They are relatively rare. Most often they are superficial, less often deeper. Localized mainly on the scalp in the region of the crown. Occasionally skin defects are on the trunk, limbs, scrotum. The shape of the defects is usually round, with a diameter of 0.5 to 5 cm. On the head, there are skin defects reaching up to the bone. The bone under such a defect may be perforated, and in these cases, life-threatening hemorrhages or infection of the meninges are sometimes observed. Skin defects are, in all likelihood, a consequence of congenital aplasia of the skin and subcutaneous tissue. It should be borne in mind that the cause of such skin defects can be mechanical and thermal damage caused by the service personnel. Treatment consists of applying dry, sterile dressings.

Naevi flammei(naevi teleangiectatici) are bright red spots at the level of the skin, which are formed by capillaries dilated due to congenital weakness of the walls (telangiectasia). They are usually localized on the forehead near the eyebrows and on the back of the neck along the midline in the scalp. These spots disappear without a trace after 1-2 years and do not need treatment.

Cutis hyperelastica(Ehlers-Danlos syndrome). The disease is characterized by increased elasticity and vulnerability of the skin with the formation of hematomas, significant muscle hypotension, joint instability and neurological phenomena with mental retardation. This syndrome is sometimes associated with hypothyroidism and Down's disease. The disease is inherited dominantly (mesenchymal dysplasia).

Congenital grooves... The incidence of congenital furrows in newborns averages one case per 2000-2500 births. Their severity can be very different, from mild to intrauterine "spontaneous amputations" of limbs or even decapitations. Congenital grooves are most often caused by compressed amnion straps or ribbons, amnion scraps, blindness or adhesion of the fetus with its membranes or vascular malnutrition, etc. Sometimes they are combined with other congenital malformations and are genetically determined. Congenital grooves caused by umbilical cord compression are a rare exception.

"Mongolian" spots... We are talking about cyanotic-red spots, usually localized in the sacral and gluteal regions. Among European peoples, these spots are found in newborns in 1-3%, while in our country they are rare. "Mongolian" spots are pigmented skin abnormalities that disappear without treatment after a few years.

Hemangiomas... These are tumor-like vascular formations with an uneven surface, bright red or bluish-red in color. The skin above them is usually not changed and then the angiomas seem to shine through. Hemangiomas are localized on the upper lip, limbs, back, etc. They are prone to ulceration, which sometimes leads to virtually self-healing.

Treatment. The most radical method is early surgical excision, which is performed between the 2nd and 3rd months of a child's life. Radiation therapy produces the best cosmetic results. A cryosurgical method is also recommended - freezing the tumor with carbonic acid.

Lymphangiomas are tumor-like expansion of the lymphatic vessels, sometimes reaching significant sizes even at birth. They are usually localized in the neck in the form of the so-called hygroma colli cysticum. Sometimes lymphagiomas cause attacks of dyspnea, and then intubation has to be used to relieve the child's condition. Lymphangiomas are more likely a congenital malformation than a tumor. Treatment is purely surgical, and radiation therapy is also used.

Lymphangiectatic edema... We are talking about vaguely delimited, doughy consistency edema of one or both lower extremities, arms, penis, etc., which are observed in the first weeks of life. The general condition of the children is normal. With lymphangiectatic edema, we are talking about a congenital anomaly, and not only about a violation of water and electrolyte metabolism. In the differential diagnostic relation, one should bear in mind the Milroy-Meige syndrome, which is characterized by a firm, painless edema of the lower extremities with or without cyanosis of the skin, sometimes accompanied by fever and soreness. Other signs of this syndrome are acromicria, short stature and mental retardation.

Lymphangiectatic edema disappears without a trace after a few weeks without treatment.

Dermoid cyst... This is the so-called sacral tumor, as it is localized in the sacral area. Sometimes even in utero, the dermoid cyst reaches a large size and can become a mechanical obstacle to normal childbirth. The treatment is purely surgical. It should be removed in the neonatal period.

Fibromas and malignant sarcomatous skin neoplasms are rare.

Branchiogenic cysts of the neck located on the front surface of m. sternocleidomastoideus should be promptly removed, as they are prone to fistula formation and secondary infection.

Ichiyosis congenita... This is a congenital anomaly of keratinization of the skin, which develops even in utero. The disease is extremely rare and is sometimes familial. The etiopathogenesis is not fully understood. It is assumed that this is a disease of the embryo itself, dysfunction of the endocrine glands or hypovitaminosis A. In the most severe forms (typus gravis), the entire surface of the newborn's body, with the exception of the palms and feet, is covered with yellowish-gray, sometimes reddish or greenish-brown scales, separated by furrows of various width and depth. The lips and eyelids are greatly thickened, the ears are deformed. In this form, babies are born dead or die a few hours or days after birth. In milder forms, keratinization is not so pronounced, the process is more limited, the scales cover only individual parts of the body. According to Reuss, these forms are best called hyperkeratosis congenita benigna.

Treatment. Assign bran baths and lubrication of the skin with 2-3% salicylic petroleum jelly. The scales are removed with sterile olive oil. It is recommended to prescribe large doses of vitamin A (10,000-15,000 E per day).

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Congenital aplasia of the skin (aplasia cutis congenita)

The etiology and pathogenesis of the disease are unknown. Congenital aplasia of the skin is a developmental defect inherited mainly in an autosomal dominant manner. The disease exists from birth, more often it manifests itself as a single rounded or oval focus of cicatricial alopecia or an ulcerative defect covered with granulations, 2-3 cm in size, located in the parietal region in the fontanel area. Sometimes several lesions form on the scalp. The same changes can be observed on the trunk and limbs. Usually they are symmetrical, similar in size, shape of the lesion and its manifestations (ulceration, defect covered with a film, cicatricial atrophy). Sometimes atrophic changes in deep-lying tissues are also observed, the disease can be combined with other malformations ("cleft lip", malformations of the bone, nervous system, eyes, brain atrophy, etc.), on which the prognosis for life depends.

Histological examination determines a sharp thinning of the epidermis to one layer of cells, dermis and subcutaneous fat, underdevelopment or absence of skin appendages.

Differential diagnosis. Congenital skin aplasia must be differentiated from damage to the scalp during childbirth, in the stage of the scar - from discoid lupus erythematosus, focal scleroderma. The nature of the location and sharp boundaries of the lesion focus, the absence of inflammatory changes and induration, the existence of the disease from birth, and the presence of such defects in several family members often make it possible to establish the correct diagnosis. A similar clinical picture, but with the location of foci of atrophy, mainly in the temples, is observed in familial focal dysplasia of the face. Significant atrophic skin changes are one of the symptoms of focal skin hypoplasia.

SKIN DISEASES IN CONNECTIVE TISSUE DISEASES

Collagenoses, or diffuse connective tissue diseases, are characterized by mucoid and fibrinoid degeneration of the connective tissue, frequent lesions of the joints, serous membranes, skin, internal organs, and the nervous system.

The mechanism of development of collagen diseases is based on the autoimmune process. The group of connective tissue diseases with immune disorders includes systemic scleroderma, systemic lupus erythematosus, dermatomyositis, periarteritis nodosa, rheumatoid arthritis, rheumatism, Shchegren's syndrome, etc.

P. Popkhristov, M. Koycheva-Trashlieva

Aplasia cutis congenita (congenital aplasia of the skin). This condition is the result of a congenital absence of the epidermis, dermis, and sometimes subcutaneous tissue. Oval-shaped or rounded ulcers with pronounced edges of various sizes - from millimeters to centimeters in diameter - are visible. The bottom of the ulcers is covered with granulations or reddish-brown patches. The depth of ulcers is different, they can reach up to the periosteum, bones, muscles and meninges. Skin defects sometimes epithelialize in utero and after birth, oval-shaped scars remain on the skin. They are most often localized on the surface of the head, but they can also be found on other parts of the body.

Treatment. Depending on the size and depth, local antiseptic treatment is used - surgical plastic or hair transplant.

Hiatus cutis congenitusis a congenital skin defect. It is localized in the midline of the body, on the back, abdomen, or thighs. Combines with other malformations. This disease is likely due to rupture of amniotic nodes and tissue aplasia.

1 The prognosis depends on the size of the defect and its combination with encephalocele, cleft lip, bone defects, etc.

Cistea raphes scroti... These are epithelial cysts of various sizes located in the scrotum along the midline and on the side of it, the excretory canals of which are opened in the suture area. Of these, purulent exudate is sometimes allocated. Cysts are felt as slightly painful nodes. Treatment is surgical and consists of excision of the nodes.

Oedema lymphangiectaticum neonatorum ... It is a very rare congenital disease, manifested by the appearance of edema of the hands and feet. It is caused by malformation of the lymphatic vessels and lymph congestion. With age, there is a tendency to regression and spontaneous healing.

Differential diagnosis is carried out with congenital elephantiasis and Milroy Meige syndrome.

CONGENITAL AND HEREDITARY SKIN DISEASES

Naevi vasculares s. angiomatosi. Vascular nevi have the appearance of spotty nodular or tumor-like formations of a pale pink to dark red color that rise flat above the surface of the skin, the intensity of which changes with crying or effort. These formations are visible already at birth or appear later, they are most often located on the skin and mucous membranes of the face, but they can also be found throughout the body and limbs. The following vascular nevi are most common.

Teleangiectasia congenita nuchae (naevus simplex). This vascular nevus is extremely often observed even during the neonatal period. It is localized on the back of the head, on the border between the scalp and smooth skin, as well as on the forehead and nose. It is more common in girls and looks like an erythemal spot. Sometimes it is so hidden that it is visible only when the child cries or strains. It becomes paler with age.

Differential diagnosis. It must be distinguished from inflammatory skin changes (dermatitis and lymphangitis).

Naevus flammeus s. vinosuslocalized everywhere on the skin and mucous membranes, most often on the face. Its sizes are different, this nevus develops mainly unilaterally. The color varies from pale pink to purple, the contours are irregular, usually the surface of the nevus is smooth, it is located at the level of the skin or slightly rises above it. The nevus exists throughout life.

Haemangioma tubero-cavernosumis a tumor-like formation of various sizes, more or less towering above the skin, with a rough surface, and bright red to purple in color. Most often localized on the face: on the lips, tongue and limbs. At first, it develops progressively, but later in 90% of cases, its growth stops before the end of the first year of life. With ulceration, hemangiomas can cause profuse hemorrhages and anemia. Overgrown, they leave behind scars, which often lead to a decrease in their size.

Naevus araneus s. stellatusIt is a flat or slightly elevated erythemal formation with a diameter of 2-3 mm, around which a multitude of thin angiectasias branch out in a star-like manner. Such nevi are single or several together and are most often located on the face. There is evidence that such changes on the skin can appear after insect bites.

The prognosis of vascular nevi is favorable. In most cases, they are a cosmetic problem, except in cases where they create mechanical difficulties when localized near the orbit, nose, mouth and anus. Treatment (after an individual assessment of each case) can be surgical, contact X-ray therapy, or using a color-correcting cosmetic cream. In cases of cavernous, fast-growing hemangiomas, early (in the second month of a child's life) general therapy with corticosteroids at a dose of 1 - 2 mt / kg is indicated, within 1 - 2 months.

In some cases, vascular nevi can be combined with changes in other organs and systems, most often in the bones and nervous system. Vascular syndromes are formed; some of them, such as Lind's syndrome in facial cavernous hemangiomas, are observed simultaneously with hemangiomas in the cerebellum, fourth ventricle of the brain, retina, pancreas and kidneys; Sterge-Krabbe-Weber syndrome, which is a combination of brain hemangiomas with hemangiomas localized on the skin in areas innervated by the trigeminal nerve; Kdiplel-Trenone syndrome - the changes observed in this syndrome are usually localized unilaterally and are expressed by congenital phlebectasias, tuberous plexiform hemangiomas and bone hypertrophy and are localized on the extremities; Parkes-Weber syndrome is similar to that described above and occurs in older children and adults.

