The epidermolysis bullosa

disease of the newbornepidermolysis Bullosa (Epidermolysis bullosa, a synonym disease of the newborn), a rare inherited disease manifests itself immediately after birth or in the first years of life.
There are two main forms of epidermolysis bullosa. 1. Simple epidermolysis bullosa. On skin, subject to mechanical irritation (palms, feet, elbows, and shoulders), there are bubbles filled with serous, less bloody fluid, healing after opening without a trace. Subjective sensations, physical and mental development no. To the period of puberty often there is a clear improvement. 2. Dystrophic epidermolysis bullosa. Former bubbles are formed atrophy and scars. The rash can be localized and mucous membranes (mouth, esophagus, trachea); there is a pronounced nail dystrophy, dry skin, acrocyanosis (see), abnormalities of the teeth, porphyrinuria (see), with the most severe forms - positive symptom of St. Nicholas (see Bladderwort), atrophy of the terminal phalanges, and sometimes Mytischi (rejection) of the fingers and toes. In this form, usually celebrate physical impairment, mental retardation, decreased resistance to infection.
Forecast for life in a simple form favorable, with dystrophic - heavy.
Treatment: to protect the skin of a sick child from trauma, restorative therapy (iron supplements, fish oil, vitamins a, C, b group); regularly to open all the bubbles and lubricate disinfectants (1% alcohol solution of methylene blue, 5% dermatology ointment and others); epithelization erosion contribute corticosteroid ointments (prednizolonovuyu, lookeren and others). In severe forms of epidermolysis bullosa child hospitalized (treatment with steroids and injections of gamma globulin).

The epidermolysis bullosa [ Epidermolysis bullosa, synonym: epidermolysis bullosa hereditaria; acantholysis bullosa (G. Behrend); bullosis mechanica (H. W. Siemens); congenital disease (W. Legg, P. C. Nikolsky) and other] - congenital disease of the skin (in some families set in 8 generations). In the modern view, depending on the type of inheritance (dominant, recessive) and clinical manifestations there are three main forms of the disease.
1. Epidermolysis bullosa hereditaria simplex. Dominant inheritance. Immediately after birth or in the first years of life in a small mechanical irritation (friction, pressure, bruised), most often in the hands, elbows, feet, apparently unaltered skin bubbles arise without inflammatory changes in the periphery. In infants bubbles often marked around the mouth. After opening the blisters dry up with the formation of crusts without subsequent atrophy of the skin. The disease does not affect physical and mental development of children. To puberty often there is a clear improvement. Described by Weber and Kokainom (F. P. Weber, 1926; E. A. Cockayne, 1938) syndrome with a dominant pattern of inheritance, characterized by the appearance of bubbles in the feet and palms under the influence of heat, and sometimes cold, it appears, is a seasonal form Epidermolysis bullosa hereditaria simplex.
2. Epidermolysis bullosa dystrophica et hyperplastica. Dominant inheritance. The disease occurs at birth or immediately after birth on the ground, exposed to mechanical irritation (palms, feet, shoulders, elbows). Often, the lesions observed on the mucous membrane of the oral cavity. Bubbles sometimes heal without atrophy, and sometimes with atrophy of the skin or scar. Often around scars are formed epidermal cysts. There is a nail dystrophy. Terminal phalanges not affected. The disease usually does not affect physical and mental development of children. Epidermolysis bullosa albopapuloides [Pasini (A. Раsini), 1928], manifested saldirovannyj scars of white color on the sites of former bubbles, it appears, is a kind of epidermolysis bullosa dystrophica et hyperplastica.
3. Epidermolysis bullosa dystrophica et polydysplastica (A. Touraine, 1942). Recessive inheritance. Characterized by the occurrence of a large number of bubbles in different parts of the skin. Often affects the mucous membranes. Marked pronounced dystrophy, and sometimes the lack of nails; atrophy of the terminal phalanges. Often Mytischi fingers, hands and feet, various dysplasia, xeroderma, acrocyanosis, abnormalities of the teeth, porfirii, etc. Sick physically retarded and the mentally retarded. The disease is chronic, without remission. Bubbles with subsequent ulceration and scarring can occur in the esophagus, lungs and intestines. Severe ulcerative-vegetative forms of bullous bullosa, as well as the so-called lethal form in which children are killed in the first 3 months after birth, apparently, are varieties of Epidermolysis bullosa dystrophica et polydysplastica.
The pathogenesis of bullous bullosa is not clear. When histochemical study of bubbles patients epidermolysis bullosa find out increase of hyaluronic acid that may be associated with a violation of the synthesis of heparin. Sometimes set shortening the time of blood coagulation. When degenerative forms of bullous bullosa a number of authors detected changes elastic tissue in papillary and podarochnom layers outwardly unchanged skin.
The prognosis for life in Epidermolysis bullosa hereditaria simplex, Epidermolysis bullosa dystrophica et hyperplastica favorable. Less favorable prognosis in severe forms of Epidermolysis bullosa dystrophica et polydysplastica.
Radical treatment there. In severe forms of bullous bullosa shown intermittent treatment, injections of gamma globulin and restorative treatment.