000, for ichthyosiform erythroderma - 1:100,000.

On the territory of the Russian Federation in 2011, only 6,488 patients were registered, of which 1,384 were diagnosed for the first time in their lives. There are 2847 children in total, which is 13.1 people per 100,000 population, of which 858 people were diagnosed for the first time in their lives (3.9 people per 100,000 population).

RCHR (Republican Center for Health Development of the Ministry of Health of the Republic of Kazakhstan)
Version: Clinical protocols of the Ministry of Health of the Republic of Kazakhstan - 2015

Congenital bullous ichthyoform erythroderma (Q80.3), Congenital ichthyosis, unspecified (Q80.9), Other congenital ichthyosis (Q80.8), Ichthyosis fetus [harlequin fetus] (Q80.4), Ichthyosis simple (Q80.0), Ichthyosis, x-linked (Q80.1), Lamellar ichthyosis (Q80.2)

Orphan diseases

general information

Short description

Recommended
Expert advice
RSE at the RVC "Republican Center"
healthcare development"
Ministry of Health
and social development
Republic of Kazakhstan
dated September 15, 2015
Protocol No. 9

Classification

Clinical classification:
Taking into account the genetic factor:
1. Hereditary forms:
Autosomal dominant (vulgar, simple);
Autosomal recessive (lamellar, fetal ichthyosis, linear circumflex ichthyosis of Komel, spiny ichthyosis of Lambert);
· X-linked recessive.

2. Hereditary syndromes including ichthyosis:
· Netherton;
· Refsuma;
· Ore;
· Sjögren-Larsson;
· Jung-Vogel;
· Popova;
· Dofman-Chanarin syndrome;
· Conradi-Hünermann syndrome;
· IBIDS syndrome;
· CHILD syndrome;
· KID syndrome.

3. Ichthyosiform acquired conditions:
· symptomatic (hypovitaminosis A, blood diseases, malignant neoplasms, etc.);
· senile ichthyosis;
discoid ichthyosis.

Depending on the type of scales:
· simple ichthyosis (scales are small, all skin is affected);
· shiny ichthyosis (scales are arranged in the form of a mosaic, grayish-transparent);
· Ichthyosis serpentine (scales are large, grayish-brown).

According to the severity of the clinical picture:
· severe form (the child is born premature and dies within the first days);
· moderate severity (benign, i.e. compatible with life);
· late form (first manifestations from 2-3 months of life, less often - 2-5 years).

Depending on the time of development:
· infant (up to 2 years);
· children (from 2 to 13 years);
· adult.

According to the prevalence of the process:
· limited;
· widespread;
· diffuse.

Diagnostics

List of basic and additional diagnostic measures

Basic (mandatory) diagnostic examinations performed on an outpatient basis:
· UAC;
· OAM.

Additional diagnostic examinations performed on an outpatient basis:(level of evidence III, IV - C, D)
· biochemical blood tests.

The minimum list of examinations that must be carried out when referred for planned hospitalization: in accordance with the internal regulations of the hospital, taking into account the current order of the authorized body in the field of healthcare.

Basic (mandatory) diagnostic examinations carried out at the hospital level:
· UAC;
· OAM.

Additional diagnostic examinations carried out at the hospital level: (level of evidence II, III - B, C)
· pathomorphological examination of skin biopsy followed by histology;
· electron microscopic examination;
· level I and II immunogram.

Diagnostic measures carried out at the stage of emergency care: are not carried out.

Diagnostic criteria for diagnosis:

Complaints and anamnesis:
Complaints:
· dry skin;
· feeling of tightness;
· roughness of the skin;
peeling;
onychodystrophy;
· thinning, thinning hair;
· moderate itching.

Anamnesis:
· Time of appearance of the first symptoms of the disease: with simple (vulgar) ichthyosis, the skin of the newborn is not affected, the first manifestations are in the first year of life (3-7 months) or later (up to 5 years); with X-linked ichthyosis, the first manifestations are from birth, but more often it begins in the first weeks or months of life.
· Heredity: the presence of ichthyosis in relatives of the 1st and 2nd degrees of relationship;
· Seasonality of the disease: with simple ichthyosis, there is a clear seasonality - improvement in the summer and increased clinical manifestations in winter; With X-linked ichthyosis, seasonality is weakly expressed, but improvement in the summer is noted by most patients.

Allergy history:
· Often a combination of congenital ichthyosis with atopic dermatitis; there may be simultaneous manifestations of bronchial asthma, vasomotor rhinitis, and urticaria. Characterized by intolerance to a number of foods and medications.
· Presence of concomitant diseases. Simple congenital ichthyosis is characterized by diseases of the gastrointestinal tract and biliary tract (gastritis, enterocolitis, biliary dyskinesia). Cryptorchidism or hypogenitalism occurs. Patients are susceptible to pyococcal, viral and fungal infections. In X-linked ichthyosis, corneal opacity without visual impairment and cryptorchidism are observed.