Blue rubber bleb naevus syndrom - a combination of multiple oval-shaped skin hemangiomas of a bluish color, resembling a rubber pacifier in consistency, with intestinal hemangiomatosis. Hemangiomas can also be located in the liver, central nervous system, etc.

Kazabach-Merrit syndrome - gigantic hemangioma, most often localized on the extremities, accompanied by thrombocytopenia.

Angimatosis hereditaria hazmorrhagica or Rendu-Osler disease... A family hereditary disease characterized by the appearance of many small hemangiomas on the skin and mucous membranes with hemorrhages occurring from them. They resemble arachnid nevus, sometimes reaching 1-2 cm in diameter. The disease begins in childhood and lasts a lifetime. It is very typical for him to have numerous telangiectasias on the lips, palate and tongue, in the nasal cavity, on the skin of the face and fingers. Similar formations are also found from internal organs - the bladder, uterus, bronchi, retina. There is a risk of anemia and hemorrhage.

Naevi pigmentosi... These are brown spots of various sizes or flat rashes protruding above the surface of the skin, located in various areas of the skin. Their shade and intensity depends on the amount of melanin granules in them: the color varies from light brown to anthracite-black. In some cases, pigmented nevi can be covered with hair and occupy large areas of the body skin (Tierfellnaevus s. Naevus pigmentosus et pillojus). Treatment is surgical.

Naevi hyperkeratotici s. uniuslateralis s. linearis are linear or serrated type of formation of yellowish to brown color, with a rough, like a file, hyperkeratotic surface. They are most often located on one side of the midline of the body. Such nevi appear in the first years of a child's life and are initially prone to progressive development. They can be combined with other similar nevi.

Treatment is carried out locally with keratolytic agents, vitamin A. Abrasion of the dermis can also be carried out.

Ichthyosis vulgaris... The disease begins in infancy, less often later. It is inherited autosomal dominantly, characterized by pathomorphological hyperkeratosis and complete or partial absence of the granulosa epidermal layer. This disease in its varied, varying degrees of clinical forms is characterized by a tendency to form scales and constant peeling of already very dry skin, often hyper-pigmented, dirty grayish-brownish color. Erythema is not observed. In more severe cases, in addition to the skin, the lesion also covers the skin appendages, which change dystrophically. There are the following clinical forms of this disease:

Xerodermia (xerosis cutis s. Ichthyosis abortiva) - the lightest form, which is expressed by the sloughing of a thin layer mainly from the extensor surface of the limbs. Ichthyosis simplex pityriasiformis. The scales, separated from the limbs, are small, attached in the center to the skin, the edges of the scales are bent outward. Palmar-plantar kerato-dermis is observed, hypo- up to anhidrosis. Ichthyosis nitida - the scales in this form of the disease are shiny. Ichthyosis nigricans - with brown or black-green scales. Ichthyosis serpentina - with it, the scales are dense, resembling the skin of a snake. Ichthyosis hystrix (sauroderma) is the most severe form, with sharp corneous processes on the skin at the apex. The disease can be combined with other malformations or exist as isolated forms in a certain place in the form of a nevus formation.

For individual forms of the described disease, it is characteristic that they often turn into one another and it is not always easy to delimit them. Subjective complaints are expressed in a feeling of dry skin, tightness, moderate itching, a tendency to hyperthermia due to hypohidrosis. There is a tendency to eczematization. The psychosomatic development of the child is most often normal.

Ichthyosis congenita s. Erythrodermia ichthyosiformis . Clinic. This disease differs from ichthyosis vulgaris in that it begins early, shortly after the birth of a child, and also covers the extensor surfaces of the limbs, and pathological changes there are most often more pronounced. The disease is inherited in an autosomal recessive manner. Hyperkeratosis - dryness, peeling combined with diffuse erythema of the skin. When one sign dies down, the other intensifies. The skin of the face is reddened, dry and flaky. The hair is covered with yellowish-white scales. Dystrophy of the teeth and changes in the sense organs - ears, eyes, mental and physical retardation are often observed. Erythrodermia ichthyosiformis bullosa is said to be when the appearance of blisters is added to the clinical picture described above. At birth, such children seem to be boiled, their skin is red, flakes off with large red scales.

Sjogren-Larsen syndrome - ichthyosiform erythroderma in combination with spastic paraplegia and mental retardation.

Refzum syndrome- a combination of ichthyosis with deafness, retinitis pigmentosa, polyneuritis and lipid metabolism disorders.

Treatment. For the treatment of all ichthyosis conditions, it is recommended to use keratolytic and skin softeners. Baths of seawater, then lubricating the skin with an ointment consisting of 10% Ung. Na. chlorati, Calmurit salbe vitamins A and E. The humid climate is most favorable for such patients.

DISPLASIAE ECTODERMALES

This group includes many family hereditary diseases of unexplained etiology, in which pathological changes in keratinization of the epidermis, a tendency to blister formation and dystrophic changes in skin appendages are found. Of these, the following are more common:

Polykeratosis congenita Touraine ... Under this name, a significant number of clinical pictures are combined, characterized by: the presence of palmar-plantar keratoderma, often partial, less often - diffuse: hyper-, hypo- or anhidrosis; pachyonychia or onychogryphosis: erythroderma and ichthyosiform desquamation, hypotrichosis, dental dystrophy. On the part of the bone skeleton, osteochondritic changes are established, most often in the knee joints and pelvic bones. Along with hyperkeratotic changes in the skin, you can find on it the appearance of blisters, poikiloderma and leukoplakia on the mucous membranes. The combination of the symptoms described above in various variants forms a large number of syndromes, one of which is the so-called. dyskeratosis congenita Engman-Cole. It is relatively common, affecting more boys between the ages of 5 and 12. The disease progresses and is fully detected in 3-5 years, demonstrated by a triad: poikiloderma-1-leukoplakia + nail dystrophy. This is also joined by palmar-plantar hyperkeratosis, vasomotor disorders, bubbles appear after trauma. The observed leukoplakia can cover, in addition to the oral cavity, all openings and lead to atresia, stenosis and malignant degeneration. Often, the initial symptom is persistent lacrimation after blockage of the lacrimal canals. Skin appendages can undergo dystrophic changes. Of the internal organs, the hematopoietic system is most often affected. Hemorrhages appear on the skin and mucous membranes, thrombopenia, bone marrow aplasia, splenomegaly develop. You can also observe hypo-genitalism, hypoadrenalism, dysphagia, heart block. The child's mental development usually remains normal.

Poikilodermia congenita Thomson. It is characterized by poikilodermic changes in the skin of the face, neck and extremities, expressed by the following elements: erythemal spots, superficial skin atrophy, reticular dyschromia, subtle telangiectasias and desquamation. Blisters, follicular hyperkeratosis, wart-like changes on the skin of the fingers, muscle weakness, gastrointestinal disorders, liver failure, mild porphinuria can also be found. The described changes can be combined with skeletal and dental anomalies.

Epidermolysis bullosa hereditaria ... This group of diseases includes several congenital skin diseases, which are characterized by spontaneous or provoked by minor trauma, the appearance of blisters. The disease manifests itself already at the birth of a child or later in infancy. There are two clinical forms: simple and dystrophic.

Epidermolysis bullosa simplex... The most common form, which begins with the appearance of blisters of various sizes, most often on the limbs, fingers, palms, feet, knees and elbows, in places subject to pressure, impact and friction. The erosion that appears after the rupture of bubbles heals in 5-6 days, often leaving behind hyperpigmented scars. Hair, nails and mucous membranes usually remain unaffected. During the period of pubertal development of a child, the disease can undergo a reverse development until recovery.

Epidermolysis bullosa distrophica ... Depending on the type of inheritance, the disease is divided into two forms: autosomal dominant, hyperplastic and autosomal recessive, polydysplastic.

Clinic. In the first form, the bubbles are located under the epidermis, and in the second, on the dermoepidermal border, between the basal layer and the collagen layer of the upper dermis. The disease is more difficult, it is diagnosed even at the birth of a child or immediately after that. Blisters that appear spontaneously or after minor trauma cover most of the skin and mucous membranes, skin appendages dystrophically change up to anonychia and atrichosis. Due to the fusion of the edges of the eroded areas of the skin on the fingers, contractures, deformations are formed, and early disability occurs. Recurrent erosions of the mucous membranes cause stenosis and atresia of the natural orifices and the esophagus. Around the hyperpigmented atrophic scars, pseudomiliums appear - epidermal cysts - whitish punctate rashes. Nikolsky's symptom is positive. In children suffering from epidermolysis bullosa, there is a lag in general development, a tendency to intercurrent diseases. Along with clinical signs, dystrophic changes in the teeth, ichthyosis, poikiloderma, porphinuria, increased sensitivity to light are detected, and at an older age, malignant degeneration of the skin.

In the differential diagnostic relation, it is always necessary to keep in mind impetigo bullosa neonatorum, pemphigus syphiliticus.

Treatment is symptomatic to avoid infection and contracture of the fingers.

Morbus Pringle Bourneville - Pringle disease - Bourneville. Along with tuberous sclerosis of glia and changes in the visceral organs as a result of the growth of tumors, adenomas of the sebaceous glands, small nodular papules of a yellowish-brown or pink color, located near the nose and mouth, are found on the skin of the face. On the lips and mucous membranes, fibroid-like formations, hypertrophic gingivitis and warty changes in the tongue are found. The so-called. Koepep tumors, which are fibroids located around and under the nails.

Morbus Reckleinghaiseii - Recklinghausen disease ... This systemic ectodermatosis, which begins in childhood, is mainly characterized by three types of skin changes: freckle-like or larger age spots: soft tumors of various sizes, painless, gradually protruding above the surface of the skin, sometimes on legs, with a soft base in which they can flow like a hernia. The third type is dense superficial or deeply located tumor-like formations that can undergo malignant transformation, located along the peripheral nerves. Itchy formations may appear on the mucous membrane of the nasopharynx and conjunctiva.

Cutis laxa s. Hyperplastica, Eller-Danlos syndrome. It is a relatively rare connective tissue disorder that is inherited in an autosomal dominant manner. It is characterized by increased elasticity of the skin, which can be pulled back, forming large folds from the underlying tissues, hyperextension of the joints and the appearance of frequent subcutaneous hemorrhages. Comedones, depigmented spots, and lipomas are common. The disease can be combined with other ectodermal dystrophies. The disease after birth progresses to a certain limit and then remains stationary.

Treatment is symptomatic, most often associated with hemorrhages.

Pigment incontinence (Incontinentia pigmenti, Bloch-Sulz-berger disease).

The disease, which is probably inherited by an autosomal dominant gene, is more common in girls.

Clinic. Skin changes exist even at the birth of a child or appear in the first weeks of their life, but no later than two months. It is characterized by three successive stages, characterized at the beginning of inflammatory erythema and the appearance of vesicles located in groups or linearly, in the form of stripes. The phenomena resemble eczema or pyoderma and persist for 1 to 3 months. Then verrucous-papular rashes appear, most often covering the limbs, and the process ends with the appearance of peculiar hyperpigmented spots in the form of "dirty splashes" as a result of the accumulation of melanin in dermal melanocytes. The spots can be found simultaneously with verrucous lesions and they remain on the skin for several years. and then disappear.

Incontinentio pigmenti can be associated with dental abnormalities, eye defects, epilepsy and mental retardation.

Differential diagnosis is carried out with dermatitis herpetiformis, epidermolysis bullosa hereditaria.

The prognosis of the disease is good. Before the onset of puberty, pigmentation disappears.

No treatment is necessary.

XERODERMA PIGMENTOSUM

A relatively rare disease transmitted by an autosomal recessive gene and associated with a deficiency of enzymes during DNA reproduction under the influence of exposure to sunlight.

