Congenital skin abnormalities in newborns. Skin diseases of the newborn Congenital aplasia of the skin

Congenital aplasia of the skin- a heterogeneous group of diseases, the common feature of which is the congenital absence of skin. Although the cause of aplasia is unknown, the condition itself has been documented for over 250 years.

In classical form of aplasia of the skin manifests itself as one or more erosions or ulcerations, covered with a crust or thin membrane, on the crown of the scalp. Healing in the form of atrophic, hairless scars occurs within 2-6 months. depending on the size and depth of the ulcerations (which can extend throughout the depth of the soft tissues down to the bone).

This benign condition may be inherited as an autosomal dominant trait or occur sporadically. Lesions of the trunk and limbs are less common; such lesions may be associated with limb defects, EB and chromosomal abnormalities. A lesion on the scalp with a ring of long dark hair surrounding it (the sign of a “hair collar”) is a defect due to incomplete fusion of the neural tube. MRI is indicated to evaluate possible connections to underlying areas of the brain and bone.

For uncomplicated congenital aplasia of the skin the defect is corrected by simple excision in late childhood or adulthood. For large lesions, staged excision and the use of tissue expanders may be required. In newborns, it is necessary to assess the depth of the defect, prevent tissue damage and infection, and examine the child for the presence of associated anomalies.

Soft compresses with physiological solution, topical antibiotics and sterile dressings are adequate therapeutic options for most patients. To manage patients with large defects, sealed dressings (Duoderm®, Comfeel®) are used. Sometimes early surgery is necessary.

Perinatal trauma head can lead to similar defects that are detected at birth or in the first month of life. Drawing blood from the scalp, monitor electrodes, and forceps may result in small ulcers that heal with scarring.

Hairless annular corolla on the scalp - another form of localized head trauma, in rare cases associated with a birth tumor and cephalhematoma, which sometimes resolves with cicatricial alopecia.

Congenital aplasia of the skin resemble other nevoid defects, often appearing as hairless patches on the scalp. However, these birthmarks do not crust over or become atrophic and usually have characteristic clinical signs. Some congenital, weakly pigmented pigmented nevi on the scalp can also mimic congenital aplasia cutis.

P. Popkhristov, M. Koicheva-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 or round 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 deposits. The depth of the ulcers varies, they can reach the periosteum, bones, muscles and meninges. Skin defects sometimes epithelialize in utero and leave oval-shaped scars on the skin after birth. 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 surgery or hair transplantation.

Hiatus cutis congenitusis a congenital skin defect. It is localized along the midline of the body, on the back, abdomen or thighs. Combined with other developmental defects. This disease is probably 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 different sizes located in the scrotum along the midline and on the side of it, the excretory channels of which are opened in the suture area. Purulent exudate is sometimes released from them. Cysts can be felt as slightly painful nodes. Treatment is surgical and consists of excision of nodes.

Oedema lymphangiectaticum neonatorum . A very rare congenital disease, characterized by swelling of the arms and legs. It is caused by malformation of lymphatic vessels and stagnation of lymph. With age, there is a tendency towards regression and spontaneous healing.

Differential diagnosis is made with congenital elephantiasis and Milroy Meige syndrome.

CONGENITAL AND HEREDITARY SKIN DISEASES

Naevi vasculares. angiomatosi. Vascular nevi have the appearance of spotty, flat, nodular or tumor-like formations rising above the surface of the skin, pale pink to dark red in color, 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 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 during the neonatal period. It is localized on the back of the head, on the border between the hair and smooth skin, as well as on the forehead and nose. It is more common in girls and has the appearance of an erythema spot. Sometimes it is so hidden that it is visible only when the child cries or is tense. 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 vary; 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 a bright red to violet 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. When ulcerated, hemangiomas can cause profuse hemorrhages and anemia. When they overgrow, they leave behind scars, which often lead to a decrease in their size.

Naevus araneus s. stellatusIt is a flat or slightly raised erythemal formation with a diameter of 2-3 mm, around which many thin angiectasias branch in a star-shaped manner. Such nevi can be single or several together and are most often located on the face. There is evidence that similar changes to 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 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 the use of a color-correcting cosmetic cream. In cases of cavernous, rapidly growing hemangiomas, early (in the second month of the 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 develop; 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; Sterge-Krabbe-Weber syndrome, which is a combination of brain hemangiomas with hemangiomas localized on the skin in areas innervated by the trigeminal nerve; Kdipel-Trenaunay 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 cutaneous 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.

