Congenital aplasia of the skin. Congenital skin anomalies in newborns. Diagnosis and treatment

Congenital aplasia of the skin (aplasia cutis congenita) - the absence of the skin.

Symptoms

Foci of skin aplasia, single or multiple, are usually located on the scalp (70%). They are clearly defined round or oval defects 1-2 cm in diameter without inflammation. The nature of the defects depends on the period of intrauterine development in which they arose. Defects that arose in the early stages of intrauterine development heal before birth and look like atrophic connective tissue scars devoid of hair. Later defects look like ulcers. Most often, defects are located in the region of the crown to the side of the midline, but they are also found on the face, trunk, and extremities, where they are often symmetrical. The depth of the defects is different. They can capture only the epidermis and the upper layer of the dermis and heal with a non-rough scar, devoid of hair, or capture not only the entire thickness of the dermis, but also the subcutaneous tissue and even (in rare cases) the periosteum, bone and dura mater.

There is no single theory to explain the origin of any foci of congenital skin aplasia. The diagnosis is made on the basis of clinical findings indicating an interruption in intrauterine development of the skin. Sometimes foci of lack of skin are mistaken for damage from monitor sensors and traces of birth trauma. Apparently, several factors play a role in the etiology of skin aplasia - heredity, exposure to teratogens, impaired blood supply to the skin, trauma.

In most cases, congenital underdevelopment of the skin is the only malformation, but sometimes it is combined with other single or multiple malformations. For example, there is a combination of congenital aplasia of the skin with a reduction in the distal extremities, which is usually inherited in an autosomal dominant manner, or a combination with epidermal nevi and sebaceous gland nevi, which has a sporadic character. Combinations with other obvious or hidden malformations are also possible - meningomyelocele, non-closure of the abdominal wall, hernia of the umbilical cord, spinal dysraphia. The combination of congenital absence of skin with a "parchment" fetus in twins indicates the role of ischemia and thrombosis of the vessels of the placenta and fetus in its development. Congenital aplasia of the skin is sometimes combined with such well-known manifestations of epidermolysis bullosa as blistering, fragility of the skin, absence or deformation of the nails. Congenital skin aplasia is also observed when taking methimazole (Mercazolil) during pregnancy, congenital herpes infection, congenital infection caused by a virus. In addition, it is a component of a number of syndromes of multiple malformations - some ectodermal dysplasias, trisomy 13 and 14, deletion of the short arm of chromosome 4, Johanson-Blizar syndrome, focal dysplasia of the skin of the face, focal hypoplasia of the skin. Congenital absence of skin may be mistaken for damage to monitor sensors or spontaneous skin atrophy in preterm infants.

Large foci of congenital aplasia of the skin can be complicated by bleeding, local infection, meningitis. Small ones heal without complications in a few weeks by gradual epithelization and the formation of an atrophic scar without hair.

- a group of conditions of unclear etiology, which are characterized by a focal violation of the formation of the skin with the development of scars. Symptoms of this condition appear immediately after the birth of a child who has one or more erosions or ulcerations on the scalp or, very rarely, elsewhere on the body. Diagnosis of congenital aplasia of the skin is carried out on the basis of examination by a dermatologist, histological examination of tissues in the lesion. Treatment is only symptomatic in order to prevent the development of a secondary infection, but surgical correction of scars is possible to reduce the cosmetic defect.

Congenital aplasia of the skin is a focal defect in the development of the skin, in which the formation of the epidermis, dermis, appendages, and, in especially severe cases, the subcutaneous tissue is disrupted. This condition has been known to mankind for more than 250 years, but it has not yet been possible to identify the causes of its development, in dermatology there are only theories on this matter. The incidence of congenital aplasia of the skin is not exactly known, most researchers estimate it at 1:10,000. Sometimes this condition is combined with some genetic diseases, other malformations of intrauterine development. Congenital skin aplasia in most cases does not lead to serious consequences, however, a cosmetic defect in the form of a scar at the site of the pathological focus remains in a person for life.

