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Accutane is given to patients for treating severe acne that do not respond to other medicines. Accutane is a retinoid. It works by reducing skin oil production, changing the characteristics of the skin oil, and preventing abnormal hardening of the skin.

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Congenital skin diseases - Genedermatosy


The term "phacomatosis" comes from the Greek word "fakon" - nevus. Fakomatozy - diseases characterized by combined nevoid tumors, hamartomas of several organs (skin, nervous system, etc.). These are monogenic defects. The effect of the gene is manifested even in prenatal development, when differentiation is disturbed at the embryonic stage. This action usually continues postnatal. For all phakomatoses, the progression pattern is characteristic. The term "phacomatosis" is derived from the Greek word "fakon" - nevus. Fakomatozy - diseases characterized by combined nevoid tumors, hamartomas of several organs (skin, nervous system, etc.). These are monogenic defects. The effect of the gene is manifested even in prenatal development, when differentiation is disturbed at the embryonic stage. This action usually continues postnatal. For all phakomatoses, a progressive course is characteristic.

Inheritance is primarily autosomal dominant.

Skin symptoms do not determine the severity of the disease, but are of great diagnostic value.

Tuberous sclerosis

Inheritance is autosomal dominant, both sexes are affected, expressiveness is highly variable, and incomplete penetrance is possible. The population frequency is 1:30 000. The classical triad: skin lesions, epilepsy and mental retardation. The flow is progressive, but slow.

Skin lesions:

  • 1) facial pseudoadenomas (hamartomas with angiomatous proliferation, the presence of vascular, connective tissue elements, sebaceous-hair structures);
  • 2) achromatic leaf-like spots;
  • 3) okolonogtevye fibroma;
  • 4) connective tissue nevi in the form of shagreen plaques.

Facial pseudo-adenomas appear usually at the age of 4-8 years or somewhat later, do not get nagged and do not disappear in contrast to vulgar acne, are clearly delineated and more dense. In adults, they can form a resemblance to rhinophyma. Clinically: closely grouped, symmetrical numerous hemispherical nodules of a reddish color with a yellowish or brown tinge. Localization: nose, adjacent cheeks, nasolabial and chin creases.

Achromatic leaf-like spots - the earliest symptom (maybe from birth) - are clearly visible in the Wood's lamp. Often have irregular jagged outlines. Number 4-6, described up to 22 - a back, a loin, buttocks, sometimes a breast, extremities. The diameter is a few centimeters.

Near-groove fibroids appear with age and not at all. They are growing hamartomas, consisting of collagen fibers and blood vessels, usually multiple.

Connective tissue nevi appear due to the proliferation of fibrous tissue - on the skin of the forehead, eyelids, loins, etc. Slightly protrude, a yellowish hue with a rough surface. The diameter can be quite large (up to 10-15 cm).


The population frequency is 1: 3000. More than 2-3 generations are usually not transmitted. There are 2 forms: peripheral and central (tumor-like symptoms of CNS lesion) neurofibromatosis. Since birth, there are "coffee stains", and neurofibromas, bone changes, diencephalic disorders are formed in the future.

"Coffee stains" - small lentigopodobnye spots and soft neurofibromas. Typical localization - axillary folds, perineum. Then there are larger spots (up to 2-3 cm), there may be diffuse pigmentation (for example, on the back). Rashes are almost not found on the limbs (usually - on the trunk, neck). In adults, new spots do not appear, in old age some of them may disappear.

In the second decade and later, skin tumors and tumors of nerve trunks appear (any localization is possible).

Treatment is symptomatic. Avoid stimulant drugs, physiotherapy.

Angiomatous phacomatosis

The Sterde-Weber-Crabbe Syndrome: a unilateral vascular nevus on the face from birth, lesions of the vessels of the eyes and intracranial vessels on the side of the lesion.

Clippel-Trenone syndrome: one-sided telangiectatic nevus, varicose veins on one limb.

Pigmentation disorders

Albinism. Disease in which melanin is absent or formed in insufficient quantity in the skin, hair, sclera, retina. The number of melanocytes remains normal. The main cause is tyrosinase deficiency.

Total albinism. Perhaps X-linked and autosomal recessive inheritance. Frequency of occurrence in the population is 1:10 000. The skin is dry, pink, sweating is reduced, hypothyroidism is possible. Eyes red, hair colorless. Characterized by a decrease in visual acuity, refraction, photophobia, blepharocononuctivities. Because of the increased sensitivity to UVD, solar dermatitis develops, leading to superficial skin atrophy, telangiectasia, and later to keratosis. Perhaps degeneration into cancer. Possible combination with deaf-mute, oligophrenia, epilepsy, polydactyly, etc.

