Congenital ikhtioziformny eritrodermiya of Brock
Congenital ikhtioziformny eritrodermiya of Brock – one of forms of a congenital ikhtioziformny eritrodermiya which distinctive feature is prevalence of the phenomena of a giperkeratoz over other clinical symptoms, absence of rashes on mucous membranes. Primary elements are the eritematozny spots possessing a tendency to peripheral growth with giperkeratotichesky stratifications or small vesicles. Point in diagnostics the family anamnesis and clinic is decisive, as confirmation the histologic research is conducted. Treatment symptomatic – moistening and mitigation of skin, periodic rates of vitamin A, corticosteroids.
Congenital ikhtioziformny eritrodermiya of Brock
Congenital ikhtioziformny eritrodermiya of Brock – a rare kind of the universal giperkeratoz arising from the moment of the birth. For the first time the disease was described by the French dermatologist Louis Brock in 1902. The wide practical experience and a significant amount of clinical observations gave to the scientist the chance the first to describe a number of a dermatosis known and today under his name: Brock's psevdopelada, lyupoidny Brock, congenital ikhtioziformny eritrodermiya of Brock. For characteristic appearance of skin at a congenital ikhtioziformny eritrodermiya the researcher neatly called pathology "a disease of fish scales". Nuances which formed the basis of a differentiation of clinical manifestations of an ichthyosis belong, including, to L. Brock. Because of a rarity of skin pathology data on an endemichnost, prevalence are unknown. At a dermatosis I am absent racial, age, gender components. The disease is of practical interest to experts in the field of genetics and dermatology.
Reasons of a congenital ikhtioziformny eritrodermiya of Brock
The causes of a congenital ikhtioziformny eritrodermiya of Brock are connected with the hereditary, gene pathology caused by various level of defeat of the genetic device and which is clinically shown in different components terms. At a congenital ikhtioziformny eritrodermiya of Brock, first of all, epidermis suffers. Its thickness, operation of the ferruterous device of skin, pigmentation are defined by features of a genotype of the person. Genes control production of proteins and activity of fermental processes. "Incorrect" work of enzymes is reflected in clinic of a disease.
The condition of skin at which formation of dry, dead cages terms on certain sites of an integument or on all its surface prevails is connected with inheritance type: autosomno-prepotent (congenital bullous ikhtioziformny eritrodermiya) or autosomno-recessive (congenital not bullous ikhtioziformny eritrodermiya). The bullous form is caused by mutations in the genes located on 12 both 17 chromosomes and coding synthesis of a keratin 1 and 10; not bullous form arises at a mutation of a gene epidermalny transglutamineelements, localized on a chromosome 14q11. Weight of clinical manifestations and the forecast of the arisen disease depends on type of the inherited mutations. The prepotent type of inheritance is characterized by softer current and the favorable forecast, recessive – on the contrary. The regularities leading to mutations are studied not up to the end. Consanguinity of parents increases risk of a disease at children.
Autosomno-dominantny the inheritance type always gives 50% of healthy successors, 50% of patients. At autosomno-recessive type of inheritance of a dermatosis options are possible. If both parents are not sick, but are pathology carriers, then in 25% their children will get sick surely; 25% will be healthy, and 50% will inherit a carriage. If one of parents is sick, and the second – the carrier, then probability of a disease makes 50%. If both parents are sick, there are no options of the healthy birth. If at healthy parents the sick child is born - it is a new spontaneous mutation of a gene.
Symptoms of a congenital ikhtioziformny eritrodermiya of Brock
Clinically congenital ikhtioziformny eritrodermiya of Brock is divided into two options: bullous (with formation of bubbles) and not bullous (Sukhoi). Not bullous congenital eritrodermiya of Brock is characterized bright diffusion congenital eritemy, dense to the touch against the background of which the plentiful peeling in the form of the giperkeratotichesky, translucent brown scales capable to separate the whole layers appears. Except dryness, there is a feeling of tightness of skin.