Clinic. The disease begins to appear in the first three years of life in open areas of the body that are exposed to solar radiation. In these places, transient erythema and large blisters appear, after which they turn into age spots and atrophic scars, which persist in winter. Gradually, the skin becomes dry, acquires a variegated color due to the presence of many pigmented spots, atrophic scars and telangiectasias. Later, in the 10th year of life, warty-papillomatous rashes appear in the affected areas, on which basocellular or spinocellular carcinoma very often develops. As a result of complications occur: narrowing of the mouth opening, thinning and destruction of the nose, auricles, ectropion, but the general condition remains good. You can observe photophobia, hematoporphyria.

Differential diagnosis is carried out with Hydroa vacciniformis, prurigo aestivalis.

The prognosis of the disease is unfavorable. Dispensary observation and protection from solar radiation are considered mandatory.

Treatment - internal treatment is carried out with corticosteroids, resoquin, vitamin A; local - photoprotective creams.

Ephelides.Light brown or dark gray, small, pinhead-sized specks scattered over the face, especially the nose, cheekbones and forehead in children with blond and red hair. In early spring and summer, after exposure to the sun, they become more clearly visible, and in winter they turn pale. Freckles are caused by local accumulation of melanin in melanocytes.

Differential diagnosis is carried out to differentiate from xeroderma pigmentosum.

Treatment. Protection from sunlight by using photoprotective creams.

Lentiginosis pjuriorificialis ( Piotz-Egers syndrome).A family disease manifested by the appearance of specific spots located on the skin around the natural openings - the mouth, nose, eyes and on the mucous membranes - the buccal surface of the oral cavity and the soft palate, in combination with intestinal polyposis.

Vitiligo.The etiology of this disease is unknown, in some cases a family predisposition is established. Histological examination reveals the absence of pigment granules and melanocytes in the affected areas of the skin.

Clinic. This disease is characterized by the presence of achromic spots of various sizes on the skin and scalp, which often progress in paroxysms or remain unchanged for a long time. Sometimes the spots are surrounded by a hyperpigmented area. In some cases, the onset of the disease is preceded by psycho-traumatic experiences. These changes were also observed in thyrotoxicosis and Addison's disease, chronic focal infection, etc.

Differential diagnosis is made with Pityriasis versicolor and postlesional leukoderma.

Treatment. There is still no sufficiently effective treatment. Prolonged exposure to the sun (for 6-8 hours a day) leads to the appearance of foci of repigmentation in areas affected by vitiligo. General and local photosensitizing agents are used: meladinin, psoralen, xanthorin, bergamot oil.

Albinismus.It is inherited in an autosomal recessive way. In cases with partial albinism, the eyes remain unaffected and the disease is inherited in an autosomal dominant manner. Albinism is explained by the reduced ability of melanocytes to produce melanin, probably due to a defect in the metabolism of tyrosine. Clinical signs are complete absence of pigment in the skin, hair and eyes. In persons of the white race, the iris is red, and in other races, it is blue. At the same time, one can observe the presence of photophobia, refractive disorders, pathological nystagmus, and lag in physical and psychomotor development. The disease can be accompanied by increased sensitivity to sunlight, a tendency to form verrucous lesions on the skin with a tendency to their malignant degeneration in areas exposed to sunlight.

The forecast is good in northern and temperate climates and more difficult in the tropics.

Treatment - photoprotective agents.

Clinical Pediatrics Edited by prof. Br. Bratinova

Developmental defects persistent morphological changes in an organ, system or organism that go beyond the variations in their structure and arise in utero as a result of impaired development of the embryo or (much less often) after the birth of a child as a result of a violation of the further formation of organs. Malformations include aplasia, congenital hypoplasia and hyperplasia, heterotopia, heteroplasia, ectopia. Depending on the etiology, all P. p. divided into resulting from gene mutations (monomutant malformations); chromosomal and genomic mutations (chromosomal syndromes); the combined effect of gene mutations and factors external to the embryo of the environment (multifactorial malformations); teratogenic factors (a group of blastopathies, embryopathies and fetopathies).

There is no single classification and any successful definition skin defects and this is not surprising, since most skin diseases are in one way or another genetically determined and can be attributed to developmental defects. In the International Classification of Diseases 10 revision, there is also no clear sequence in the approach to the classification of these diseases.

International classification of diseases 10th revision (ICD-10)

Class 17 Congenital malformations [blood defects], deformities and chromosomal abnormalities

Q80-Q89 Other congenital malformations [malformations]

Q80 Congenital ichthyosis

• Q80.0 Ichthyosis simple
• Q80.1 X-linked ichthyosis [X-linked ichthyosis]
• Q80.2 Lamellar [laminar] ichthyosis
• Q80.3 Congenital bullous ichthyosiform erythroderma
• Q80.4 Fetal ichthyosis ["Harlequin fruit"]
• Q80.8 Other congenital ichthyosis
• Q80.9 Congenital ichthyosis, unspecified

Q81 Epidermolysis bullosa

• Q81.0 Epidermolysis bullous simple
• Q81.1 Epidermolysis bullosa lethal
• Q81.2 Bullous dystrophic epidermolysis
• Q81.8 Other epidermolysis bullosa
• Q81.9 Epidermolysis bullosa, unspecified

Q82 Other congenital malformations of the skin

• Q82.0 Hereditary lymphedema
• Q82.1 Pigment xeroderma
• Q82.2 Mastocytosis
• Q82.3 Pigment incontinence
• Q82.4 Ectodermal dysplasia, anhydrotic
• Q82.5 Congenital non-neoplastic nevus (fiery, port wine, blood red, cavernous, vascular, warty)
• Q82.8 Other specified congenital skin abnormalities

Abnormal palmar folds
Additional skin marks
Benign familial pemphigus (Hailey-Hailey disease)
Flabby skin (hyperelastic)
Dermatoglyphic abnormalities
Hereditary keratosis of the palms and feet
Follicular keratosis [Daria-Chaita]

· Q82.9 Congenital malformation of skin, unspecified

Q84 Other congenital malformations of outer integument

• Q84.0 Congenital alopecia
• Q84.1 Congenital morphological disorders of hair, not elsewhere classified

o Beaded hair

o Knotted hair

o Ring hair

• Q84.2 Other congenital hair abnormalities
• Hypertrichosis
• Surviving vellus hair
• Q84.3 Anonychia
• Q84.4 Congenital leukonychia
• Q84.5 Enlarged and hypertrophied nails
• Congenital nail loss
• Pachyonychia
• Q84.6 Other congenital nail abnormalities
• Club nails
• Congenital koilonychia
• Q84.8 Other congenital anomalies of the outer integument
• Congenital skin aplasia
• Q84.9 Malformation of outer integument, unspecified

Q85 Phakomatoses, not elsewhere classified

• Q85.0 Neurofibromatosis, non-malignant
• Q85.1 Tuberous sclerosis
• Bourneville disease
• Epiloia
• Q85.8 Other phakomatoses, not elsewhere classified

o Syndromes:

• Peitz-Jeghers
• Sturge-Weber
• Hippel-Lindau
• Q85.9 Phakomatosis, unspecified

Let us consider some of the malformations of the skin and its appendages indicated in the ICD.

Congenital ichthyosis

Ichthyosis congenita is transmitted in an autosomal recessive manner with a frequency of 1: 300,000 and is characterized by impaired horn formation. On the skin, a layer of horny masses tightly adhered to the underlying layers of the epidermis forms, which are difficult to remove when scraping. Some patients have deformities and deformities in the form of a cleft of the upper lip, jaw, hard and soft palate, incomplete opening of the eye slits, deformation of the auricles, the presence of a sixth finger, absence of nails and hair. The course of the disease is chronic, monotonous without a tendency to improve. The combination of keratitis leading to loss of vision, ichthyosis, deafness and other malformations is described in the literature under the name KID (KID) -syndrome (from the first letters of the words: Keratitis. Ichthyosis, Deafness). In this syndrome, there is a congenital defect in the nervous system and a deficiency of cellular immunity.

Patients with congenital ichthyosis become disabled from early childhood and require constant outside help to ensure their life. They realize their condition early, considering themselves to be inferior people, which in the future often leads to neurotic, hypochondriacal states with the possibility of suicidal attempts. There are several clinical forms of congenital ichthyosis, the main of which are congenital lamellar ichthyosis and congenital ichthyosiform erythroderma (dry and bullous forms). Depending on the time of development and the severity of the course of congenital lamellar ichthyosis, very severe (fetal) and lightweight forms are distinguished.

At fetal type of congenital lamellar ichthyosis sometimes there may be a dead fetus, in other cases premature, severely weakened children are born, sometimes with a lack of a swallowing reflex, difficulty breathing. The defeat of the skin is universal in the form of erythroderma. The child will be born, as it were, covered with a colloidal film (Collodium Babu , Harlequin fruit),

consisting of massive horny layers, between which there are deep, often bleeding cracks. The auricles are deformed, the eyelids are twisted, the nose is flattened, the mouth is open and resembles a “fish mouth”. Sometimes the eyelids and ears are missing. The mouth, nose and ears are filled with powerful layers of corneous scale-crusts, which quickly reappear after removal. There are sometimes bridges between the fingers and toes. The skin of the face is taut, there is no facial expression. Deep radial cracks appear around the mouth. The extremities are edematous, almost immobile, covered with layers of horny masses. Such children, as a rule, die in the first hours or days of life.

Facilitated form of congenital lamellar ichthyosis compatible with life. Symptoms of the disease are present at birth, although in some children they may appear after birth. The condition of the patients at birth is severe. The lesion of the skin is universal in the form of erythroderma, more pronounced in the folds. On the entire surface of the skin, there is a layering of massive lamellar parchment-like scales, tightly adhered to the underlying layers of the epidermis and difficult to remove. The face is mask-like, there are eversion of the eyelids, deformation of the auricles, keratoderma of the palms and soles, thickening of the skin of large folds, in which bleeding cracks easily occur, hair and nails may be missing.

Such children are weakened, develop poorly, do not gain weight. Sometimes they are emaciated, anemic. Diseases of the upper respiratory tract, pneumonia, otitis media, candidal and staphylococcal skin lesions often join. Keratoconjunctivitis with corneal opacity, retinitis pigmentosa, glaucoma, strabismus, astigmatism, osteoporosis, arachnodactyly, equine foot, syndactylism, osteolysis, microcephaly can be observed. In the pathogenesis of the disease, congenital immunodeficiency of both the cellular and humoral links, as well as the deficiency of vitamins A and E, are of primary importance.

A type of congenital ichthyosis is congenital Broca's ichthyosiform erythroderma, described in 1902. In this form, large folds are most affected. Distinguish between dry and bullous types of the disease.

The dry type of congenital ichthyosiform erythroderma clinically differs little from the manifestations of the lighter type of lamellar congenital ichthyosis. However, with the dry type, there is always a very pronounced lesion of the skin of large folds, neck, back of the hands and feet, and more massive layers of horny masses on the palms and soles.

Bullous type of ichthyosiform erythroderma described by P.V. Nikolsky in 1899 under the name of congenital universal acanthokeratolysis. This form of the disease is now also called epidermolytic hyperkeratosis and is considered as a combination of ichthyosis with epidermolysis bullosa. The disease is inherited in an autosomal dominant manner. With him, violations in the HLA system at the AW31 locus were established. Dermatosis is detected in a child already at birth. The skin is hyperemic, covered with layers of horny scales of a linear or rhomboid shape, which is most pronounced in the folds, on the back of the hands and feet, on the neck, where cracks sometimes form. Horny scales have a dirty gray color with a greenish tinge. Along with the indicated phenomena of hyperkeratosis, bubbles are observed. After large blisters have been destroyed due to the presence of erosions and brightly hyperemic skin around, the child looks “scalded”. The eruption of bubbles is always accompanied by a violation of the general condition of the child and an increase in temperature. In the area of ​​the palms and soles, keratoderma is noted. Increased growth of nails and hair is observed. As a rule, there are no other deformations and deformities.