Kasabach-Merritt syndrome - a 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 a spider-like nevus, sometimes reaching 1-2 cm in diameter. The disease begins in childhood and lasts throughout life. It is very typical for it 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 in internal organs - the bladder, uterus, bronchi, and retina. There is a risk of developing anemia and hemorrhages.

Naevi pigmentosi. These are brown spots of various sizes or flat, protruding rashes above the surface of the skin, located in different areas 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. Unilateralis s. linearis They are linear or jagged 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 initially tend to develop progressively. They can be combined with other similar nevi.

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

Ichthyosis vulgaris. The disease begins in infancy, less often later. It is inherited in an autosomal dominant manner, characterized pathomorphologically by hyperkeratosis and complete or partial absence of the granulosa epidermal layer. This disease in its diverse, varying clinical forms is characterized by a tendency to form scales and constant peeling of already very dry skin, often hyper-pigmented, dirty grayish-brown in color. No erythema is observed. In more severe cases, in addition to the skin, the lesion also affects the skin appendages, which change dystrophically. The following clinical forms of this disease are distinguished:

Xerodermia (xerosis cutis s. ichthyosis abortiva) - the mildest form, which is expressed by desquamation of a thin layer mainly from the extensor surface of the limbs. Ichthyosis simplex pityriasiformis. The scales that separate from the limbs are small, attached in the center to the skin, the edges of the scales are curved outward. 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 horny processes on the skin that are sharp at the apex. The disease can be combined with other developmental defects or exist as isolated forms in a specific location in the form of a nevus formation.

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

Ichthyosis congenita s. Erythrodermia ichthyosiformis . Clinic. This disease differs from ichthyosis vulgaris in that it begins early, soon after the birth of a child, and also affects the extensor surfaces of the extremities, and pathological changes there are often more clearly expressed. The disease is inherited in an autosomal recessive manner. Hyperkeratosis - dryness, peeling combined with diffuse erythema of the skin. When one sign subsides, another becomes stronger. The skin of the face is red, dry and flaky. The hairline is covered with yellowish-white scales. Dental dystrophy and changes in the sensory organs - ears, eyes, mental and physical retardation are often observed. Erythrodermia ichthyosiformis bullosa is spoken of when the appearance of blisters is added to the clinical picture described above. At birth, such children appear as if they were boiled; their skin is red and peels off with large red scales.

Sjogren-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, it is recommended to use keratolytic and skin softening agents. Baths of sea water, then lubricating the skin with an ointment consisting of 10% Ung. Na. chlorati, Calmurit salbe vitamins A and E. A humid climate is most favorable for such patients.

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 detected. 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 palmoplantar 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, osteochondritis changes are identified, most often in the knee joints and pelvic bones. Along with hyperkeratotic changes in the skin, one can find 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. Engmann-Kole dyskeratosis congenita. It is relatively common and mostly affects boys between 5 and 12 years of age. The disease progresses and is fully identified within 3-5 years, demonstrated by the triad: poikiloderma-1-leukoplakia + nail dystrophy. This is also accompanied by palmoplantar hyperkeratosis, vasomotor disturbances, and blisters appear after 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 tear ducts. 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, and splenomegaly develop. In addition, hypogenitalism, hypoadrenalism, dysphagia, and heart block can be observed. The mental development of the child usually remains normal.

Thomson's Poikilodermia congenita. 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, thin telangiectasia and peeling. You may also find blisters, follicular hyperkeratosis, wart-like changes on the skin of the fingers, muscle weakness, gastrointestinal disorders, liver failure, and mild porfinuria. 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 the spontaneous appearance of blisters or those provoked by minor trauma. The disease manifests itself already at birth or in later 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, shock and friction. Erosion that appears after the rupture of blisters 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 may undergo 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 and is diagnosed at birth or immediately after. The blisters that appear spontaneously or after a minor injury cover most of the skin and mucous membranes, the skin appendages change dystrophically up to anonychia and atrichosis. Due to the fusion of the edges of eroded skin areas 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 esophagus. Around hyperpigmented atrophic scars, pseudomiliums appear - epidermal cysts - whitish pinpoint rashes. Nikolsky's symptom is positive. In children suffering from dystrophic epidermolysis bullosa, there is a delay general development, tendency to intercurrent diseases. Along with clinical signs, dystrophic changes in the teeth, ichthyotic conditions, poikiloderma, porfinuria, increased sensitivity to light, and, at an older age, malignant degeneration of the skin are detected.