Physical examination:
Pathognomonic symptoms:
· dry skin;
· fine-lamellar diamond-shaped peeling, their color varies from white and dark gray to brown;
· follicular keratosis;
· increased skin pattern on the palms and soles;
· hyperlinearity of the palms and soles.

Laboratory diagnostics:(level of evidence II, III - B, C)
Histological examination of skin biopsy: moderate hyperkeratosis with the formation of keratotic plugs at the mouths of hair follicles; thinning or absence of the granular layer. In the dermis there are scanty perivascular lymphohistiocytic infiltrates, the sebaceous glands are atrophic, the number of hair follicles and sweat glands is not changed.

Electron microscopy: a sharp decrease in the number of keratohyalin granules, their small size, localization at the edge of the tonofilament bundles; reduction in the number of lamellar granules; single granular epithelial cells.

Instrumental studies: are not carried out.

Indications for consultation with specialists:
· medical and genetic counseling to verify the diagnosis and predict the likelihood of the disease in repeated pregnancies;
· gastroenterologist (in the presence of hepatomegaly, splenomegaly, biliary dyskinesia, gastritis, colitis, duodenitis, etc.);
· ophthalmologist (in the presence of ectropion, myopia, farsightedness, astigmatism, convergent strabismus, partial atrophy of the optic nerve, dacryocystitis of newborns, etc.);
otorhinolaryngologist (in the presence of sensorineural hearing loss, decreased hearing acuity due to occlusion of the external auditory canal, chronic tonsillitis, etc.);
· neurologist (for hereditary syndromes, including ichthyosis, combined with concomitant pathology in the form of hydrocephalus, microcephaly, epilepsy, mental retardation, polyneuritis, paresis and paralysis of the distal limbs, gait disorders, pathological position of the feet, cerebellar symptoms (ataxia, nystagmus) and etc.) ;
· allergist (in the presence of concomitant pathology in the form of bronchial asthma, allergic rhinitis, urticaria, hay fever and other allergic conditions);
· endocrinologist (in the presence of concomitant pathology in the form of cryptorchidism, hypogonadotropic hypogonadism, mental retardation, pathology of the thyroid and pancreas, etc.);
· pediatrician (in the presence of pneumonia, anemia, immunodeficiency conditions, decreased body mass index and other conditions).

Differential diagnosis

Differential diagnosis
Differential diagnosis of congenital ichthyosis is carried out with diseases such as acquired ichthyosis, ichthyosiform dermatoses, psoriatic erythroderma and others. Table 1 shows the main clinical differential diagnostic criteria for congenital ichthyosis.

Table 1. Main clinical differential diagnostic criteria for congenital ichthyosis:

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Treatment

Treatment goals:

· relief of clinical symptoms: improvement of skin hydration, achievement of keratolysis and normalization of the keratinization process;
· prevention of complications;
· reducing the number of relapses, prolonging remission;
· improving the quality of life and prognosis of the disease.

Treatment tactics:

Non-drug treatment:
Mode No. 2 (general);
Table No. 15 (shared);
It is recommended to limit direct contact with allergens (household chemicals - cleaning, detergents, cosmetics, animal hair, synthetic fabrics).

Drug treatment:
Local therapy: used for all forms of congenital ichthyosis. For mild severity, monotherapy is possible:
Systemic therapy: used in the treatment of moderate forms of congenital ichthyosis.

Treatment should be comprehensive, taking into account the pathogenesis, clinical picture, severity, and complications.
Other drugs from these groups and new generation drugs can be used.

Drug treatment provided on an outpatient basis:

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Systemic therapy
RetinoidsI III, IV- WITH,D)


· Retinol palmitate + alpha-tocopheryl acetate, 10 mg capsules, 1 capsule orally daily, 1 time per day for 10-14 days. Contraindicated in children under 18 years of age.

Local therapy
Dexapanthenol

Drug treatment provided at the inpatient level

List of essential medicines ( having a 100% probability of appointment)

Systemic therapy
RetinoidsIgenerations (level of evidence III, IV- WITH,D)
· Retinol, capsules of 100,000 IU, orally after meals, 1 time per day at the rate of 3500-6000 IU/kg/day, 7-8 weeks with a gradual reduction of the dose by 2 times for maintenance therapy. Contraindicated in children under 18 years of age.
· Retinol, capsules 33000 IU, orally (10-15 minutes after meals) early in the morning or late evening 1 time per day at the rate of 3500-6000 IU/kg/day, 7-8 weeks with a gradual reduction in dose by 2 times for maintenance therapy. Contraindicated for children under 7 years of age.
· Retinol + alpha-tocopheryl acetate, 10 mg capsules, 1 capsule orally daily, 1 time per day for 10-14 days. Contraindicated in children under 18 years of age.