In addition, there are rare varieties of congenital ichthyosis called Refsum, Rud, Sjogren-Larsson, Netherton syndromes.

For Refsum syndrome characterized by ichthyosiform erythroderma in combination with eye damage in the form of retinitis pigmentosa with hemeralopia, chronic poly-neuropathy manifested by progressive paresis of the distal parts of the body, weakening or absence of reflexes, an increase in the amount of cerebrospinal fluid with normal cytosis, symmetric dysplasia of the joints, various ECG changes.

At ore syndrome congenital ichthyosiform erythroderma, total alopecia, infantilism, dwarfism, delayed sexual development, neuropsychiatric disorders in the form of mental retardation, idiocy, epilepsy, polyneuritis, muscle atrophy, retinitis pigmentosa, anemia of the pernicious type are noted.

Sjogren-Larsson syndrome characterized by congenital ichthyosiform erythroderma, spastic paralysis of the lower extremities, degeneration of the retina, significant weakening of vision, oligophrenia.

Netherton's syndrome manifested by congenital ichthyosiform erythroderma, dryness and brittleness of hair, eyebrows and eyelashes (microscopic examination reveals nodular thickenings, as a result of which the hair resembles bamboo). Urticaria or angioedema often develops.

Diagnosis. Recognizing congenital ichthyosis is often difficult for both pediatricians and dermatologists. Correct diagnosis is based on the presence of all manifestations of the disease already at the birth of a child or shortly after it and on the phenomena of erythroderma with layers of difficult-to-remove horny plates. The differential diagnosis is carried out with Leiner's desquamative erythrodermpea, Ritter's exfoliative dermatitis, congenital syphilis (diffuse papular infiltration), congenital epidermolysis bullosa.

Treatment Since 1965, in the skin clinic of the Leningrad Pediatric Medical Institute under the leadership of L.A. Steinlukht, the development of a methodology for the complex treatment of congenital ichthyosis in newborn children began, which we continued to improve in the future. Currently, this therapy boils down to the following.

After the diagnosis is established in the maternity hospital, depending on the severity of the general condition of the child, the severity of changes in the skin, based on his vital potencies, one of the glucocorticoid hormones is prescribed immediately from the first days of life. Prednisolone, urbazone, triamcinolone (polcortolone, kenalog) give 1.5-3 mg / kg of body weight per day (based on prednisolone). The daily dose of the drug is given in two doses: in the morning (at 8 o'clock) and in the afternoon (at 14-15 o'clock) after feeding (2/3 of the drug dose is administered in the morning intake). For children who have difficulty swallowing or it is impossible, the drug is given parenterally. Potassium preparations are also prescribed - 5% chloride or 5% acetate 1/2 teaspoon 3 times a day (in milk) and anabolic steroids (nerobol, retabolil).

The duration of administration of the maximum dose of glucocorticoid drugs is 1-1.5 months and depends on the severity of the disease, the general condition of the child, the dynamics of the course of the skin process, kinetic and biochemical parameters of blood (total protein, protein fractions, blood sugar, prothrombin, electrolytes) and urine. Reducing the dose of glucocorticoids is carried out by 1 mg every 3-5 days for 3-4-6 weeks. The total duration of therapy for patients with congenital ichthyosis is about 50 days, and in severe forms - 70-80 and even 100 days.

The complex of treatment includes intravenous infusions of protein preparations: 10% albumin solution, native fresh plasma (tested for transaminase levels). With severe anemia, canned blood is administered at the rate of 8-10 ml / kg of weight. Infusion of protein preparations should be alternated with intravenous administration of 5% glucose solution, saline solutions with the addition of 1 ml of 5% ascorbic acid solution, 25 mg of cocarboxylase. The infusion of protein preparations and solutions is carried out after 1 day. In the nose (in each nostril), 1 drop of a 3.44% oil solution of retinol acetate is instilled, and in the presence of ectropion, 1 drop into the palpebral fissure. A 1% solution of pyridoxine is injected intramuscularly, 0.2-0.3 ml and 15 μg of vitamin B12 after 2 days.

Breastfeeding mothers are given 50,000 IU of retinol acetate solution 1 time per day with meals, and multivitamins are also prescribed internally.

Newborns with congenital ichthyosis require particularly careful care. They should be kept in an incubator that maintains a constant temperature of 36-37 ° C. If swallowing is impaired, feeding is carried out through a tube. The linen must be sterile. Due to the reduced protective function of the skin, such children are given daily baths with the addition of potassium permanganate 1: 15000 to the water (avoid hypothermia!). The skin is treated with softening creams ("Spermacetic", "Lanolin" with the addition of oil solutions of vitamins A and E), vegetable oils (peach, apricot, olive). For maceration of folds, 1% aqueous solutions of aniline dyes, ointments containing 2% naphthalan and ichthyol or ointments with glucocorticoid hormones are used.

If necessary (the addition of a pyococcal skin infection, otitis media, pneumonia, pyelonephritis), the child is prescribed antibiotic therapy (parenteral antibiotics are administered). It is advisable to use conventional (measles) gamma globulin 1/2 person-dose per injection after 2 days. A total of 5-6 person doses are administered. An oily solution of vitamin E, 100 mg per day, is also prescribed.

It is necessary to emphasize once again that glucocorticoid therapy of newborn children suffering from congenital ichthyosis is effective only if it is prescribed from the first days, and better even from the first hours of a sick child's life. The treatment started after 12-14 days of life according to this scheme is practically ineffectual. Therefore, for older children suffering from congenital ichthyosis, treatment with glucocorticoid hormones is contraindicated, since not only does it not give an effect, but it is also not indifferent to the developing child's body and is even dangerous because of the possible side effects of these drugs.

Treatment of older children should, therefore, be carried out by the appointment of vitamins A and E in long cycles, hygienic baths, exfoliating ointments. Eroded skin areas are treated with alazol - an aerosol containing sea buckthorn oil and chloramphenicol.

In recent years, in two patients, we have observed a very positive effect from the oral administration of an aromatic retinoid - tigazone. Since the discontinuation of the drug caused a relapse of the disease, the permanent use of tigazone in maintenance doses is necessary.

The prognosis depends on the severity of the disease and the timeliness of starting treatment with glucocorticoid hormones. In the majority of patients who received this therapy from the first days and hours of life, the manifestations of congenital ichthyosis were resolved, the mental and physical development of children did not differ from their peers during long follow-up periods (from 10 to 20 years).

Congenital epidermolysis bullosa

There are simple and dystrophic forms of this dermatosis.

Simple congenital epidermolysis bullosa described in 1886 by Kebner. It is characterized by an autosomal dominant mode of inheritance with a frequency of 1: 50,000. There are observations of the transmission of this dermatosis in 8 consecutive generations.

The disease begins at birth or soon after. In places subject to mechanical irritation (friction, pressure, bruising), thin-walled blisters from a pea to a walnut in size appear, with serous contents. There are no inflammatory changes in the circumference of the blisters. They are located in the area of ​​the knee, elbow joints, ankles, hands, scalp.

For newborns with any type of congenital apidermolysis, it is typical that the very act of childbirth is the first mechanical injury that leads to the appearance of bubbles in the child in places that are in close contact with the mother's birth canal (head, limbs, buttocks, etc.).

After independent (or artificial) opening of the bubbles, the resulting erosions heal quickly without atrophy and scars, but with temporary pigmentation. Nikolsky's symptom is negative. Very rarely (in 2-3% of patients) there is a lesion of the mucous membranes. The nail plates do not change. In 25% of patients, palmar-plantar hyperhidrosis is detected. The general condition of the patients is not disturbed. The course of the disease is mild, especially in girls. The child's mental and physical development is not lagging behind. An exacerbation of the disease is observed during periods when the child begins to crawl, and then - to walk, as well as after warm baths and in the summer. Remissions occur in winter and become more frequent by puberty.

Localized, or summer, form of simple epidermolysis ( Weber-Cockayne syndrome) begins in the 1st or 2nd year of life, sometimes in adolescence, is transmitted in an autosomal dominant manner. Blisters are localized exclusively on the palms and soles, their tires are thicker, the contents are serous, often serous-hemorrhagic. Hyperhidrosis of the palms and soles is often detected. Exacerbations are observed only in the hot season, after warm baths, while wearing warm shoes.

Dystrophic congenital epidermolysis bullosa

Hyperplastic the species is transmitted in an autosomal dominant manner. The disease is noted from birth or after a few days. Blisters occasionally occur spontaneously, and usually occur with minor mechanical irritation. For example, even when the child himself hits a toy-trinket several times in the same area (knees, feet, hands, abdomen), after a few hours, hyperemia appears, and then bubbles with serous or serous-hemorrhagic contents, after the healing of which, scarring may remain. atrophy. Nikolsky's symptom is negative. On the mucous membranes, leukoplakia is often visible. The general condition is not disturbed, mental and physical development does not suffer. Hair and teeth do not change. Some children have dry skin, hyperkeratosis and hyperhidrosis of the palms and soles.

The prognosis is favorable, the course of the disease improves significantly with the onset of puberty.

Polydysplastic a type of dystrophic epidermolysis bullosa is inherited in an autosomal recessive manner and is one of the most severe forms among all epidermolysis bullosa. The disease begins at birth in the form of widespread blisters on the skin and mucous membranes, which in large numbers can appear not only after injury, but also spontaneously. They have serous, but more often hemorrhagic contents. After opening, slowly healing erosions and ulcers are formed. Lesions are localized not only on the limbs, but also in other places, sometimes capturing significant surfaces (back, chest, abdomen, limbs). Nikolsky's symptom is positive. Significant itching is often noted. The nail plates atrophy very quickly and disappear altogether. The repeated formation of blisters and ulcers with their subsequent scarring leads to the formation of contractures, and sometimes mutations, when disfigured stumps remain instead of hands or feet. Epithelial cysts (milia) are visible on the scars.

Various dysplasias are often observed in the form of xeroderma, hypotrichosis, acrocyanosis, epidocrinopathies, and dental anomalies (which are prone to rapid caries). Often there are severe lesions of the mucous membranes of the oral cavity, cicatricial shortening of the frenum of the tongue, lesions of the larynx, bronchi, esophagus, anus, leading to stenosis, scarring, and sometimes to perforations.

Ulcers of the small intestine, colon, gallbladder, stenosis of the urinary tract, causing urinary retention, bladder hypertrophy, and hypernephrosis may occur. Possible adhesions of the conjunctiva (sinblefaron), erosion of the cornea of ​​the eyes.

The general condition of patients is severe, fatness is sometimes sharply reduced, there is anemia, a significant lag in physical, and in some children, mental development. Reduced resistance to infections (any type of epidermolysis bullosa is often complicated by secondary pyococcal infection). Sometimes pyelonephritis or glomerulonephritis develops. The most severe complication is secondary amyloidosis with predominant kidney damage, leading to disability and eventually death - in puberty or after it.

Malignant ( lethal) form of congenital epidermolysis bullosa was described by the Danish pediatrician Goerlitz in 1935. It is transmitted autosomal recessively and manifests itself at birth in the form of widespread hemorrhagic blisters on the skin, mucous membranes of the mouth, genitals, in the trachea, bronchi of the esophagus, stomach and intestines. The bubbles quickly merge with each other, and after their opening, painful, poorly healing, bleeding ulcerative-necrotic foci remain on the skin and mucous membranes. Nikolsky's symptom is positive. There are no scars and milia. Congenital dystrophies of nails, atrophic changes in the skeleton are noted. The course of the disease is very severe, quickly complicated by pyococcal infection, sepsis and ends fatally in the first months of a child's life.

For the purpose of prenatal diagnosis of genodermatosis, methods of fetoscopic skin biopsy with subsequent light, and especially ultramicroscopic, research have been developed in recent years. A biochemical marker of recessive dystrophic epidermolysis bullosa is an increase in the activity of collagenase in fetal skin biopsies - 3.5 times higher than in healthy cells.