Subtotal albinism. Frequency of occurrence - 1:20 000 (for Indians - 1:10 000). Inheritance is autosomal recessive, rarely autosomal dominant. The basis is a violation of melanoblast differentiation.

Partial albinism. There is no pigment in some parts of the skin. On the middle line of the forehead - autosomal dominant inheritance with incomplete penetrance, frequency of occurrence - 1:20 000.1: 25 000. At the nape - autosomal recessive. There are no other defects. There may be an isolated albinism of the eyes.

Bullous epidermolysis

Bullous epidermolysis is a group of diseases associated with mutations. Different forms of this disease are associated with various gene mutations. Some of these forms are inherited autosomally dominant, some are autosomal recessive.

Pathogenesis is poorly understood. For all forms of bullous epidermolysis, abnormalities are present at the level of the basal membrane.

The clinical picture is very variable. In most cases, the disease manifests itself from the first days of life: minimal mechanical effects on the skin lead to the formation of bubbles and erosion.

Isolate simple and dystrophic forms of bullous epidermolysis. In simple forms, the basal membrane is not damaged and erosion heals without scarring. In dystrophic forms, exfoliation of the epidermis takes place at the boundary between the basal membrane and the dermis. Damage to connective tissue leads to the formation of scars.

Treatment is predominantly symptomatic. The most important is the maximum possible prevention of traumatism of the skin of the mucous membranes: gentle skin care, proper professional orientation, etc. When forming erosions, external epithelial agents are used. To improve the condition of the connective tissue of the skin shows high doses of vitamin E and cyclic retinoids. In bacterial complications of the disease, various antimicrobial agents are used. When the child lags behind in physical development, prescribing restorative drugs, anabolics. With the development of various cicatricial complications (contractures, etc.), surgical correction is applied.


Ichthyosis (from Greek ichthy - fish) is a group of diseases characterized by violation of keratinization. The most common vulgar, X-linked, lamellar and epidermolytic ichthyosis.

At the heart of these diseases lie mutations of genes responsible for providing the process of keratinization. For ichthyosis retentional hyperkeratosis is characteristic, due to delayed exfoliation of horny scales. Inheritance of ichthyosis is different: autosomal dominant, autosomal recessive or X-linked.

The most common vulgar ichthyosis. The first manifestations of the disease are usually found at the age of 3-12 months. Men and women get sick with the same frequency. As a rule, the disease is most active during puberty. In adulthood, usually only dry skin and insignificant peeling are preserved.

The severity of clinical manifestations varies. The defeat of the skin with vulgar ichthyosis diffuse, most pronounced on the legs and forearms. Characteristics of dry skin, small-plate peeling, follicular hyperkeratosis. A constant symptom is the hyper-linearity of the skin of the palms and soles. In half of cases, vulgar ichthyosis is combined with atopic disease (often atopic dermatitis).

X-linked ichthyosis more often affects men (the gene is localized in one of the sex chromosomes). The disease manifests itself in the first months of life. Large, dark brown scales appear on the skin of the baby. Large horny strata are often formed. The characteristic localization is the skin of the scalp, neck, trunk, buttocks, extensor surface of the limbs. The skin of the palms, soles, face is not affected. Unlike vulgar ichthyosis, there is no improvement in the course of the disease with age.

Lamellar ichthyosis (an autosomal recessive type of inheritance) is manifested at birth. The skin of the newborn is in a state of erythroderma and is covered with a yellowish-brownish film resembling a collodion. Eyelids and lips are turned around (these symptoms persist all my life). After a few days, scaling develops, and in some children (rarely) the skin can even completely be cleansed. In most cases, the disease keeps its manifestations throughout life. In adulthood, hyperkeratosis usually increases and the manifestations of erythroderma become less noticeable. Lamellar ichthyosis is often combined with dementia.

Epdermolytic ichthyosis (bullous congenital erythroderma of Broca). Characterized by the appearance of flabby bubbles against the background of the bright red skin of the newborn. Nikolsky's symptom is positive. Bubbles are quickly opened with the formation of erosion. Often, the condition adds to the burden of secondary bacterial infection. At the age of 3-5 years, the severity of hyperkeratosis increases, and the number of blisters decreases. Typical localization of the rash is the neck, large folds, the rear of the hands and feet. Scales of dark color, linear in shape, tightly attached to skin.

Treatment of ichthyosis depends on the type of disease and severity of its course. With congenital ichthyosis, systemic glucocorticosteroids are administered at a dose of 1.5 to 3.5 mg / kg body weight per day (prednisolone) no later than 10 days of life. The duration of the course is at least 1 month, then a gradual decrease in the dose of the drug is necessary.