RetinoidsIIgenerations (level of evidenceII - IV - IN)*
· Acitretin, tablets, 0.5-1.0 mg/kg/day, orally with meals or with milk once a day for 2-4 weeks.
· Isotretinoin, tablets, 0.5-1.0 mg/kg/day, orally during meals in two divided doses, 4-6 months.

Hepatoprotectors (level of evidence B)
Ursodeoxycholic acid, capsules, 250 mg, orally, without chewing, with food or a light snack, with sufficient water 3 times a day for the entire course of treatment.

Glucocorticosteroids(level of evidence III, IV- WITH,D)
· Prednisolone, ampoule, 30 mg, 1.0 ml, IV or IM, dose and frequency are determined individually.

Local therapy
Keratolytic agents (level of evidence)II - IV - IN)
· Other emollients containing glycerin (glycerol) or vitamin E acetate.

Dexapanthenol, ointment, cream 5%, applied to damaged or inflamed skin 1-2 times a day (level of evidence IV - C, D).

Topical retinoids(level of evidenceII - IV - IN)*
· Trethionine, 0.1%, 0.05%, 0.025% cream/gel; 0.05% lotion; A 0.1% solution is evenly applied to the washed and dried surface of the affected skin area in a thin layer (gel and cream are applied with a finger, lotion and solution are applied with a cotton swab) 1-2 times a day for 6 hours, then washed off with water. The course of treatment is 4-6 weeks (up to 14 weeks). For preventive purposes - 1-3 times a week for a long time (after treatment with warm water). For people with fair and dry skin, the exposure time at the beginning of treatment is 30 minutes, then the duration of exposure is gradually increased.
· Tazarotene, 0.1%, 0.05% gel; 0.1% cream, apply evenly to the washed and dried surface of the affected skin area, 1 time per day at night.
· Liarozol, 5% cream, apply to the washed and dried surface of the affected skin area evenly 1 time per day at night.

Glucocorticosteroid preparations for external use(level of evidenceIV- WITH,D)

Very strong (IV)
· Clobetasol propionate, 0.05% ointment, cream, applied to the affected surface of the skin in a thin layer, lightly rubbing in, 1-2 times a day.
Strong (III)
· Betamethasone valerianate, 0.1% ointment, cream, applied in a thin, even layer to the affected area of ​​skin 1-2 times a day, or
· Methylprednisolone aceponate, 0.1% ointment, cream, applied in a thin, even layer to the affected area of ​​skin 1-2 times a day, or
Mometasone furoate, 0.1% cream, ointment, apply a thin, even layer to the affected area of ​​skin 1-2 times a day, or
· Betamethasone dipropionate, 0.05% cream, ointment, apply a thin, even layer to the affected area of ​​the skin 1-2 times a day.
Moderately strong (II)
· Fluocinol acetonide, 0.025% cream, ointment, apply a thin, even layer to the affected area of ​​skin 1-2 times a day, or
· Triamcinolone acetonide, 0.1% cream, ointment, apply a thin, even layer to the affected area of ​​skin 1-2 times a day, or
· Flumethasone pivalate, 0.02% cream, ointment, apply a thin, even layer to the affected area of ​​the skin 1-2 times a day.
Weak (I)
· Prednisolone, 0.25%, 0.5% cream, ointment, applied externally in a thin, even layer to the affected area of ​​skin 1-2 times a day, or
· Hydrocortisone acetate, 0.1%, 0.25%, 1.0% and 5.0% cream, ointment, apply a thin, even layer to the affected area of ​​the skin 1-2 times a day. Combined:
Betamethasone dipropionate + gentamicin sulfate + clotrimazole, three-component ointment containing 1000 mg: betamethasone dipropionate + gentamicin sulfate (1 mg) + clotrimazole (10 mg), apply a thin layer to the entire affected skin surface and surrounding area, 1-2 times a day , or
· Hydrocortisone + natamycin + neomycin, three-component ointment, cream containing 1000 mg: hydrocortisone + natamycin (10 mg) + neomycin (3500 units), apply a thin layer to the entire affected surface of the skin and surrounding area 1-2 times a day, or
· Betamethasone + gentamicin, two-component ointment, cream containing 1000 mg: betamethasone (1 mg) + gentamicin sulfate (1 mg), apply a thin layer to the entire affected surface of the skin and the surrounding area 1-2 times a day.

Drug treatment provided at the emergency stage: not necessary

Other types of treatment:
· selective phototherapy with a course of 15-20 procedures;
· combined photochemotherapy (PUVA) with vitamin A preparations, a course of 15-20 procedures;
· external baths:
salt baths (10 g/l sodium chloride, t°=35-38°C, 10-15 minutes);
starch (1-2 cups of starch, t°=35-38°C, 15-20 minutes);
sulfide (0.1-0.4 g/l, t°=36-37°C, 8-12 minutes);
oxygen (under pressure = 2.6 kPa, t° = 36°C, 10-15-20 minutes);
alkaline, pityriasis, baths with sea salt or chamomile decoction.