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

Treatment is symptomatic to avoid infection and finger contracture.

Morbus Pringle Bourneville - Pringle-Bourneville disease. Along with tuberous sclerosis of the glia and changes in the visceral organs as a result of the proliferation of tumors, adenomas of the sebaceous glands, small nodular papules of yellowish-brown or pink color, located near the nose and mouth, are found on the skin of the face. Fibroma-like formations, hypertrophic gingivitis and warty changes on the tongue are found on the lips and mucous membranes. Characteristic of the so-called Koepep 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 age spots: soft tumors of various sizes, painless, gradually protruding above the surface of the skin, sometimes on legs, with a soft base into which they may retract like a hernia. The third type is dense superficial or deeply located tumor-like formations, which can undergo malignant degeneration, 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. This is a relatively rare connective tissue disease 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 of underlying tissue, 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 progresses to a certain extent after birth and then remains stationary.

Treatment is symptomatic, most often associated with hemorrhages.

Pigment incontinence (Incontinentia pigmenti, Bloch-Sulzberger 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 by inflammatory erythema and the appearance of blisters located in groups or linearly, in the form of stripes. The symptoms 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 the dermal melanocytes. The spots can be detected simultaneously with verrucous lesions and they remain on the skin for several years, and then disappear.

Incontinentio pigmenti can be combined 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 enzyme deficiency during DNA reproduction under the influence of exposure to sunlight.

Clinic. The disease begins to appear in the first three years of life on open areas of the body exposed to solar radiation. Transient erythema and large blisters appear in these places, after which they turn into dark spots and atrophic scars that persist in winter. Gradually, the skin becomes dry and acquires a variegated color due to the presence of many pigmented spots, atrophic scars and telangiectasia. Later, in the 10th year of life, wart-papillomatous rashes appear in the affected areas, on which basocellular or spinocellular carcinoma very often develops. Complications result in: narrowing of the mouth, thinning and destruction of the nose, ears, ectropion, but the general condition remains good. Photophobia and hematoporphyria can be observed.

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

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

Treatment - internally is carried out with corticosteroids, resokhin, vitamin A; local - photoprotective creams.

Ephelides.Light brown or dark gray small spots, the size of a pinhead, scattered across 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 fade. Freckles are caused by local accumulation of melanin in melanocytes.

Differential diagnosis is carried out to distinguish it from xeroderma pigmentosum.

Treatment. Protection from sunlight by using photoprotective creams.

Lentiginosis pjuriorificialis ( Pjotz-Egers syndrome).A familial 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 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. 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.

Differential diagnosis is made with Pityriasis versicolor and postlesional leukodermas.

Treatment. There is no sufficiently effective treatment yet. 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 manner. In cases of 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 a complete absence of pigment in the skin, hair and eyes. People of the white race have a red iris, while other races have a blue iris. At the same time, one can observe the presence of photophobia, refractive errors, pathological nystagmus, and retardation of physical and psychomotor development. The disease may 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 forecast is good in northern and temperate climates and more severe in the tropics.

Treatment with photoprotective agents.

Clinical Pediatrics Edited by prof. Br. Bratinova

DEFINITION

Congenital skin defect.

ICD-10 CODE

P 83 Other changes in the outer integument specific to the fetus and newborn.

EPIDEMIOLOGY

A rare disease.

ETIOLOGY

Not known.

PATHOGENESIS

Not known.

CLINICAL PICTURE

Congenital aplasia of the skin and subcutaneous tissue is possible in limited areas of the scalp and torso already at birth. The size of the lesion ranges from 0.2 to 3-4 cm in diameter. An isolated skin defect is possible (Goltz syndrome, inherited in a dominant manner, linked to the X chromosome) or a defect combined with other developmental defects.

DIAGNOSTICS

Physical examination

Isolated or multiple skin defects.

An example of a diagnosis formulation

Congenital aplasia of the scalp.

Treatment Goals

Treatment comes down to protection from infection and secondary infection.

Further management

Observation.

FORECAST

In the absence of secondary infection - favorable.