Pathogenesis congenital epidermolysis bullosa is not well understood. A certain role in its development is assigned to the appearance of desmosomal defects in the dermis, increased synthesis and high activity of collagenase, which leads to the destruction of collagen; in case of mechanical injury, it is activated from its proenzyme. Collagenase changes are genetic in nature. In addition, in the blood serum of patients, an increased level of a proteolytic enzyme, chymotrypsin, is detected, which, by disrupting the integrity of the basement membrane, contributes to the formation of blisters. It is believed that chymotrypsin can be secreted by Langerhans cells, or lymphocytes and keratinocytes. In epidermolysis bullosa of the Weber-Cockayne type, a decrease in cellular immunity was found with a quantitatively unchanged humoral immunity.

Treatment due to the lack of specific methods, it is very difficult. The focus is on injury prevention and secondary infection prevention. In the period of neonatal and early childhood, when the immune mechanisms are not yet mature enough, it is especially important to prevent the development of sepsis and to promptly and adequately treat it. Breastfeeding of the baby is necessary.

In severe forms of epidermolysis bullosa, glucocorticoid hormones are most effective in preventing blistering. Prescribing corticosteroids can be life-saving for children with lethal disease. For such children, prednisone is first used - up to 40-60 mg per day, after improvement of the condition, the dose of the drug is gradually reduced until it is completely canceled. Anabolic agents (nerobol, nerobolil), parenteral administration of broad-spectrum antibiotics, infusion of albumin, plasma are also prescribed.

With exacerbations of polydysplastic and hyperplastic forms of epidermolysis, only short courses of glucocorticoid hormones are advisable at the rate of 1-2 mg / kg (based on prednisolone) orally for 10-15 days, followed by a gradual dose reduction until the drug is completely discontinued. The use of relatively small doses of prednisolone is effective in the prevention of blisters on the mucous membranes, esophageal strictures, syndactyly, ocular and dental complications.

It is necessary to systematically monitor the state of the blood in order to detect and treat anemia in a timely manner. To prevent the formation of contractures, it is important to provide full range of motion in all joints. In order to eliminate gingival hyperplasia, the child should be taught to rinse the mouth regularly.

In many patients, especially with the hyperplastic form of epidermolysis, a favorable effect is observed when prescribing repeated courses (2-3 months with an interval of 2-3 weeks) of tocopherol acetate, which restores the normal structure of collagen and elastic fibers of the dermis. For the purpose of immunocorrective and general strengthening effects, sodium nucleinate, metacil, plasma infusions, hemodesis, repeated courses of 10-12 injections of gamma globulin, vitamins A, C, B1, D, rutin, nicotinic acid, pyridoxine, vitamin B12, calcium pantothenate and pangamat, iron preparations. A. V. Smirnov (1986) obtained an improvement in the clinical course of the polydysplastic form of epidermolysis bullosa in two children (2 years and 6 years old) with intramuscular injection of solcoseryl 2 ml daily for 10 days.

In dystrophic forms of the disease, the drug cyanidalone-3, which is a derivative of flavones and belongs to membrane stabilizers, is being studied. When using it, a calmer course of the disease was noted, the formation of blisters decreased, erosion healed better, which prevented the appearance of esophageal strictures, mutilations and syndactyly. This preparation in vitro increases the resistance of collagen against the effects of collagenase.

External therapy: emerging bubbles must be opened in two places with a sterile needle, lubricate the tires with a 1-2% aqueous solution of aniline dye (fuchsin, eosin, brilliant green, methylene blue). Use lotions with tea, grease the crusts with olive oil. On erosion and ulcers, iruksol ointment, solcoseryl ointment, dermatol (3-5%), heliomycin ointment are regularly used, oily solutions of vitamins A, E, D are applied, mixed in equal proportions. Ointments, creams and aerosols containing glucocorticoid hormones, antibiotics, and sea buckthorn are also prescribed. You should, if possible, avoid the use of bandages and sticking a plaster, to prevent friction, injury to the skin. General therapeutic baths with decoctions of oak bark, viburnum, chamomile, string, as well as with a solution of potassium permanganate, zinc sulfate and baths with the addition of olive oil have a good effect.

Effectively general UV: by reducing the activity of Langerhans cells, it reduces their production of chymotrypsin (its level in the blood plasma is significantly reduced), which prevents the formation of bubbles.

When washing a child, mechanical injury to the skin must be avoided. For clothes and shoes, use soft materials, avoid hot and solid foods. Successful orthopedic reconstruction of crippled hands is now possible.

Children with epidermolysis bullosa. especially severe forms, should be under the dispensary supervision of a dermatologist, pediatrician, orthopedist and periodically receive complex treatment in a hospital.

Primary (congenital) lymphedema.

It is caused by congenital pathology of the lymphatic vessels. As a rule, it develops in childhood and adolescence (80% of patients are girls under the age of 18). It often affects the lower extremities, less often the upper ones. It is usually bilateral. In 6% of cases, congenital lymphedema is caused by a hereditary disease (Nonne-Milroy syndrome, Meija syndrome). In the remaining 94% of patients, primary lymphedema develops due to congenital aplasia or hypoplasia of the lymphatic vessels. Compensated primary lymphedema often progresses rapidly after pregnancy or injury. Congenital lymphedema initially affects the distal extremities (feet or hands). Patients develop painless, dense swelling of the fingers, extending to the foot and ankle joint (in case of damage to the upper limb, to the hand and wrist joint). As lymphedema progresses, the edema spreads to the lower leg and thigh. The patient's legs become like columns. In the area of ​​the joints, folds of swollen soft tissues form over time. The folds on the back of the foot are not pronounced. The skin resembles an orange peel. Patients with lymphedema are seen by phlebologists and vascular surgeons.

Pigment xeroderma

Pigment xeroderma (xeroderma pigmentosum; Greek xeros dry + derma skin; synonym: progressive reticular melanosis, Pica progressive reticular melanosis) is an inherited skin disease characterized by its increased sensitivity to ultraviolet radiation; is an obligate precancerous skin. It is rare, inherited in an autosomal dominant manner. The genetic defect consists in the absence or low activity of endo- and exonuclease-polymerases, which repair damage to the DNA of skin cells caused by UV radiation. At K. p. Two types of genotype disorders are known: insufficiency of the UV-endonuclease enzyme, which isolates DNA regions damaged by UV radiation, and a defect of the DNA polymerase enzyme, which participates in the reunification of DNA breaks. In the latter case, patients also have an increased sensitivity of the skin to ionizing radiation. Such an enzymatic defect leads to a violation of skin pigmentation, keratinization, atrophic changes in the epidermis and dystrophy of the connective tissue, in the final stage - to cellular atypia and malignant growth.

In the clinical picture of the disease, regardless of the genotype, three stages are distinguished. The first stage usually appears in the 2-3rd year of life (rarely later) in the spring-summer period, after exposure to the sun. There is a persistent inflammatory reaction of the skin in open areas of the body (face, neck, hands, forearms). It is characterized by erythema, peeling of the skin with the subsequent development of uneven hyperpigmentation like lentigo , freckles. Each subsequent exposure to the sun intensifies these processes. A few years later, the second stage is clearly revealed, in which areas of skin atrophy of various shapes and sizes, telangiectasia in combination with uneven pigmentation of the skin give it a variegated appearance - poikiloderma , resembling the clinical picture of chronic radiation dermatitis . In some areas of the skin, warty growths, cracks, crusts, ulcerations can form, eczematization occurs. Atrophic changes in the skin of the face are accompanied by thinning of the cartilage of the nose, auricles, deformation of the natural openings (narrowing of the nasal passages, mouth opening), eversion of the eyelids,

impaired growth, corneal opacity, lacrimation and photophobia. In the third stage of the disease, which usually develops in adolescence, sometimes much earlier, benign and malignant tumors (fibromas, angiomas, keratomas, basaliomas, melanomas) are formed in the lesions. The tendency to malignancy with metastasis to the internal organs of warty lesions is especially pronounced. As a result, 2/3 of patients die before the age of 15 years.

The most severe form of the disease, which is inherited in a recessive type linked to the X chromosome, is xerodermic idiocy (De Sanctis-Kakkne syndrome). In this form of K. of the item, disturbances on the part of the c.ns., insufficient development of the pituitary gland and cerebellum, microcephaly are expressed. Idiocy, paresis, convulsions, coordination and reflex disorders are noted. In addition, growth retardation, sexual development are characteristic, hearing loss, impaired porphyrin metabolism are observed.

The diagnosis is based, as a rule, on the data of the clinical picture (the connection of the process with solar irradiation, the lesion of open skin areas by the type of poikiloderma, followed by malignancy). In the initial period, the disease is differentiated from photodermatosis, poikiloderma.

Treatment at an early stage of the disease is carried out on an outpatient basis by a dermatologist. Assign synthetic antimalarial drugs (for example, hingamin), which counteract DNA depolymerization, reduce the sensitivity of the skin to sunlight; vitamins A, PP, group B; externally recommended corticosteroid ointments, for warty growths - cytostatic. Photoprotective agents with SPF 50+ are also used. With the development of tumors, the patient must be referred to an oncologist. With xerodermic idiocy, treatment is carried out by a neurologist in a specialized hospital.

The prognosis is unfavorable due to the pronounced tendency of the process to malignancy. Primary prevention has not been developed. In order to slow down the progression of the process, patients should be under the dispensary supervision of a dermatologist, oncologist and, if necessary, an ophthalmologist and neuropathologist. Measures to protect from sunlight are important (patients should wear wide-brimmed hats, gloves, use umbrellas, walk on the shady side of the street). When warty growths appear, it is advisable to promptly remove them early in order to avoid malignancy.

Mastocytosis

The first manifestations of mastocytosis occur in 70% of children aged 1 to 12 months, but newborns, as well as older children and adults can also get sick. The disease has stages: progressive stage, stabilization and regressive stage. The progressive stage is characterized by paroxysmal eruptions of spots, papules, blisters of pink-red color, round or oval in shape. Their size is from millet grain to 2 - 3 cm in diameter, sometimes they look like larger plaques. The localization of the rash is the trunk, limbs, scalp, sometimes the face, rarely palms and soles. The mucous membranes are not affected. The child is often restless due to itching.

Pathognomonic for mastocytosis is considered a symptom of Unna-Darrieus, when, when rubbing a spot or papule with a spatula or a finger, or after touching a warm object, redness and swelling of this element soon appear - it acquires a blister-like appearance.

Swelling and swelling of the elements of the rash, sometimes very significant, is observed after washing the child in a warm bath, especially when using a washcloth and even a gentle sponge, which is often accompanied by severe itching.

The Unna-Darier symptom is due to the fact that mechanical or thermal irritation causes a large amount of histamine, heparin, serotonin and hyaluronic acid to escape from the mast cell granules, which causes vasodilatation, increased porosity of their walls, fluid release into the surrounding tissues and increases itching. A reflex appearance of a symptom is possible when, when rubbing one of the elements with a finger, swelling of nearby spots that have not been rubbed appears. This symptom does not appear on healthy skin.

Rashes in a progressive stage may periodically disappear and reappear, which ultimately leads to a darker color of the elements of the rash up to brown and an increase in their number - from single to hundreds.

In the stage of stabilization, which occurs in the 2nd year of life and later, the emergence of new elements of the rash stops. During this period, just as in the progressive stage, only the appearance of puffiness of existing elements is observed after thermal and mechanical irritation, as well as after ultraviolet or solar irradiation.

The regressive stage begins after the age of 6-7 years or by the period of puberty and is characterized by a gradual blanching and sometimes even resolution of the elements.

In infants, mastocytosis is manifested by a more noticeable polymorphism of rashes, among which the most typical are spotty and maculopapular elements, somewhat less often - papules, nodes and blisters. Bullous mastocytosis is usually observed already at the birth of a child in the form of an isolated lesion or is combined with spotty or nodular forms. Nikolsky's symptom is negative. Often there are solitary forms of mastocytosis, when there are 1-2-3 nodes ranging in size from a pea to a 3-5-kopeck coin, in the center of which bubbles periodically appear. This form of mastocytosis in children has a more favorable course: a few months after the onset of the rash, it completely resolves.