Other types of treatment provided on an outpatient basis: No.

Other types of services provided at the stationary level:
· broadband phototherapy UVA+UVB (290-400 nm);
· narrowband UVB phototherapy (311-313 nm);
· UVA-1 (340-400 nm).

Other types of treatment provided at the emergency stage: not necessary.

Surgical intervention: no.

Surgical intervention provided on an outpatient basis: no.

Surgical intervention provided in an inpatient setting: no.

Further management:
· dispensary registration at the place of residence with a dermatologist, pediatrician;
· observation and treatment by related specialists;
· during the inter-relapse period, skin care (use of emollients and other emollients);
· preventive actions;
· Spa treatment;
· medical and social rehabilitation.

Indicators of treatment effectiveness and safety of diagnostic and treatment methods:
reduction or disappearance of subjective sensations,
regression of major skin rashes,
lack of appearance of new elements,
· improvement of general condition.

Drugs (active ingredients) used in treatment

Hospitalization

Indications for hospitalization indicating the type of hospitalization:

Indications for emergency hospitalization: No

Indications for planned hospitalization:
· prevalence of the process, severe course requiring systemic therapy;
· lack of effect from outpatient treatment.

Prevention

Preventive actions:
· medical genetic consultation;
· conversation with parents about the high risk of having a sick child, as well as the possibility of stillbirth with a high degree of expressiveness, as well as death from sepsis, pneumonia, etc.;
· perinatal diagnostics;
· Contact with dehydrating agents and allergenic substances is not recommended, and do not use alkaline soaps;
· elimination of risk factors;
· treatment of concomitant pathology;
· courses of herbal medicine, adaptogens;
· use of medicinal and cosmetic products;
· Spa treatment.

Information

Sources and literature

1. Minutes of meetings of the Expert Council of the RCHR of the Ministry of Health of the Republic of Kazakhstan, 2015
   1. List of used literature: 1. Mordovtsev V.N. Hereditary diseases and malformations of the skin: Atlas. Moscow, 2004 2. D. Vaigundan, Neha V. Kalmankar, J. Krishnappa et al. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient. Biomed Res Int. 2014; 2014: 706827. 3. Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013 Feb;37(1):26-31. 4. Rational pharmacotherapy of skin diseases and sexually transmitted infections. A Guide for Practitioners, ed. A.A. Kubanova, V.I. Kisina. Moscow, 2005 5. Dermatovenereology, 2010 / [ed. A.A. Kubanova]. – M.: DEX-Press, 2010. – 428 p. – (Clinical guidelines / Russian Society of Dermatovenerologists). 6. Federal clinical recommendations for the management of patients with ichthyosis. Russian Society of Dermatovenereologists and Cosmetologists. Moscow, 2013 7. Dykes, P. J. A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration / P. J. Dykes // British Journal of Dermatology. 1979. Vol. 100, issue 5. P. 585–590. 8. Foundation for Ichthyosis and Related Skin Types / Jean Pickford. Mode of access: http://www.scalyskin.org/index.cfm. Date of access: 09/25/2010. 9. Differential diagnosis of skin diseases. A guide for doctors, ed. B. A. Berenbeina, A. A. Studnitsina. Moscow, 1989 10. J.-D. Fine, H. Hintner. Epidermolysis bullosa. Moscow, 2014 11. Skin and venereal diseases. Guide for doctors. Edited by Yu.K. Skripkin. Moscow, 1999 12. Treatment of skin and venereal diseases. Guide for doctors. THEM. Romanenko, V.V. Kaluga, S.L. Afonin. Moscow, 2006 13. V.F. Zhernosek, E.V. Lameko, A.S. Pochkaylo. Hereditary ichthyosis: classification, clinical manifestations, diagnosis, treatment (educational manual) / Minsk, 2014 14. British Association of Dermatologists" guidelines on the efficacy and use of acitretin in dermatology. Ormerod AD, Campalani E, Goodfield MJD. Br J Dermatol 2010;162:952-963 15. Laurberg G, Geiger JM, Hjorth N, Holm P et al. Treatment of lichen planus with acitretin. A double-blind, placebo-controlled study in 65 patients. / J. Am. Acad. Dermatol. - 1991 Mar. - Vol. 24. - Issue 3. - P. 434-437. 16. Narkewicz M.R., Smith D., Gregory C., Lear J.L. Effect of ursodeoxycholic acid therapy on hepatic function in children with intrahepatic cholestatic liver disease // J. Pediatr. Gastroenterol. Nutr. - 1998. - Vol. 26. - N. 1. - P. 49-55. 17. Rastoltsev KV, Lantsov DS, Kishchenko NV, Albanova VI, Belikov AN, Komleva LF. Skin morphology in congenital ichthyosis (Harlequin fetus). Arkh Pathol. 2015 Mar-Apr;77(2):39-42.