Key tags:

– a group of conditions of unknown etiology, which are characterized by focal disruption of the formation of the skin with the development of scars. Symptoms of this condition appear immediately after the birth of a baby who has one or more erosions or ulcerations on the scalp or, very rarely, on other areas of the body. Diagnosis of congenital aplasia of the skin is carried out on the basis of examination by a dermatologist and histological examination of tissues in the lesion. Treatment is only symptomatic 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, 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 reasons for its development; in dermatology there are only theories on this matter. The incidence of congenital aplasia cutis is unknown; most researchers estimate it at 1:10,000. Sometimes this condition is combined with certain genetic diseases and other intrauterine developmental defects. Congenital aplasia of the skin 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 with 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 of skin development. It is assumed that the cause of congenital aplasia of the skin is a whole group of various pathological factors that lead to disruption of the process of closing the neural tube or inhibit the development of embryonic rudiments of the dermis and epidermis. Sometimes it is possible to identify familial forms of this condition, and the mechanism of its inheritance is presumably autosomal dominant. But sporadic forms of congenital aplasia of the skin 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 lesion is found in the parietal region round shape 1-3 centimeters in diameter. In approximately a third of cases, two lesions occur; even less often, three or more areas of skin aplasia occur. The pathological area is an erosion or ulcer, covered with a crust and granulations; there is no hair on it. However, longer and darker hairs grow around the ulcer, which is called the “collar of hair” symptom. The color of the formation varies from pink to bright red.

Over time, in the absence of complications (secondary infection, for example), the area of ​​congenital aplasia of the skin begins to resolve with the formation of a white scar. Hair also does not grow on it in the future, and it remains with the person for life. In addition to skin symptoms, a child with a focus of congenital aplasia of the skin may experience disturbances in the formation of deeper tissues and other developmental defects - 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

Recognizing this disease is usually not difficult for a dermatologist - its symptoms are quite specific, and it is quite difficult to confuse it with other congenital skin conditions. However, in some cases, other pathological processes and conditions may 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 the consequences of perinatal trauma (from forceps and other obstetric instruments). Familial forms of facial skin hypoplasia are very similar to aplasia, but atrophic foci are observed in the temple area.

The most accurate diagnostic data can be provided by histological examination of the tissues of the pathological focus. With congenital aplasia of the skin, a sharp decrease in the thickness (down to the 1st layer of cells) of the epidermis, dermis, and sometimes subcutaneous tissue is observed. There are no signs of inflammation and leukocyte infiltration (in the absence of secondary infection), and no skin appendages are detected.

Treatment and prognosis of congenital aplasia of the skin

Treatment of congenital aplasia of the skin is conventionally divided into two stages. The first is carried out immediately after the birth of the child - during this period only preventive and care measures are indicated (treating erosions with antibacterial ointments, moisturizers), applying a bandage 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 boils down to surgical elimination 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 transplantation can be used. The prognosis of the disease is generally favorable; some researchers indicate the need for an annual examination of the scar by a dermatologist due to the risk of developing oncological processes.

And we also have

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, baldness of the back of the head is sometimes observed - hair falls out or breaks off.

What is the typical location of rashes in atonic dermatitis and seborrheic dermatitis in newborns?

Damage to the axillary and groin areas is more typical for seborrheic dermatitis, and the extensor surfaces of the extremities (forearms and legs) are more typical for atopic dermatitis. The scalp and behind-the-ear areas are affected in both atopic and seborrheic dermatitis, but in the latter the lesion extends to the forehead, eyebrows and is covered with thick yellow scales.

What is scalded skin syndrome?

scalded skin syndrome is caused by Staphylococcus aureus, the toxin of which leads to detachment of the epidermis and the formation of blisters. A positive Nikolsky symptom is observed - the formation of a bubble at the site of light rubbing of the skin. Epidemic outbreaks of scalded skin syndrome have been described in neonatal units. 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 cutis congenita?

Congenital aplasia of the skin - the absence of its normal layers; most often observed on the scalp and looks like an ulcer, healed erosion or well-formed scar. If blood was taken from the soft tissues of the head during childbirth to determine pH, such a defect is often mistakenly mistaken for a trace of injury. If the area of ​​aplasia is extensive or overlaps the midline of the skull, 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 are often (according to one prospective study - in 8.6% of cases) combined with malformations of the urinary system, and therefore are an indication for