Causes of congenital aplasia of the skin

To date, there is no single and generally accepted theory that would explain the development of this congenital defect in the development of the skin. It is assumed that the cause of congenital skin aplasia is a whole group of various pathological factors that lead to a disruption in the process of closing the neural tube or inhibit the development of the embryonic rudiments of the dermis and epidermis. Sometimes it is possible to identify familial forms of this condition, while the mechanism of its inheritance is presumably autosomal dominant. But sporadic forms of congenital skin aplasia are much more common, sometimes in combination with other malformations caused by genetic diseases or exposure to teratogenic factors. This gives reason to consider this condition as a consequence of the influence of various damaging factors on the developing fetus.

Symptoms of congenital aplasia of the skin

Aplasia of the skin is detected immediately after the birth of the child. Most often, a rounded focus with a diameter of 1-3 centimeters is found on the parietal region. Approximately in a third of cases there are two foci, even less often there are three or more areas of skin aplasia. The pathological area is an erosion or ulcer, covered with a crust and granulations, there is no hairline on it. However, longer and darker hairs grow around the ulcer, which is called the “hair collar” symptom. The color of the formation varies from pink to bright red.

Over time, in the absence of complications (secondary infection, for example), the site of congenital aplasia of the skin begins to resolve with the formation of a white scar. In the future, hair also does not grow on it, and it remains with a person for life. In addition to skin symptoms, a child with a focus of congenital aplasia of the skin may have disorders in the formation of deeper tissues and other malformations - cleft lip, cleft palate, eye atrophy. In older children and adults, malignant neoplasms can sometimes develop at the site of the scar.

Diagnosis of congenital aplasia of the skin

Recognition of this disease is usually not difficult for a dermatologist - its symptoms are quite specific, and it is rather difficult to confuse it with other congenital skin conditions. However, in some cases, other pathological processes and conditions may also have a picture similar to congenital aplasia of the skin. Therefore, it is necessary to make a differential diagnosis of this pathology with diseases such as focal scleroderma, discoid lupus erythematosus, as well as with the consequences of perinatal trauma (from forceps and other obstetric instruments). Familial forms of hypoplasia of the skin of the face are very similar to aplasia, however, atrophic foci are observed in the temples.

The most accurate diagnostic data can be given by a histological study of the tissues of the pathological focus. With congenital aplasia of the skin, a sharp decrease in the thickness (up to the 1st layer of cells) of the epidermis, dermis, and sometimes subcutaneous tissue is observed. Signs of inflammation and leukocyte infiltration (in the absence of a secondary infection) are not observed, and skin appendages are also not detected.

Treatment and prognosis of congenital skin aplasia

Treatment of congenital aplasia of the skin is conditionally divided into two stages. The first is performed immediately after the birth of the child - during this period, only preventive and care measures are shown (treatment of erosion with antibacterial ointments, moisturizers), bandaging to reduce the risk of injury. After a few weeks, a scar will form at the site of the pathological focus, which, although it remains for life, can be covered by surrounding hair. The second stage is reduced to the surgical removal of the defect (most often for cosmetic reasons), and it can be carried out in late childhood or adulthood. When correcting large areas of congenital aplasia of the skin, skin grafting can be used. The prognosis of the disease is generally favorable, some researchers point out the need for an annual examination of the scar by a dermatologist due to the risk of developing oncological processes.

And we also have

P. Pophristov, 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 sharply defined edges of various sizes are visible - from millimeters to centimeters in diameter. The bottom of the ulcers is covered with granulations or reddish-brown plaques. The depth of ulcers is different, they can reach 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 be found in other parts of the body.

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

Hiatus cutis congenitusis a congenital defect of the skin. It is localized along the midline of the body, on the back, abdomen or thighs. It is combined with other malformations. Probably, this disease is caused by 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 to the side of it, the excretory canals of which are opened in the suture area. Of these, purulent exudate is sometimes released. Cysts are palpated as slightly painful nodes. Treatment is surgical and consists in excision of the nodes.

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

The 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 pale pink to dark red color, the intensity of which changes with crying or effort, flatly rising above the surface of the skin. 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 most common vascular nevi are:

Teleangiectasia congenita nuchae (naevus simplex). This vascular nevus is extremely often observed even in the neonatal period. It is localized on the back of the head, on the border between the hairline and smooth skin, as well as on the forehead and nose. It is more common in girls and has the appearance of an erythemal patch. Sometimes it is so hidden that it is visible only when the child is crying or stressing. With age, it becomes more pale.