At easy degree of a dermatosis only the face, palms and soles are involved in process. The heavy current takes is total all integument. The child cannot normally breathe, suck, open a mouth. Sweat glands work badly therefore a heat or the slightest physical activity lead up to 40 degrees to rise in temperature. Through cracks in epidermis moisture is lost, there comes dehydration. Often such changes come to an end with a lethal outcome. If the kid survives, then skin pathology remains for the rest of life. Over time the hair loss joins skin manifestations, up to full baldness; work of sweat apokrinovy glands is broken. Skin becomes dense and in lips, ears, the century leads to deformations (skin eversions).
As distinctive feature of a congenital bullous ikhtioziformny eritrodermiya serves emergence of bubbles and elements of peeling of epidermis against the background of eritematozno the changed skin at once after the birth. The integument is edematous, ё. Easy degree of a disease is characterized by single primary elements with horn scales, independent permission of process by 3-5 years. At heavy degree bubbles cover all integument, are opened, forming sites a moknutiya, creating risk of accession of a secondary infection, are transformed to giperkeratotichesky crusts.
If process is localized pleated skin, on razgibatelny elbow surfaces, in popliteal poles, axillary hollows the warty growths of a soft consistence strongly adjacent to a term forming the drawing reminding velveteen are formed. "Warts" unpleasantly smell. Sometimes bubbles pour out only on palms and soles, merge among themselves, opened, become covered by keratin scales, are resolved, leaving behind small pigmentation. On a hairy part of head skin the process reminding seborrhea "smolders", hair are kept, nails dim and reinforced. With age pathological process tends to improvement.
Diagnostics and treatment of a congenital ikhtioziformny eritrodermiya of Brock
Diagnose a disease on the basis of the anamnesis and clinic. Histologically at "dry" option the granular layer of epidermis is hypertrophied, in a term inflammatory infiltrate, is defined. The Puzyrny option gives a granular degeneration of cages of a malpigiyev of a layer. Differentiate a congenital ikhtioziformny eritrodermiya of Brock with all kinds of a true ichthyosis on the basis of a histologic research. Carry in addition out blood, separated bubbles for the purpose of an exception of sepsis, a secondary infection.
Pathogenetic treatment is absent. Taking into account weight of process of newborns place in intensive care unit, maintaining high humidity of air and controlling dehydration, symptoms of a secondary infection. In the first days hold consultations of the dermatologist and geneticist. Bathtubs with the subsequent moistening of skin the softening creams (children's cream) are shown. Shock means of the main therapy – a retinoida (vitamin A, its synthetic analogs). Accept them courses, according to individual schemes, in big dosages. Periodically conduct full kliniko-diagnostic examination for the purpose of monitoring of a functional condition of a liver, kidneys, a cardiac muscle. At a bullous form resistance to medicines of group of vitamin A is noted, in this case connect corticosteroids to treatment. Vitamin therapy is recommended. Bathtubs with bran, starch, sea salt give good effect. Outwardly apply the softening, kortikosteroidny ointments with addition of 3% of salicylic acid in a proportion 1:1.
Forecast and prevention of a congenital ikhtioziformny eritrodermiya of Brock
To live with the skin affected with a congenital ikhtioziformny eritrodermiya of Brock difficult, especially to children. Sometimes patients need support of the psychologist. Constant dispensary observation of the patient with annual antirecurrent therapy is necessary. During the remission periods – daily, prolonged use of the creams softening skin. The forecast depends on weight of pathology, timeliness of the begun treatment. The lethal outcome is possible.
As the congenital ikhtioziformny eritrodermiya of Brock is a rare gene dermatosis, with the preventive purpose when planning pregnancy prenatal medico-genetic inspection of married couples with the burdened hereditary anamnesis, the subsequent consultation of the geneticist, adoption of the weighed decision on a child-bearing is necessary. At detection of pathology in the course of pregnancy its interruption is shown.