Information

List of developers:

1) Batpenova Gulnar Ryskeldievna - Doctor of Medical Sciences, Professor, Head of the Department of Dermatovenerology of Astana Medical University JSC, Chief freelance dermatovenerologist of the Ministry of Health of the Republic of Kazakhstan
2) Natalya Olegovna Tsoi - PhD, senior researcher at the RSE at the PVC "Research Dermatovenerological Institute" of the Ministry of Health of the Republic of Kazakhstan.
3) Baev Asylzhan Isaevich - Candidate of Medical Sciences, senior researcher at the RSE at the Scientific Research Institute of Dermatovenerology and Venereal Diseases of the Ministry of Health of the Republic of Kazakhstan.
4) Dzhetpisbaeva Zulfiya Seitmagambetovna - Candidate of Medical Sciences, Associate Professor of the Department of Dermatovenereology of Astana Medical University JSC.
5) Ikhambaeva Ainur Nygymanovna - JSC National Center for Neurosurgery, clinical pharmacologist.

Conflict of interest: absent.

Reviewer: Nurusheva Sofya Mukhitovna - Doctor of Medical Sciences, Head of the Department of Skin and Venereal Diseases of the RSE at the Kazakh National Medical University named after S.D. Asfendiyarov."

Conditions for reviewing the protocol: review of the protocol 3 years after its publication and from the date of its entry into force or if new methods with a level of evidence are available.

Attached files

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Ichthyosis (from the Greek ichthys - fish) is a hereditary skin disease characterized by a diffuse disorder of keratinization such as hyperkeratosis.

Etiology and epidemiology of ichthyosis

Ichthyosis vulgaris is characterized by an autosomal dominant mode of inheritance, with incomplete penetrance and variable expressivity. The main genetically determined defect is a violation of the expression of the protein of keratohyalin granules profilaggrin. Gene polymorphism was discovered on chromosome 1q22. Mutations in the profilaggrin gene (R501X and 2282del4) were identified. The possibility that several genes are involved, one of which affects profilaggrin expression, cannot be ruled out. Filaggrin deficiency leads to a decrease in the content of free amino acids in the stratum corneum of the epidermis, which are capable of retaining water, which causes increased dryness of the skin of patients with ichthyosis vulgaris.The prevalence of the disease in the population is 1:250 (among adolescents) and 1:5300 (among adults).X-linked ichthyosis is characterized by a recessive, X-linked mode of inheritance. Genetic defect – mutations in the steroid sulfatase gene, with a locus at Xp22.32. Deficiency of this enzyme leads to the deposition of excess cholesterol sulfate in the epidermis, increased adhesion of horny scales and retention hyperkeratosis.The prevalence of the disease in the population is 1:2000–1:9500. Only males are affected.

Lamellar ichthyosis can be inherited either autosomal recessively or autosomal dominantly. In some cases, mutations of the gene encoding the enzyme transglutaminase of keratinocytes (chromosome 14q11) are detected, which leads to a defect in the cells of the stratum corneum structure.The prevalence of the disease in the population is 1:200,000–1:300,000.

Congenital bullous ichthyosiform erythroderma - an autosomal dominant type of inheritance can be traced in approximately half of the cases. In other cases, the pedigrees contain only one proband. Linkage was detected with 12q11-13 and 17q12-q21 (mutations in the keratin genes K1 and K10).The prevalence of the disease in the population is 1:300,000.

Fetal ichthyosis is characterized by an autosomal recessive type of inheritance with full gene penetrance, expressivity ranging from moderate to severe clinical manifestations.The prevalence in the population is 1:300,000.

Other congenital ichthyosis - this group includes a number of syndromes that include ichthyosis as one of the symptoms: Netherton syndrome, Rood syndrome, Sjögren-Larsson syndrome, Young-Vogel syndrome, linear circumflex ichthyosis of Komel.

