Akrogeriya is family
Akrogeniya family – extremely rare hereditary disease which concerns to group of an atrophic dermatosis. Symptoms of a disease is thinning and an atrophy of integuments on disteel sites of extremities, the forearm and a face in certain cases can be surprised. Diagnostics is made on the basis of a research of a condition of skin at patients with a family akrogeriya, histologic studying of material of a biopsy, drawing up the hereditary anamnesis. Effective treatment is not developed for today, with variable success use vitamin medicines and biogenous stimulators.
Akrogeriya is family
Akrogeriya family (Gottron's syndrome) – the rare form of an atrophic dermatosis of skin striking mainly integuments of brushes, feet, forearms, sometimes persons (especially in a nose). It was for the first time described in 1941 by the German dermatologist H. Gottron. It possesses the theory that the family akrogeriya represents the weakened or abortive form of a progeriya (Getchinsona-Gilford's syndrome). At the moment in scientific community of other popular theories of development of this disease does not exist. Occurrence of a family akrogeriya because of a considerable rarity of a disease is not defined. The dermatosis mainly strikes women, however the reasons of this phenomenon are also not clear. Gottron's theory is spoken well also by existence of inheritance of a family akrogeriya, emergence on its background of other symptoms and malformations characteristic of a progeriya.
Reasons of a family akrogeriya
Practically nothing is known of immediate causes of a hereditary atrophic dermatosis – by studying of the hereditary anamnesis of patients was suggested that it is given on autosomno-recessive type. The pathogenesis is almost not studied, different scientists theories move forward that at a family akrogeriya violation of functions of fibroblast of certain sites of skin, defects of structure and formation of collagen, insufficiency of a hypophysis takes place. The skin atrophy at the same time has changes, similar with a progeriya, which, however, settle down only on certain parts of the body. Whereas other characteristic manifestations of a syndrome of Getchinsona-Gilford (a nanizm, a subtlety of hair and an early alopetion, a hypoplasia of genitals) at a family akrogeriya are never registered.
Symptoms of a family akrogeriya
Manifestations of a family akrogeriya advantage are found in girls, their identification right after the birth or in the first years of life of the child is possible. Skin on brushes and feet becomes thinner, takes the yellowish, "pergament" form very strongly similar to senile changes of integuments. Through the become thinner skin blood vessels are well visible. Dermatological changes not only on extremities, but also on a face are possible – for example, on a face quite often there is a bright eritema. Besides, the atrophy of integuments at a family akrogeriya can develop also on a face, especially on a nose tip. At the same time skin appendages on affected areas remain, activity of processes of sweating remains without changes.
Besides skin symptoms, at a family akrogeriya also other manifestations quite often take place. The most frequent of them is the akromikriya – reduction of the relative sizes of brushes, fingers are thinned, sometimes have the cone-shaped form. The mikrognatiya, violation of formation of a tooth alignment can be registered – besides curvatures and defects the delay of change of milk teeth with radical is observed. The frequent satellite of a family akrogeriya is the sklerodermiya, fragility and a subtlety of blood vessels. Because of it on skin of patients bruises even are easily formed at insignificant influence. Symptoms of atrophic gastritis because of early involution of a mucous membrane of a stomach are also found in adults over time.
Diagnostics of a family akrogeriya
In dermatology diagnostics of a family akrogeriya often does not represent a problem because of characteristic displays of a disease. However the considerable rarity of this state after all can lead to the fact that it will be distinguished not at once. Besides survey, apply histologic researches of a bioptat of skin, radiological techniques, inquiry of the patient concerning existence to diagnostics or lack of similar changes at his relatives. The histologic picture of the struck integuments at a family akrogeriya is quite typical for an atrophic dermatosis – the expressed atrophy terms, the degenerate and randomly located collagenic and elastinovy fibers. At the same time hypodermic cellulose can keep quite usual and healthy look, the same situation and with epidermis – pathological changes affect only to a term. Also in a bioptata dystrophic changes of fibroblast are observed – they are increased in sizes, have numerous inclusions in a look a vacuole.
At a family akrogeriya of change mention also structure of bones, especially disteel departments of extremities. On roentgenograms consolidation of a compact layer, bone infantility is observed, processes of a sklerozirovaniye sometimes are found. By inquiry of the patient it is possible to make his hereditary anamnesis – in many cases of manifestation of a family akrogeriya were observed at his relatives that speaks about the genetic nature of pathology. Consultation of the geneticist is recommended. Differential diagnostics should be carried out with the acquired gerodermiya forms, an atrophic chronic akrodermatit and other degenerate skin pathologies.
Treatment, forecast and prevention of an akrogeriya family
Etiotropny treatment of an akrogeriya family does not exist today as neither the etiology, nor pathogenesis of a disease are still defined. It is recommended to apply the general and local means improving food of fabrics – on the basis of vitamins (tocopherol, Retinolum), a haemo derivative of blood of calfs, and also vasoprotectives. Efficiency of these means is not identical at different patients. The forecast concerning the patient's life favorable, but in respect of recovery – uncertain or adverse. Patients should avoid considerable mechanical impacts on affected areas of skin as it can lead to development of bruises and scars, and also to accelerate processes of an atrophy.