Sometimes papules and nodules merge with the formation of significant areas of diffuse infiltration, sometimes completely covering the body of the child, which gives the skin a “quilt” appearance. In these cases, with the slightest mechanical or thermal irritation of the skin, and sometimes spontaneously, the general condition of the child worsens: itching, redness and swelling of the skin increase, anxiety, irritability, tearfulness, tachycardia, headache, gastrointestinal symptoms in the form of anorexia appear, abdominal pain, flatulence, nausea, diarrhea, and sometimes histamine shock develops (as we observed in some children).

Systemic, or skin-visceral, mastocytosis in infants is very rare, it is observed mainly in adults. There is a pronounced itching, a large number of blistery pigmented rashes. Headache and dizziness, arthralgia, enlargement of the liver and spleen appear (up to the development of cirrhosis of these organs). The defeat of the gastrointestinal tract is manifested by nausea, vomiting, abdominal pain, intermittent diarrhea and other phenomena of gastritis, enteritis. These symptoms are observed in 25-50% of patients. There are radiological changes in bones in the form of a limited or diffuse combination of osteosclerosis and osteoporosis. The number of mast cells increases in the bone marrow. There is a painless increase and compaction of the submandibular, behind the ear, axillary, inguinal lymph nodes. Anemia, leukocytosis or leukopenia, lymphocytosis, increased ESR are noted in the blood; increases the level of histamine in plasma and urine. Histological examination reveals diffuse infiltration by mast cells in the affected visceral organs. There are malignant forms of visceral skin mastocytosis, in which, simultaneously with damage to the skin, bones and internal organs, myeloid leukemia and amyloidosis rapidly develop, which leads to a fulminant course of the disease and a rapid death.

Diagnosis of mastocytosis It is placed on the basis of the clinical picture of skin lesions, the presence of Unna-Darier's symptom, the results of a histological examination of the elements of the rash. If necessary, an X-ray examination of the hands is performed, as well as the functional state of the visceral organs.

Histopathology. In the biopsy of the element of mastocytosis in the upper part of the dermis, an infiltrate consisting of mast cells is visible, sometimes capturing the entire thickness of the dermis or penetrating into the subcutaneous fatty tissue. There is a large amount of brown pigment in the basal layer of the epidermis. In the bullous form of mastocytosis, the blisters are located subepidermally.

Etiology and pathogenesis not completely clarified. The prevailing opinion is that mastocytosis of childhood is of a nevoid nature and, possibly, is a hereditary disease transmitted both autosomal dominantly and autosomal recessively. There is an assumption about the connection of this disease with disorders of hematopoiesis. Systemic mastocytosis belongs to the group of reticulosis.

Treatment- symptomatic. With severe itching and the appearance of fresh rashes, one of the antihistamines should be prescribed for 5-7 days - tavegil, suprastin, diazolin, fenkarol, pipolfen, diphenhydramine, cyproheptadine. Some doctors believe that due to the tendency of urticaria pigmentosa in children to spontaneous remissions, its treatment is not indicated, especially since various therapeutic measures have a subtle effect on the course of the disease, with which we fully agree.

Improves the course of cutaneous forms (especially bullous) of mastocytosis in infants cromolyn sodium (intal). It is given orally at 100-300 mg per day. For infants for a long time (up to 15 months). Discontinuation of the drug causes a relapse of the disease in 2-3 weeks, which is stopped by repeated administration of Intal. It also improves the course of mastocytosis in children zaditen (ketotifen), administered orally in the form of syrup at 0.125 ml / kg body weight in 2 doses for 4-6 weeks. The mechanism of action of both drugs is based on the prevention of the release of histamine and other mediators due to the stabilization of the membranes of the skin mast cells and the gastrointestinal tract, which thereby has a symptomatic effect on the course of the disease.

Forecast mostly favorable, since in most children the manifestations of mastocytosis gradually resolve with age. Meanwhile, due to the possibility of transformation of mastocytosis in adults into reticulosis, it is necessary to subject sick children to dispensary observation.

Bloch-Sulzberger syndrome (pigment incontinence)

It is a rare genodermatosis. There are a number of descriptions of this disease in our country. The disease is detected already at the birth of a child or in the first days and weeks of life.

A spontaneous regression of the elements of the rash gradually occurs as the child's age increases, and in adults, residual manifestations of the disease may not occur.

Usually only girls are ill. The ratio of sick boys and girls is 6: 210, the incidence of the disease is 1: 75,000. An autosomal dominant type of transmission with a manifestation limited to the female sex and associated with a gene on the X chromosome is recognized. This gene is lethal for males, which causes spontaneous abortion in mothers. There is an assumption about the effect of a viral infection on the fetus, intrauterine intoxication and allergization.

Clinic. A motley picture of the elements of the rash is characteristic, as a result of which the disease successively passes through 4 stages of development.

Stage I - erythematous vesicular. Spots, blisters, vesicles, blisters, pustules appear, which are located linearly in the form of stripes along the nerve trunks. Localization of the elements of the rash mainly in the area of ​​the lateral surfaces of the body, on the limbs.

Stage II - hypertrophic. Lichenoid, lenticular, warty, hyperkeratotic papules and plaques appear on the infiltrated base, located both symmetrically, linearly, and randomly.

III-pigment stage - characterized by the presence of non-flaky brownish-yellow spots, comparable to splashes of mud or traces of ebb waves.

Stage IV is characterized by areas of depigmentation and mild atrophy. The staging of the elements of the rash is not always preserved.

Sometimes, in the 2nd half of the 1st year of life, against the background of the emerging pigmentation, rashes characteristic of I and II stages reappear. Very characteristic, especially for stages I and II of the disease, eosinophilia (40-50% or more) of peripheral blood. The appendages of the skin may be affected in the form of thinning, breaking off of hair, the appearance of zones of curliness, alopecia, changes in nails that become dull, brownish-brown or grayish in color.

I and II stages of the disease, existing, as a rule, in the first 2-3 months of life, correspond to Asbo-Hansen syndrome, also called “bullous keratogenic eosinophilic dermatitis of girls”.

In some children, the clinical picture of the disease is limited to lesions of the skin and its appendages with a gradual regression, up to their disappearance during puberty. This characterizes the mild course of the disease and does not require special treatment.

The severe course consists in systemic damage, primarily of the nervous system. Microcephaly, hydrocephalus, meningitis, epilepsy, spastic paralysis, oligophrenia, and a delay in the child's physical development are noted. Eyes are affected: uveitis, cataracts, keratitis, retinitis pigmentosa, nystagmus, ptosis, blue sclera, anisocoria, strabismus, myopia, retinal detachment, underdevelopment of the tear-producing apparatus, inflammation of the optic nerve and its atrophy up to blindness. An important sign that makes it possible to establish a retrospective diagnosis in older age and in adults after the disappearance of skin symptoms are tooth abnormalities in the form of changes in the color of enamel, microdentia, diastema, and the absence of individual teeth. There are pathological abnormalities on the part of the skeleton (extra or missing vertebrae and ribs, shortening of the limbs), skull bones. Violations of the visceral organs (kidney anomalies, congenital heart defects) may occur.

One of the characteristic features of the disease in infants, especially in newborns and in the first months of life, is a lack of immunity, which is accompanied by multiple infections of the respiratory, urinary, ENT organs, gastrointestinal tract, and central nervous system. These infections often lead to sepsis and death.

Histopathology. In stage I - spongiosis in the epidermis, the presence of eosinophilic granulocytes; in the dermis - an infiltrate with eosinophils and mononuclear cells. Stage II - acanthosis, papillomatosis, hyperkeratosis, the presence of dyskeratotic cells; in the dermis - an inflammatory infiltrate containing melanophages. In stage III - a decrease in pigment in the cells of the basal layer of the epidermis, which are dystrophically changed, vacuolated. In the dermis, in its upper part, there are massive deposits of melanin in macrophages.

Differential diagnosis it is performed with pyoderma, congenital epidermolysis bullosa, Darier's disease, dermatitis herpetiformis, toxidermia, urticaria, mastocytosis, pigmented and verrucous nevi.

Treatment. There are no specific methods of therapy. In the presence of pyoderma, concomitant infections of the bronchopulmonary system, ENT organs, gastrointestinal tract and other organs, antibacterial therapy with broad-spectrum antibiotics is carried out, gamma globulin injections, albumin, plasma, hemodesis are used. In severe cases, glucocorticoid hormones are prescribed at 0.5-1.0 mg / kg body weight (based on prednisolone) for 2-3 weeks, followed by a gradual dose reduction until complete cancellation. Vitamin therapy is advisable: inside retinol acetate, vitamins of group B (B1, B2, B5, B6), ascorbic acid - in courses for 1-1.5 months, intramuscular aevit 0.5 ml 2 times a week - 1-1.5 month For the prevention of pyoderma, the elements of the rash are lubricated 3-4 times a day with 1-2% aqueous or alcohol solutions of aniline dyes (fuchsin, eosin, brilliant green, methylene blue) and subsequently with glucocorticoid ointments (prednisolone, fluorocort, flucinar, lorinden).

Forecast in milder forms, favorable, spontaneous resolution of rashes is often noted. In severe forms, the prognosis is serious, since the disease can be accompanied by disability from early childhood and early death.

Ectodermal anhydrotic dysplasia (Christ-Siemens-Touraine syndrome)

The anhydrotic form of ectodermal dysplasia is characterized by the following triad of symptoms: hypo- or anhidrosis, hypotrichosis, hypodontia. The skin is thinned and soft, especially around the eyes. Sweating is reduced or less often absent throughout the entire skin, with the exception of localization of the apocrine glands, where it can persist to a greater or lesser extent. Dryness of the skin is significant, somewhat less in the armpits, in the genital area, on the face and mucous membranes, which often leads to the development of conjunctivitis, laryngitis, pharyngitis, rhinitis, stomatitis. A number of patients have ichthyosiform desquamation, follicular hyperkeratosis, palmar-plantar keratoderma. A sharp thinning of hair on the head or alopecia totalis. Eyebrows, and sometimes eyelashes, are sparse, there is little or no hair in the armpits and on the pubis. Fluffy hair usually persists. Teeth erupt late, persist for a long time at the milk stage, may not be in full or even completely absent, often deformed, with large gaps between them. Due to the degeneration of the teeth, the skin around the mouth can have folds that resemble scars in congenital syphilis.

The appearance of patients is characteristic: short stature, a large square skull with a protruding frontal part, a massive chin, eyebrows, high and wide cheekbones, sunken cheeks, protruding lips, large ears (satyr ears), saddle nose. Reed et al. described a combination with acanthosis nigricans.

Among other conditions, a tendency to eczematous reactions, atopic dermatitis and asthma, hypothyroidism, milium-like papular rashes caused by sebaceous-glandular hyperplasia, aplasia of the nipples are described. In women, the disease proceeds in a mitigated form in the form of mild dental anomalies, focal sweating disorders, and poor development of the mammary glands.