Classification of ichthyosis

• Q80.0 Simple ichthyosis (syn.: vulgar autosomal dominant ichthyosis, ordinary ichthyosis);
• Q80.1 X-linked ichthyosis (syn.: X-linked ichthyosis, blackening ichthyosis);
• Q80.2 Lamellar ichthyosis (syn.: lamellar ichthyosis, collodion child, dry ichthyosiform erythroderma);
• Q80.3 Congenital bullous ichthyosiform erythroderma (syn.: Broca's erythroderma, ichthyosiform epidermolytic hyperkeratosis;
• Q80.4 Fetal ichthyosis (syn.: “Harlequin fetus”, congenital keratosis, intrauterine ichthyosis, universal congenital hyperkeratosis);
• Q80.8 Other congenital ichthyosis (congenital nonbullous ichthyosiform erythroderma);

Clinical picture (symptoms) of ichthyosis

Ichthyosis vulgaris

The main clinical signs of the disease are peeling, increased folding of the palms and soles, and follicular hyperkeratosis.
Peeling is most pronounced on the extensor surfaces of the extremities; the skin of the back and abdomen and scalp are less affected. The scales are mostly small, thin, with wavy edges, their color varies from white and dark gray to brown. On the skin of the legs, the scales are the darkest and thickest, polygonal in shape, tightly attached. Follicular hyperkeratosis in the form of small dryish nodules at the mouths of hair follicles is observed on the skin of the thighs, shoulders, forearms and buttocks, and can also be localized on the skin of the torso and face. When palpating the affected areas, the “grater” syndrome is determined.

The palms and soles have an accentuated pattern and increased folding, which gives them an aged appearance. In summer, painful cracks often appear on the soles. The nail plates are brittle, crumble from the free edge, and sometimes onycholysis develops. Hair becomes thinner and thinner. The expressiveness of vulgar ichthyosis is variable. There are abortive forms of the disease, which are characterized by dry skin with slight peeling and increased folding of the palms and soles.

• The appearance of clinical symptoms in the first year of life (3–7 months) or later (up to 5 years).
• Clear seasonality with improvement in summer and increased clinical manifestations in winter.
• Association with allergic diseases: patients with ichthyosis vulgaris are prone to allergic diseases and atopy. The frequency of combination with atopic dermatitis reaches 40–50%. Manifestations of bronchial asthma, vasomotor rhinitis, and urticaria may occur simultaneously. Characterized by intolerance to a number of foods and medications.
• Association with diseases of the gastrointestinal tract (gastritis, enterocolitis, biliary dyskinesia), cryptorchidism or hypogenitalism is less common (in 3% of patients). Patients are prone to pyococcal, viral and fungal infections.

X-linked ichthyosis

Immediately after birth or in the first weeks of life, dry skin is noted. Later, light and dark brown scales appear on the extensor surfaces of the limbs. The back surface of the neck takes on a “dirty” appearance due to the accumulation of scales. The armpits, cubital fossa and genital area are free of lesions. A distinctive feature from other forms of ichthyosis is the absence of “glove”-type lesions on the skin of the face and hands.

The disease is characterized by the following symptoms:

• The presence of ichthyosis in the patient’s 1st and 2nd degree relatives. Only males are affected. Women are heterozygous carriers of the defective gene and do not have clinical manifestations of the disease.
• The appearance of clinical symptoms from birth or from the first weeks of life.
• Weak seasonality, but most patients note an improvement in their skin condition in the summer.
• Absence of associations with atopic dermatitis and respiratory atopy in most patients.
• Clouding of the cornea without visual impairment (in 50% of patients), cryptorchidism (in 20% of patients).

Lamellar ichthyosis

Generalized lamellar peeling is noted, simultaneously with which palmoplantar hyperkeratosis is necessarily observed, which is a constant clinical sign of the disease. The scales on smooth skin are usually small and light, but on the legs they are large and form lamellar peeling. Some patients experience deformation of the ears.

The disease is characterized by the following symptoms:

• The presence of ichthyosis in the patient’s 1st and 2nd degree relatives.
• The appearance of clinical symptoms from birth: the fetus is born in a colloidal film or a state of generalized erythroderma, then by 6–7 months after birth, generalized lamellar desquamation develops.
• Absence of physical and mental development disorders in patients.
• Lack of seasonality.

Congenital bullous ichthyosiform erythroderma

In the area of ​​large natural folds (knee, elbow, wrist and ankle joints, on cervical folds, in the area of ​​the armpits) hyperkeratosis with large lamellar horny crumb-like formations is observed. Foci of hyperkeratosis are brown, brown-black or dirty gray in color. Against the background of hyperkeratosis, blisters with serous contents initially appear, and subsequently a secondary infection occurs. At the same time, there is an increase in body temperature and an increase in regional lymph nodes. When the horny layers are rejected, eroded lesions with noticeable papillary growths remain. An unpleasant odor is characteristic due to the frequent addition of a secondary infection.

The disease is characterized by the following symptoms:

• The presence of ichthyosis in the patient’s 1st and 2nd degree relatives.
• The appearance of clinical symptoms from birth: at birth, the baby’s skin looks macerated, soon after birth the skin becomes dry, and in large natural folds it becomes rough and coarse.
• Seasonality of exacerbations of the disease: the appearance of blisters and the subsequent addition of infection is usually observed in autumn and spring.