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. Nevus exists throughout life.

Haemangioma tubero-cavernosumIt is a tumor-like formation of various sizes, more or less rising 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 extremities. At first it develops progressively, but later in 90% of cases its growth stops before the end of the first year of life. When ulcerated, hemangiomas can cause profuse hemorrhage 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 2-3 mm in diameter, around which many thin angiectasias branch out star-shaped. Such nevi are single or several together and are most often located on the face. There is evidence that similar 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 when they create mechanical difficulties in localization near the orbit, nose, mouth, and anus. Treatment (after an individual assessment of each case) can be surgical, by contact x-ray therapy, or by using a color-correcting cosmetic cream. In cases of cavernous, rapidly growing hemangiomas, early (in the second month of a child's life) general therapy with corticosteroids at a dose of 1–2 mt/kg for 1–2 months is indicated.

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 cavernous hemangiomas of the face, are observed simultaneously with hemangiomas in the cerebellum, fourth ventricle of the brain, retina, pancreas and kidneys; Sterzh-Krabbe-Weber syndrome, which is a combination of brain hemangiomas with hemangiomas localized on the skin in areas innervated by the trigeminal nerve; Kdiplya-Trenaunay syndrome - the changes observed in this syndrome are usually localized unilaterally and are expressed by congenital phlebectasia, tuberous plexiform hemangiomas and bone hypertrophy and are localized on the limbs; Parkes-Weber syndrome is similar to that described above and occurs in older children and adults.

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

Kazabah-Merritt Syndrome - gigantic hemangioma, most often localized on the limbs, 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 coming from them. They resemble an arachnid nevus, sometimes reaching 1-2 cm in diameter. The disease begins in childhood and lasts a lifetime. It is very characteristic of him the presence of 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 in internal organs - the bladder, uterus, bronchi, retina. There is a risk of developing anemia and hemorrhages.

Naevi pigmentosi. These are brown spots of different caliber or flat rashes protruding above the surface of the skin, located in various parts of the skin. Their hue and intensity depend on the number 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 skin of the body (Tierfellnaevus s. Naevus pigmentosus et pillojus). Treatment is surgical.

Naevi hyperkeratotici s. uniuslateralis s. linearis are linear or serrated formations of yellowish to brown color, with a rough, file-like, 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.

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

Ichthyosis vulgaris. The disease begins in infancy, rarely later. It is inherited autosomal dominantly, pathomorphologically characterized by hyperkeratosis and complete or partial absence of the granulosa epidermal layer. This disease in its diverse, varying degrees of clinical forms is characterized by a tendency to scaling and constant flaking of already very dry skin, often hyper-pigmented, dirty grayish-brown in 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 easiest form, which is expressed by sloughing off a thin layer, mainly from the extensor surface of the limbs. Ichthyosis simplex pityriasiformis. Scales detached from the limbs, small, attached to the skin in the center, the edges of the scales are bent outwards. There is palmoplantar keratoderma, 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, reminiscent of snake skin. Ichthyosis hystrix (sauroderma) is the most severe form, with sharp horny processes on the skin at the top. 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 disease described, it is characteristic that they often pass one into another and it is not always easy to distinguish between 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 often more pronounced. The disease is inherited in an autosomal recessive manner. Hyperkeratosis - dryness, peeling combined with diffuse erythema of the skin. When one symptom subsides, another one intensifies. The skin of the face is reddened, dry and flaky. The hairline is strewn with yellowish-white scales. Often observed dystrophy of the teeth and changes in the senses - ears, eyes, mental and physical retardation. They say about erythrodermia ichthyosiformis bullosa when the appearance of blisters is added to the clinical picture described above. At birth, such children appear as boiled, their skin is red, peeling off with large red scales.

Sjögren-Larsen Syndrome - ichthyosiform erythroderma in combination with spastic paraplegia and mental retardation.

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

Treatment. For the treatment of all ichthyotic conditions, keratolytic and skin softening agents are recommended. Baths of sea water, then lubrication of the skin with an ointment consisting of 10% Ung. Na. chlorati, Calmurit salbe vitamins A and E. The most favorable for such patients is a humid climate.