With all clinical forms of ichthyosis, systemic retinoids are effective. However, these drugs have a number of side effects. Therefore, their appointment for mild forms of ichthyosis is not justified. In such cases, external use of this group of drugs is possible.

In addition to topical retinoids, obesity and emollients are prescribed externally. Salt, soda, oil-and-milk and starch baths are shown. With all forms of ichthyosis, sanatorium treatment is recommended (the wet and warm climate benefits), sea bathing.

Skin diseases, connected with direct impact on her factors of
the chemical and physical nature

Dermatitis (contact dermatitis) -inflammatory skin diseases caused by direct exposure to it of exogenous damaging factors of physical and chemical nature. Isolate dermatitis simple and allergic.

Simple (official) dermatitis is caused by obligate physical factors (friction, pressure, high and low temperatures, infrared, ultraviolet, X-rays, ionizing radiation, electric current) and chemical (concentrated acids and alkalis, salts of heavy and alkaline metals, Rocket fuel components, some medicines, plant juices, insect extracts, fish, jellyfish, etc.) of nature. From medicines simple dermatitis can cause mustard plasters, pepper plaster, concentrated tincture of iodine, ethyl alcohol. Of the plants the most significant are nettles, buttercup meadow, spurge, borshevik, etc.

For the development of the disease, the concentration of the damaging factor must exceed the threshold of skin sensitivity, which is individual for each person. Inflammation occurring at the site of skin contact with such factors is normal, and its severity depends on the strength and duration of the action of the damaging agent.

The clinical picture, characteristic for simple dermatitis, practically does not depend on the etiological factor. Inflammatory phenomena occur immediately after contact (exception - radiation dermatitis). The borders of defeat are clear. Subjectively worried about pain and burning.

In acute simple dermatitis, when the damaging factor acts briefly and the intensity of its effect is low, edematous erythema develops (stage 1). With a more intense effect on the background of erythema, large blisters with serous (serous-hemorrhagic) contents form (stage 2). In those cases when the intensity of exposure is very high and the possibilities of skin reactivity are exhausted, a necrotic scab (stage 3) is formed.

Chronic simple contact dermatitis develops with prolonged exposure to the skin of obligate stimuli acting in subthreshold concentration. In such cases, clinical manifestations are characterized by erythema with a bluish tinge, infiltration, skin lichenification.

To simple dermatitis caused by physical factors, is the abrasion, the localization of which corresponds to the places of friction of shoes, instruments, etc. Clinical manifestations are usually 1-2 stages of acute simple dermatitis. It is also possible to form chronic simple dermatitis.

The development of intertrigo is promoted by the increased humidity of the skin regions subjected to friction. In this connection, diaper rash is localized in large and small folds of the skin. In addition to edematous erythema, maturation of the skin and the formation of extensive erosive defects are characteristic for intertrigo.

Simple dermatitis due to exposure to high and low temperatures is often called burns and frostbites, respectively. For the development of ennobling, in addition to low air temperature and its high humidity, predisposing factors (malnutrition, hypovitaminosis, vegetovascular dystonia, anemia, etc.) are necessary. Contributes to the development of resuscitation mechanical pressure (tight shoes, headphones, etc.). Typical localization - areas of the skin that are worse than the bloodstream (tip of the nose, ear tips, cheekbones). Characterized by cyanotic erythema, swelling of the skin. Subjective patients are disturbed by a burning sensation or pain that intensifies when they move to a warm room. In the future, the formation of bubbles, and in their place - erosion and long-term healing ulcers.

Under the influence of electric current on the skin there are coagulation strings. Subjective sensations and pronounced inflammatory phenomena are usually absent.

Simulative dermatitis is usually caused by concentrated solutions of acids and alkalis or hot objects. As a rule, ulcerative necrotic lesions are clinically detected. The simulative character of dermatitis is established on the basis of such signs as the inconsistency of an anamnesis to the clinical picture; Localization in places accessible to the patient's hands; Unusually regular contours of the lesion (round, square, oval, etc.), corresponding to the form of incandescent incandescence or having the appearance of streaks of fluid.

A variety of simple dermatitis of mentally ill people is pathimia - secret artificial skin damage. Damage to the skin can be associated with "dermatozoic delirium".

Treatment of simple dermatitis involves, first of all, the elimination of the etiological factor (with the action of the chemical factor - abundant rinsing, neutralization). The amount of external therapy depends on the severity and severity of the inflammatory process. For mild acute dermatitis, cold lotions with anti-inflammatory agents are usually used. Possible short-term use of creams containing glucocorticosteroid drugs. Bubbles are opened without removing the tire.

General therapy is usually not required, except in cases of severe burns and radiation dermatitis (anesthesia, detoxification, etc.).

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