Fetal ichthyosis

The lesion covers the entire skin in the form of a continuous, varying thickness of horny shell of whitish-yellow or grayish-brown color, which cracks and deep grooves form on the articular surfaces. There is a thick layer of horny layers on the patient’s head, the hair that is present is short, sparse or completely absent. The face is deformed and covered with large horny plates. The mouth is wide open due to severe infiltration of soft tissues; deep cracks are visible in the corners of the mouth. The lips are thickened, their mucous membrane is everted, pronounced ectropion and sparse eyelashes are observed. The ears are deformed and pressed tightly against the skull or folded forward. In the nostrils and ear canals, horny layers in the form of plugs are detected.

The disease is characterized by the appearance of clinical symptoms from birth: at birth, the child’s skin resembles a rough, dry, horny shell of a grayish-whitish or lilac color, which begins to darken in the first hours after birth. Newborns are born premature in 80% of cases.

Diagnosis of ichthyosis

The diagnosis is made based on the clinical manifestations of the disease. The following laboratory tests are used to verify the diagnosis:

• Histological examination of skin biopsies:

Simple ichthyosis is characterized by moderate hyperkeratosis with the formation of keratotic plugs at the mouths of the hair follicles; thinning or absence of the granular layer. Scanty perivascular lymphohistiocytic infiltrates and atrophic sebaceous glands are found in the dermis; the number of hair follicles and sweat glands is not changed.

X-linked ichthyosis is characterized by severe hyperkeratosis, moderate acanthosis, and perivascular lymphohistiocytic infiltrates in the dermis; the granular layer is unchanged or slightly thickened (up to 3–4 rows of cells).

Lamellar ichthyosis is characterized by hyperkeratosis, focal parakeratosis, acanthosis, thickening of the granular layer in some places up to 5 rows. Focal spongiosis is observed in the stratum spinosum. Inflammatory changes in the dermis are moderately expressed. The pilosebaceous follicles are atrophic, their number is reduced, the sweat glands are not changed.

Congenital bullous ichthyosiform erythroderma is characterized by epidermolytic hyperkeratosis, which includes pronounced hyperkeratosis, as well as vacuolar and granular degeneration of the cells of the granular layer and the cells of the upper rows of the spinous layer. Sharply basophilic keratohyalin granules appear stuck together, with rough outlines. Obvious blisters may not be visible, but slit-like defects are usually present due to disruption of connections between highly vacuolated cells in the upper layers of the epidermis.

Fetal ichthyosis is characterized by proliferative hyperkeratosis (sometimes with parakeratosis), granulosis, moderate acanthosis, hypertrophy of the dermal papillae, enlarged sebaceous and sweat glands, and perivascular infiltrates.

• Prenatal diagnosis of X-linked ichthyosis is the detection of steroid sulfatase deficiency in amniotic fluid cell culture or chorionic tissue using Southern blot hybridization of peripheral lymphocyte DNA.
• Determination of the level of cholesterol sulfate in the patient’s blood plasma using quantitative spectrometry reveals an increase in its level in X-linked ichthyosis.
• Electron microscopic examination of the skin (prescribed if differential diagnosis is necessary) allows us to identify the following signs of diseases:

Ichthyosis vulgaris is characterized by a sharp decrease in the number of keratohyalin granules, their small size, and localization at the edge of the tonofilament bundles; reduction in the number of lamellar granules; single granular epithelial cells.

X-linked ichthyosis is characterized by a decrease in the content of lamellar granules. In the granular layer, the number of keratohyaline granules is not changed; they are of normal size.

Lamellar ichthyosis is characterized by the metabolic activity of epithelial cells, as evidenced by an increase in the number of mitochondria and ribosomes in their cytoplasm. Numerous lipid inclusions are detected in the cells of the stratum corneum, and numerous lamellar granules are found in the intercellular spaces.

Congenital bullous ichthyosiform erythroderma is characterized by aggregation of tonofilaments along the periphery of cells, disruption of the connection of tonofilaments with desmosomes; in the cells of the granular layer, in addition to twisted tonofilaments, keratogealin granules are detected in large quantities.

Fetal ichthyosis is characterized by numerous lipid inclusions in the cells of the stratum corneum.

Patients with ichthyosis are advised to undergo medical genetic counseling.

In the presence of concomitant pathology, consultations with an ophthalmologist or gastroenterologist are recommended.

Clinical examination of patients is carried out once a month. It is necessary to regularly conduct a biochemical blood test (including a lipid profile), and with long-term treatment with retinoids, radiography of long bones (to exclude diffuse hyperostosis).