DISPLASIAE ECTODERMALES

This group includes many family hereditary diseases of unknown etiology, in which pathological changes in the keratinization of the epidermis, a tendency to form blisters and degenerative changes in the skin appendages are found. Of these, the most common are:

Polykeratosis congenita Touraine . Under this name, a significant number of clinical pictures are combined, characterized by: the presence of palmar-plantar keratoderma, more often partial, less often diffuse: hyper-, hypo- or anhidrosis; pachyonychia or onychogryphosis: erythroderma and ichthyosiform peeling, hypotrichosis, dental dystrophy. On the part of the bone skeleton, osteochondritis changes are established, most often in the knee joints and pelvic bones. Along with hyperkeratotic changes in the skin, blistering, poikiloderma, and leukoplakia on the mucous membranes can be detected on it. 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-Kole. It is relatively common, affecting boys aged 5 to 12 more often. The disease progresses and is fully revealed in 3-5 years, demonstrated by the triad: poikiloderma-1-leukoplakia + nail dystrophy. This is also joined by palmar-plantar hyperkeratosis, vasomotor disorders, blisters appear after an injury. 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 may 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, in addition, observe hypo-genitalism, hypoadrenalism, dysphagia, heart block. The mental development of the child 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: erythema spots, superficial skin atrophy, reticular dyschromia, fine telangiectasias and peeling. Blisters, follicular hyperkeratosis, wart-like changes on the skin of the fingers, muscle weakness, gastrointestinal disorders, liver failure, mild porphyrinuria can also be found. The described changes can be combined with anomalies of the skeleton and teeth.

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 at a later infancy. There are two clinical forms: simple and dystrophic.

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

Epidermolysis bullosa dystrophica . 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 blisters 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 severe, diagnosed at the birth of a child or immediately after that. Blisters that appeared spontaneously or after a minor injury 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 openings and esophagus. Around hyperpigmented atrophic scars, pseudomiliums appear - epidermal cysts - whitish dot rashes. Nikolsky's symptom is positive. In children suffering from dystrophic epidermolysis bullosa, there is a lag in overall development, a tendency to intercurrent diseases. Simultaneously with clinical signs, dystrophic changes in the teeth, ichthyotic conditions, poikiloderma, porphyrinuria, increased sensitivity to light, and, at an older age, malignant skin degeneration are detected.

In the differential diagnostic respect, 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-Bourneville disease. Along with tuberous sclerosis of the glia and changes in the visceral organs as a result of the growth of tumors, adenomas of the sebaceous glands are found on the skin of the face, small nodular papules of a yellowish-brown or pink color located near the nose and mouth. On the lips and mucous membranes, fibroma-like formations, hypertrophic gingivitis and warty changes on the tongue are found. Characterized by the so-called Koenep tumors, which are fibromas located around and under the nails.

Morbus Reckleinghaiseii - Recklinghausen's disease . This systemic ectodermatosis, which begins in childhood, is characterized mainly by three types of skin changes: freckle-like or larger pigmented spots: soft tumors of various calibers, painless, gradually protruding above the surface of the skin, sometimes stalked, with a soft base in which they may sink like a hernia. The third type is dense superficially or deeply located tumor-like formations, which can undergo malignant degeneration, located along the peripheral nerves. Itching 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 often observed. 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-Sulzberger disease).

The condition, which is likely 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 by inflammatory erythema and the appearance of bubbles arranged in groups or linearly, in the form of strips. The phenomena resemble eczema or pyoderma and remain 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. Spots can be detected simultaneously with verrucous lesions and they remain on the skin for several years, and then disappear.

Incontinentio pigmenti may be associated with dental anomalies, 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.

Treatment is not necessary.

XERODERMA PIGMENTOSUM

A relatively rare disease transmitted by an autosomal recessive gene and associated with an enzyme deficiency in the reproduction of DNA 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 exposed to solar radiation. Transient erythema and large blisters appear in these places, 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, there are: 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. Obligatory consider dispensary observation and protection from solar irradiation.