Congenital skin aplasia

A developmental defect characterized by a focal defect in the skin. It can be combined with aplasia of deeper tissues (in particular, with various forms of dysraphia - non-closure of embryonic fissures). aplasia skin is the result of fetopathy that occurs when exposed to various adverse factors (viral, bacterial infections, intoxication, intrauterine or birth trauma, etc.). Hereditary forms are possible aplasias with an autosomal dominant or recessive mode of inheritance. Cases of chromosomal abnormalities (trisomy 13 pair, deletion of the short arm of chromosome 4) have been described. There are several types of skin aplasia, depending on its most frequent localization. congenital aplasia of Anderson-Novi skin(Campbell's syndrome) - aplasia the skin of the skull. It is characterized by a skin defect (up to 10 cm in diameter) of a membranous or bullous nature, usually localized in the parietal region, less often in the occipital and posterior auricular regions. In 70% of cases, the focus of aplasia is single, however, the formation of 2-3 lesions is possible, less often more. Membranous foci are usually rounded, devoid of skin, underlying tissues (including bone), and covered with a thin epithelial membrane. Histologically, in the area of ​​the membranous defect, compact collagen is found with a decrease in the number of elastic fibers, the appendages of the skin are absent. Signs of inflammation, necrosis are possible. Bullous lesions are usually detected in fetuses; in a newborn, an ulcerative defect has already formed in the place of the bladder, which heals within a few weeks with the formation of an atrophic scar, in the area of ​​which hair does not grow (cicatricial alopecia). Congenital aplasia the skin of the skull can be combined with congenital hydrocephalus, hemangiomas, polycystic kidney disease, meningocele, cleft palate, microphthalmia, epidermolysis bullosa, etc. Complications are possible in the form of secondary infection, meningitis (when a skin defect is reported with the cerebral cortex), sinus bleeding from sinus. congenital aplasia of the skin Devinka– aplasia skin of the skull, trunk or extremities. It is characterized by areas devoid of skin, tightened with a thin membrane, through which the underlying organs and tissues are clearly visible. A combination with a developmental defect in the form of the absence of limbs is possible. limited aplasia of Freud's skin– aplasia skin of the midline of the body or (symmetrical) limbs. Skin defects are ulcerative in nature, heal slowly with the formation of a scar. Bart's skin aplasia characterized by multiple ulcerative defects in the fontanelle, extremities, mucous membranes. It is currently considered as a variant of epidermolysis bullosa (see). The diagnosis is clinical. The differential diagnosis is carried out with mechanical damage (during childbirth), epidermolysis bullosa, congenital syphilis.

Treatment is aimed at preventing complications of the process by bacterial flora (if necessary, antibiotics are used); externally - epithelizing and disinfecting agents (1-2% solutions of methylene blue or brilliant green, Lassar paste, hyoxysone, etc.).

Congenital alopecia

Alopecia congenita is caused by a developmental defect, which is referred to as ectomesodermal dysplasia. Congenital alopecia can be an independent disease or part of a general pathology in which various defects in the development of nails, teeth, bones, and endocrine organs are observed. These diseases are often familial or hereditary. They are based on the partial or complete absence of sebaceous hair follicles. Congenital alopecia can be caused by genetically determined disorders of the synthesis of amino acids, leading to a violation of keratinization of the hair.

The complete absence of hair in children is extremely rare. Partial or sharp reduction in the amount of hair is much more often observed. In these cases, the hair on the head is thin, short, of unequal length, sparse, some of them are broken off. However, the skin in the areas of thinning hair is not changed. At the same time, a thinning of the eyebrows is noted: short thick hair is replaced with vellus hair. Eyelashes are usually absent or sparse. In the axillary cavities and on the pubis, the hair is sparse, curved, short. On the torso, vellus hair is delicate, sparse. In the area of ​​the chin and cheeks, the amount of vellus hair is slightly higher.

Among congenital alopecia, hypotrichia, which develops in patients with hypoplasia and skin dysplasia, occupies an important place. In addition to changes in the skin, hair, nails, teeth, various anomalies in the development of fingers and mammary glands can be detected in patients. In a number of cases, hypoplasias and dysplasias are associated with nevoid changes and do not appear immediately after birth, but after some time, when anatomical or functional inferiority of a number of systems is revealed, for example, elastic tissue (hyperelastic skin), pigmentation (pigmented xeroderma), impaired growth of the child.

Hypotrichia is observed in Gottron's familial acrogeria, congenital aplasia of the skin, anhydrotic ectodermal dysplasia, Konradi-Hünermann syndrome, Buschke-Fischer keratoderma, Polend's syndrome (syndromus Poland) - a hereditary symptom complex in which anomalies of the development of the chest, shoulder absent, are revealed in the armpit.

Hypertrichosis

Hypertrichosis or hirsutism is detected already at birth in the form of hairiness of the entire skin. As it develops, the hair takes on a woolly appearance and covers the child's face, torso, limbs, with the exception of the palms, soles, foreskin and labia minora. Facial hair grows most rapidly, giving the patient an ugly appearance. Such people were once called "hairy man" or "man-dog". In hypertrichosis, additional hair does not grow, but only the overdevelopment of those hairs that are normally invisible, or subtle fluff, is observed. At the same time, children may experience dental anomalies, spina bifida, sometimes complicated by the caudate process, which is also due to intrauterine developmental defects.

Sometimes hypertrichosis is limited (limbs, face). In older children, especially girls, the disease causes severe mental experiences up to the emergence of obsessions (trichoomania). The disease has an autosomal dominant mode of inheritance.

Treatment in infancy it is not carried out, and in later life - in adolescents and adults, photo and electrolysis is effective.

Monilethrix

Monilethrix; lat. monile necklace + greek. thrix hair; synonym: clear hair aplasia, spindle hair, moniliform hair

hereditary keratosis, manifested by lesions of the skin and hair. It is inherited in an autosomal dominant manner. In pathogenesis, great importance is attached to the disruption of the activity of the endocrine and nervous systems, which are involved in the regulation of nutrition and hair growth.

The clinical picture is characterized by the appearance on the scalp of a child of the first year of life of small nodules with horny spines at the top, located near the mouths of the hair follicles. Gradually, the scalp becomes dry and flaky. Hair as a result of dystrophic changes becomes dry, brittle. devoid of luster. Their length does not reach 2-3 cm... They fall out intensively, forming areas of baldness. Dystrophy of nails, teeth, follicular keratosis of the skin of the trunk are also possible. Sometimes M. can be combined with cataracts (Sabouraud's syndrome), as well as with pituitary insufficiency and narrowing of the visual fields (Rats-Turi syndrome). The course of the disease is chronic, there may be a temporary improvement in the process during puberty.

Microscopic examination of the hair structure resembles a necklace due to the alternation of light and dark areas in the hair shaft. In this case, the light areas look thinned due to the absence of medulla in them, and the dark (normal in structure) thickened.

Treatment is carried out by a dermatologist on an outpatient basis; prescribe vitamins A, E, group B; shows UV irradiation, massage with liquid nitrogen, rubbing in 2% sulfur-salicylic, 5% sulfur-tar ointments.

The prognosis for life is favorable. Prevention has not been developed.

Papillomatous malformation

Synonyms: warty, hyperkeratotic, linear, ichthyosiform, hard, unilateral nevus. The term "papillomatous malformation" belongs to A. K. Apatenko (1973). This disease belongs to the malformations of the epidermis and is listed in the WHO histological classification as hamartomas, which emphasizes its dysembryogenetic origin. Previously, papillomatous malformation was considered as a precancerous disease related to tumors of the superficial epidermis.

The clinical picture is characterized by the appearance, usually already in the first years of life, of warty papillomatous growths, found in almost any area of ​​the skin. In some cases, the appearance of elements of a warty nevus may be preceded by various aggressive exogenous effects on the skin: mechanical trauma, burns of various natures, etc. In such situations, the primary detection of the disease is possible even at a much older age. There are no sex differences in the incidence of papillomatous malformation. There is little evidence of a genetic and hereditary predisposition to the onset of this pathology.

There are two clinical forms of papillomatous malformation: limited and disseminated. In the first variant, the foci of a nevus are single (from one to several) and are limited formations of a dark color (from light gray to brownish brown), moderately rising above the surface of the skin, located on a wide base and having papillary outgrowths on the surface, covered with horny layers. In the second variant, the number of lesions in the form of plaques scattered throughout the body can reach several dozen. There is a certain pattern in the topography of the lesion: the elements are usually located on the trunk segmentally, in the zones of Zakharyin-Ged, or along the nerve trunks and large vessels (linear nevus). Elements do not have a tendency to involution and spontaneous resolution, can exist for years without visible changes or increase in size, more often due to an increase in the thickness of the crusts, less often due to an increase in the area of ​​the neoplasm.

Papillomatous malformation is often combined with other malformations - pigmented nevus, nevus of the sebaceous glands, cysts, diseases of the central nervous system, epilepsy, changes in the structure of the skeleton, etc.

A defect in the development of the epidermis is quite common, which clinically looks like grouped papillomatous elements, often forming clusters of a linear configuration, for which they are often called linear nevi. The number of papillomatous elements, their size, and the degree of pigmentation vary significantly from small focal accumulations to subtotal skin lesions.

With a sufficiently pronounced pigmentation, papillomatous malformations are clinically indistinguishable from a true papillomatous nevus, i.e. containing nevus cells. A purely superficial resemblance is sometimes the reason for excessive caution when deciding on the choice of a method of treatment. In a number of cases, on the surface of papillomatous elements there is an increased hyperkeratosis, which gives rise to some authors to consider this type of papillomatous malformation as a variant of ichthyosiform lesions.

Nevus of the sebaceous glands of Jadasson

Syn .: nevus of the sebaceous glands - a frequent organoid epidermal nevus, caused by proliferation and malformation, primarily of the sebaceous glands, as well as other components of the skin (epithelial cells, hair follicles, connective tissue, apocrine glands). Described by A.N. Mehregan and N. Pinkus in 1965. Is the result of the differentiation of pluripotent cells towards mature sebaceous and apocrine structures; It is the pluripotent nature of these cells that explains the development of other tumors of the skin appendages against its background. Nevus of the sebaceous glands in 2/3 of cases is congenital, can occur in infancy and only sometimes in later childhood. It develops, as a rule, sporadically, although isolated family cases have been described. The gender distribution is the same. Usually, the nevus of the sebaceous glands is located on the scalp (on the border with the neck, in the region of the temple, forehead) or in the central part of the face, rarely in other places.

Clinically, the nevus of the sebaceous glands of Jadasson is manifested by an asymptomatic, solitary, flat, soft, elastic, shiny plaque of an oval or linear shape with a diameter of 0.5 to 9 cm or small hemispherical nodules of pink, yellow, orange or sandy color with a grooved or somewhat papillomatous surface, devoid of hair. Sometimes it can have a keratotic surface.

The three-stage course is due to age-related differentiation of the sebaceous glands: 1) in infants and young children, the elements of the nevus are hairless, smooth or with a delicate papillary surface; 2) in puberty, the lesions become similar to a mulberry berry, because their surface is covered with hemispherical, often warty papules from yellow to dark brown, closely adjacent to each other; 3) in adulthood, in about 20% of cases, benign or malignant tumors develop in the thickness of the nevus, including papillary cystadenoma, hydradenoma, apocrine cystadenoma, keratoacanthoma, infundibuloma, basal cell carcinoma, squamous cell carcinoma, and cancer of the apocrine glands. In particular, basal cell carcinoma against the background of a sebaceous gland nevus develops in 5-20% of cases. Moreover, it occurs much more often than benign skin tumors. The association of benign and malignant skin neoplasms is often noted in one patient. It is important to take into account that, despite the sometimes inherent aggressiveness of histological signs, most skin cancers that developed against the background of a nevus of the sebaceous glands are characterized by a low degree of malignancy and metastasize only in exceptional cases. The possibility of developing malignant neoplasms against the background of a nevus of the sebaceous glands at an early age served as the basis for W. Lever's hypothesis that the development of basalioma against the background of such a nevus is not a malignant transformation, but the result of a decrease in the differentiation of primary epithelial germ cells and a subsequent increase in their proliferative activity. The validity of this assumption is confirmed by the fact that non-associated basal cell carcinomas, despite their development in young patients, are usually small in size and lack of signs of aggression.