Differential diagnosis

Acquired ichthyosis, unlike hereditary ichthyosis, appears in adulthood, often suddenly, and occurs in 20–50% of cases with malignant neoplasms (most often with lymphogranulomatosis, lymphoma, myeloma, carcinomas of the lungs, ovaries and cervix). Skin manifestations may be the first manifestation of the tumor process or develop as the disease progresses. Peeling of the skin, similar to vulgar ichthyosis, also develops with disorders of the digestive tract (malabsorption syndrome), with autoimmune diseases (systemic lupus erythematosus, dermatomyositis), endocrine disorders (diabetes mellitus), blood diseases, kidney diseases, rarely when taking certain medications - cimetidine, nicotinic acid, antipsychotic drugs.

The histological picture of acquired ichthyosis does not differ from that of hereditary forms of ichthyosis. A thorough history taking, examination of the patient’s relatives, and identification of concomitant pathologies in the patient helps make a diagnosis.

Ringworm (keratosis pilaris). The process is mainly localized on the extensor surfaces of the extremities and is represented by symmetrical, follicular horny papules of red-brown, grayish-white color against the background of unchanged skin. The skin of the palms and soles is not affected. With age, skin condition improves. Histologically – pronounced follicular hyperkeratosis, the granular layer is preserved.

Treatment of ichthyosis

Treatment Goals

• improvement of skin condition;
• improving the patient's quality of life.

General notes on therapy

Considering the variability of clinical manifestations of vulgar ichthyosis, treatment is prescribed in accordance with the severity of clinical symptoms.

In mild forms of the disease, only external therapy and balneological procedures can be used.

When ichthyosis vulgaris and atopic dermatitis are combined, the use of glycolic acid and sea salt baths are not recommended.

Indications for hospitalization

• fetal ichthyosis;
• ineffectiveness of outpatient treatment;
• secondary infection of skin lesions.

Treatment methods for ichthyosis:

Simple ichthyosis

Systemic therapy

For severe peeling and dry skin, retinol 3500–6000 IU per kg body weight per day is prescribed

External therapy

• Keratolytic agents: products containing 2–5%–10% urea, 2–5% salicylic acid, 8% lactic acid and glycolic acid
• Emollients and moisturizers: cream with ergocalciferol, ointment with retinol 0.5%, oil-in-water creams. Do not use alkaline soap for washing.

Balneological treatment:

• Salt baths at 35–38°C at a concentration of 10 g/l sodium chloride, followed by rubbing 10% saline cream with lanolin and fish oil into the skin
• Baths with sea salt, starch (1–2 cups of starch per bath), bran, soda, chamomile decoction (38 0 C),
• For sanatorium-resort treatment, the following are recommended: sulfide baths - moderate-intensive regimen (0.1–0.4 g/l), 36–37°C; oxygen baths under pressure 2.6 kPa, (36°C).
• General ultraviolet exposure

X-linked ichthyosis.

Systemic therapy:

• retinol (D) 6000–8000 IU per kg body weight per day, maintenance dose should be as low as possible. Repeated courses of retinol palmitate therapy can be carried out after 3-4 months.
• Acitretin 0.3–0.5 mg per kg body weight per day orally with a gradual dose reduction down to the minimally effective dose.

External therapy and balneological treatment are similar to those for simple ichthyosis.

Lamellar ichthyosis.

Acitretin 0.3–0.5 mg per kg body weight per day orally, followed by maintenance treatment with a 2–3-fold reduction in the drug dose. If treatment is discontinued, relapse occurs on average after 6 weeks. The combination of synthetic retinoids with phototherapy increases the effectiveness of treatment

Congenital bullous ichthyosiform erythroderma.

Acitretin 0.3–0.5 mg per kg body weight per day orally. Aromatic retinoids may increase skin fragility, possibly resulting in an increase in the bullous component. To speed up the healing of erosions, it is recommended to use topical agents that stimulate regeneration.

Ichthyosis of newborns.

Newborns require intensive care in an incubator.

Parenteral correction of water and electrolyte balance and the use of systemic antibacterial drugs are necessary.

Severe forms of congenital ichthyosis require systemic therapy. To achieve an effect, it is necessary to start treatment in the first days of the child’s life. The complex of therapeutic measures includes the prescription of systemic glucocorticosteroid drugs at the rate of prednisolone 2–5 mg per kg of body weight per day with a gradual dose reduction until complete withdrawal.

Skin care involves moisturizing, healing cracks and preventing infection. The use of keratolytics and mechanical removal of stratum corneum are not recommended.

Requirements for treatment results

• reducing the severity of peeling and hyperkeratosis;
• healing of erosions and cracks;
• elimination of secondary infection of skin lesions.

Tactics in the absence of treatment effect

Individual selection of skin softening and moisturizing products

Prevention of ichthyosis

There are no methods of prevention.

You should limit contact with allergenic substances from household chemicals - cleaning, detergents and cosmetics, contact with animal hair and synthetic materials.

IF YOU HAVE ANY QUESTIONS ABOUT THIS DISEASE, CONTACT DOCTOR DERMATOVENEROLOGIST KH.M. ADAEV:

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EMAIL: [email protected]

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