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

Ephelides.Light brown or dark gray, small, pinhead-sized spots 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 distinguish from xeroderma pigmentosum.

Treatment. Sun protection with sunscreen.

Lentiginosis pjuriorificialis ( Piotz-Egers syndrome).A family disease manifested by the appearance of specific spots located on the skin around natural openings - the mouth, nose, eyes and on the mucous membranes - the buccal surface of the oral cavity and 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 on the skin and scalp of various sizes of achromic spots, which often progress paroxysmal or remain unchanged for a long time. Sometimes the spots are surrounded by a hyperpigmented zone. The onset of the disease in some cases is preceded by psychotraumatic experiences. These changes were also observed in thyrotoxicosis and Addison's disease, chronic focal infection, etc.

The differential diagnosis is made with Pityriasis versicolor and postlesional leukoderma.

Treatment. So far, there is 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, xanthorine, bergamot oil.

Albinism.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 tyrosine metabolism. Clinical signs are the complete absence of pigment in the skin, hair and eyes. The faces of the white race have a red iris, while the other races have a blue one. At the same time, one can observe the presence of photophobia, refractive disorders, pathological nystagmus, and a lag in physical and psychomotor development. The disease can also 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 prognosis is good in northern and temperate climates and more severe in the tropics.

Treatment - photoprotective means.

Clinical Pediatrics Edited by prof. Br. Bratinova

For atopic dermatitis, itching is a characteristic symptom. But in children of the first months of life, and especially newborns, the coordination of movements is insufficient to itch. However, due to increased friction on the bed, nape baldness is sometimes observed - the hair falls out or breaks off.

What is the typical location of the lesions in atopic dermatitis and seborrheic dermatitis in newborns?

The defeat of the axillary and inguinal regions is more typical for seborrheic dermatitis, and the extensor surfaces of the extremities (forearms and shins) are more typical for atopic dermatitis. The scalp and behind the ear are affected in both atopic and seborrheic dermatitis, but in the latter, the lesion extends to the forehead, brow bone, and is covered with thick yellow scales.

What is scalded skin syndrome?

scalded skin syndrome caused by Staphylococcus aureus, the toxin of which leads to detachment of the epidermis and the formation of blisters. There is a positive symptom of Nikolsky - the formation of a bubble at the site of light rubbing of the skin. Epidemic outbreaks of scalded skin syndrome in neonatal wards are described. It should be remembered that scalding due to the use of too hot bathing water in neonatal units also sometimes occurs.

What is congenital aplasia of the skin (aplasia cutis congenita)?

Congenital aplasia of the skin - the absence of its normal layers; most commonly seen on the scalp and appears as an ulcer, healed erosion, or well-formed scar. If blood was taken from the soft tissues of the head to determine the pH, such a defect is often mistaken for a trace of an injury. With an extensive or overlapping midline of the skull focus of aplasia, imaging studies are indicated to exclude a defect in the underlying bone and meninges

What is the clinical significance of preauricular rudiments of accessory tragus?

Preauricular rudiments of accessory tragus in the form of skin outgrowths - the remains of the first gill arch (Fig.). Its formation occurs in the fourth week of intrauterine development simultaneously with the formation of the kidneys and heart. Preauricular rudiments of accessory tragus often (according to one prospective study - in 8.6% of cases) are combined with malformations of the urinary system, therefore they are an indication for

The etiology and pathogenesis of the disease are unknown. Congenital aplasia of the skin is a malformation inherited predominantly in an autosomal dominant fashion. The disease exists from birth, more often manifests itself as a single round 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 zone. 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 the underlying 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 fatty tissue, underdevelopment or absence of skin appendages.

Differential diagnosis. Congenital aplasia of the skin must be differentiated from damage to the scalp during childbirth, in the scar stage - from discoid lupus erythematosus, focal scleroderma. The nature of the location and sharp boundaries of the lesion, the absence of inflammatory changes and compaction, the existence of the disease from birth, and often the presence of such defects in several family members, 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 facial dysplasia. Significant atrophic skin changes are one of the symptoms of focal skin hypoplasia.

SKIN LESIONS IN CONNECTIVE TISSUE DISEASES

Collagenoses, or diffuse diseases of the connective tissue, 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 an 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.