Histologically, typical sebaceous gland nevi consist of lobules of mature sebaceous glands in the upper and middle dermis; there is also an increase in the number of other epithelial structures (dilated apocrine sweat glands, abortive hair follicles). There are three stages of the histological development of a nevus. 1. Early stage - manifested by hypoplasia of the sebaceous glands and hair follicles. 2. Mature stage - characterized by acanthosis, papillomatosis of the epidermis, an abundance of hyperplastic sebaceous glands, underdevelopment of hair follicles, good development of apocrine glands. 3. Tumor stage. A rare common sebaceous nevus can be systemic in nature with damage to the central nervous system, eyes, bone, vascular, genitourinary and other systems. A very rare salnogonevus Jadasson syndrome includes the triad of linear sebaceous nevus, epilepsy, and mental retardation.

The differential diagnosis of the nevus of the sebaceous glands of Yadasson is carried out with aplasia of the skin, which is characterized by a smoother papyrus-like surface; syringocystadenomatous papillary nevus, which has a pinker than yellow, nodular rather than velvety surface; early juvenile xanthogranuloma (rapidly developing dome-shaped papule or node) and solitary mastocytoma, which have a characteristic histological structure; hypertrophy of brain tissue or encephalopathy, in which a subcutaneous node can also be determined, but the contents are associated with the brain. Treatment of the nevus of the sebaceous glands of Jadasson. In connection with the threat of malignant transformation, preventive surgical removal of the nevus was adopted no later than the onset of early adolescence. Electrocautery and cryodestruction can lead to relapse.

Hair follicle malformations can have various clinical manifestations. They reflect that stage of the formation of the saw-sebaceous complex, at which the process of normal development was interrupted for any reason. Therefore, the spectrum of these disorders can include both focal cell clusters located deep in the dermis, similar to the embryonic buds of the hair follicle, and fully formed terminal hairs on a limited hyperpigmented area of ​​the hairless surface (Becker's nevus).

Becker's nevus

(synonym: Becker melanosis, pigmented epidermal hair nevus, Becker-Reiter syndrome) is a relatively common epidermal nevus.

It differs in late onset - usually at the age of 10-15 years, predominance in men (5 times more often than in women), which, along with the development of hypertrichosis on its surface, confirms the hypothesis about the important role of androgens in its etiology. Becomes noticeable after sun exposure. Family cases are described. Initially, a pigmented spot of an irregular shape of Becker's nevus appears, usually in the shoulder area, under the mammary glands, on the back, forearm, lower leg, less often in the pelvic area, very rarely on the face and neck. As a rule, the spot is one-sided, located along the Langer lines. The spot gradually increases, the islets of pigmentation formed along the edges merge with the main focus, outside of which new spots appear, which gives it a geographic outline. The element reaches a size of 20 cm or more, acquiring an irregular shape with uneven, jagged borders, an uneven color of yellow-brown or brown. Soon after puberty, the patch is covered with thick, dark hair, but the boundaries of pigmentation and hypertrichosis do not exactly match. In some areas of pigmented skin, hypertrichosis does not develop, at the same time, coarse hair covers the externally unchanged skin. The skin becomes wrinkled, thickened towards the center of the element. The warty surface is barely perceptible, but is well defined under lateral illumination. Sometimes there may be elements that resemble acne (comedones, papules, pustules, cystic nodes). Histological examination of Becker's nevus reveals acanthosis, hyperkeratosis, and occasionally horny cysts, the dermis is thickened and contains many strands of smooth muscle fibers associated with hair follicles or blood vessels; nevus cells are absent, the number of melanocytes is not increased, the content of melanin in keratinocytes of the basal layer is increased. Electron microscopy showed an increase in the number of melanosomes in the cells of the basal layer of the epidermis. Melanocytic activity is increased, but the amount of melanosomal complexes in keratinocytes corresponds to the degree of increased melanin synthesis. Becker's nevus giant melanosomes are found in melanocytes and keratinocytes. The number of androgen receptors is increased in the focus. The course of Becker's nevus is benign, unchanged throughout life, sometimes there is a decrease in the intensity of pigmentation. Usually, there is no association with any pathology, although unilateral hypoplasia of the mammary gland, spina bifida, shortening of the upper limb, and underdevelopment of the chest are described in women. The differential diagnosis of Becker's nevus is carried out with a giant melanocytic nevus, which, unlike Becker's nevus, rises above the skin level and exists from birth; McCune-Albright syndrome, in which the spot exists from birth, is evenly colored and does not have hair. Hypertrichosis and hyperpigmentation of Becker's nevus can be a serious cosmetic problem. Treatment of Becker's nevus is ineffective: dermabrasion does not give a pronounced effect, sometimes an argon laser is used.

.Comedonic nevus

(synonym: nevus with comedones, acne-like nevus) - an epidermal nevus from the tissues of the skin appendages with many expanded and keratin-filled hair follicles. It is congenital, sometimes occurs in childhood, occasionally later. Clinically, a comedonic nevus is a clearly demarcated lesion of a linear or irregular shape, within which there are closely grouped, slightly elevated follicular papules. The presence in the central part of the papule of a dense horny plug of dark gray or black color gives it a resemblance to a comedone. After removing the horny plug, a depression remains, in the place of which a site of atrophy is formed. The nevus can be located anywhere on the body. Usually plural, one- or two-sided. Histological examination of a comedonic nevus reveals rudimentary hair follicles in the form of invaginates of the epidermis penetrating deep into the dermis, filled with horny masses containing 1-2 hair shafts and several small atrophic lobules of the sebaceous glands: a small inflammatory infiltrate forms around the invaginates. The differential diagnosis of a comedonic nevus is carried out with a warty epidermal nevus. manifested by pronounced hyperkeratosis and warty changes that are absent with an acne-like nevus; Mibelli porokeratosis, which often occurs in men in the limb area, is distinguished by a large (up to 2 cm) diameter of the lesions, the presence of a horny ridge around the sinking center, and the absence of horny plugs present in acne-like nevus. Sometimes, against the background of a comedonic nevus, benign eccrine tumors, trichilemmal cysts, and basalioma develop. The nevus is usually asymptomatic, but with large and widespread lesions, intervention for cosmetic correction may be required. There are no effective methods of treating comedonic nevus, small nevi are removed surgically or by electrocoagulation, large ones - by applications of 0.1% retinoic acid solution.

Syringoma

A malformation of the sweat glands. The clinical picture is characterized by small flesh-colored papules, sometimes with a translucent anterior wall. Periorbital localization is characteristic, although the latter is not exceptional. The first elements usually appear in puberty, but there are cases of the onset of the process against the background of menopause.

The histological picture is characterized by the presence of multiple small cystic formations in the superficial and middle parts of the dermis, the walls of which are lined with two rows of epithelial cells, while those facing the lumen of the cyst resemble the cells of the excretory ducts of the eccrine sweat glands. In addition to cysts, there are strands of small dark-colored cells, some of which are associated with cysts, forming "tails", which is a characteristic histological sign of syringoma.

Differential diagnosis

Syringoma should be differentiated from other tumors of the sweat glands: papillary syringocystadenoma, eccrine spiradenoma, as well as from Brook's adenoid cystic epithelioma, multiple xanthomas, Pringle sebaceous gland adenoma, trichoepithelioma, leiomyoma, Goltz-Gorlin syndrome.

Papillary syringocystadenoma differs from syringoma clinically in that in most cases it is a solitary rather than multiple neoplasm and is localized mainly on the scalp, in the groin and axillary folds, and not on the face, neck and trunk, like syringoma. Elements of a syringocystadenoma, in contrast to a syringoma, are very variable and can be similar to nodules, plaques with papillary outgrowths, and cystic elements. Histologically, syringocystadenoma differs from syringoma in the absence of multiple cysts in the dermis, papillomatosis of the epidermis and thick plasmacytic infiltrate.

Eccrine spiradenoma, in contrast to syringoma, more often occurs in men, has the form of a solid tumor (less often represented by multiple nodes deeply located in the dermis) of a dense consistency, painful on palpation. The skin over the nodes is not changed or has a cyanotic coloration. Histologically, an eccrine spiradenoma differs from a syringoma by the absence of multiple cystic formations in the dermis, by the formation of elements of a lobular structure, encapsulated, having no connection with the thinned epidermis.

Brook's adenoid-cystic epithelioma, like syringoma, often occurs in young women, is characterized by multiple lesions, but unlike syringoma, it can be familial. Elements with adenoid-cystic epithelioma can appear on the limbs, group together. They have a smooth surface, in some cases with pronounced telangiectasias, can be combined with syringomas, cylinders and other skin neoplasms. Histologically, adenoid-cystic epithelioma differs from syringoma by the presence of structures resembling hair follicles.

Multiple nodular xanthoma differs from syringoma primarily in the yellowish or yellowish-orange color of the elements, which are characterized by a favorite localization in the periorbital region, on the neck and trunk, as is characteristic of a syringoma. In addition, multiple nodular xanthoma, unlike syringoma, does not occur predominantly in women. Histologically, it is characterized by the presence of xanthoma cells and differs from syringoma in the absence of cystic formations in the dermis.

SURVEY RESULT AS OF 03/18/2019:

Antibiotics 33.33% (5)

Lassara Pasta (outward) 26.67% (4)

1 - 2% methylene blue solution (topical) 20% (3)

Hyoxysone (external) 13.33% (2)

1-2% brilliant green solution (topical) 6.67% (1)

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CONGENITAL SKIN APLASIA a developmental defect characterized by a focal defect in the skin. It can be combined with aplasia of deeper tissues (in particular, with various forms of dysraphia - non-closure of embryonic fissures). Aplasia skin is the result of fetopathy that occurs when exposed to various adverse factors (viral, bacterial infections, intoxication, intrauterine or birth trauma, etc.). Hereditary forms are possible aplasias with an autosomal dominant or recessive mode of inheritance. Cases of chromosomal abnormalities (trisomy 13 pair, deletion of the short arm of chromosome 4) have been described. There are several types of skin aplasia, depending on its most frequent localization. Aplasia of the skin congenital Anderson-Novi(Campbell's syndrome) - aplasia the skin of the skull. It is characterized by a skin defect (up to 10 cm in diameter) of a membranous or bullous nature, usually localized in the parietal region, less often in the occipital and posterior auricular regions. In 70% of cases, the focus of aplasia is single, however, the formation of 2-3 lesions is possible, less often more. Membranous foci are usually rounded, devoid of skin, underlying tissues (including bone), and covered with a thin epithelial membrane. Histologically, in the area of ​​the membranous defect, compact collagen is found with a decrease in the number of elastic fibers, the appendages of the skin are absent. Signs of inflammation, necrosis are possible. Bullous lesions are usually detected in fetuses; in a newborn, an ulcerative defect has already formed in the place of the bladder, which heals within a few weeks with the formation of an atrophic scar, in the area of ​​which hair does not grow (cicatricial alopecia). Congenital aplasia the skin of the skull can be combined with congenital hydrocephalus, hemangiomas, polycystic kidney disease, meningocele, cleft palate, microphthalmia, epidermolysis bullosa, etc. Complications are possible in the form of secondary infection, meningitis (when a skin defect is reported with the cerebral cortex), sinus bleeding from sinus. Aplasia of the skin, congenital Devinka- aplazia skin of the skull, trunk or extremities. It is characterized by areas devoid of skin, tightened with a thin membrane, through which the underlying organs and tissues are clearly visible. A combination with a developmental defect in the form of the absence of limbs is possible. Limited skin aplasiaFreud- aplasia skin of the midline of the body or (symmetrical) limbs. Skin defects are ulcerative in nature, heal slowly with the formation of a scar. Bart's skin aplasia characterized by multiple ulcerative defects in the fontanelle, extremities, mucous membranes. It is currently considered as a variant of epidermolysis bullosa (see). The diagnosis is clinical. The differential diagnosis is carried out with mechanical damage (during childbirth), epidermolysis bullosa, congenital syphilis.

Treatment is aimed at preventing complications of the process by bacterial flora (if necessary, antibiotics are used); externally - epithelizing and disinfecting agents (1-2% solutions of methylene blue or brilliant green, Lassar paste, hyoxysone, etc.).