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March 20, 2012
Ichthyosis – a skin disease of which disturbance of keratinization of integuments is characteristic. Treats group of hereditary dermatological diseases. The ichthyosis etiology is completely not studied, it is known only that the disease is caused by biochemical defect of group of mutant genes. At the same time several clinical forms of an illness depending on group of the mutating genes differ.
Ikhtioza thyroid glands are followed by insufficiency of vitamin A, hypofunction of gonads. Pathological process of an ichthyosis reminds psoriasis, but more aggravated. Development of a hyperkeratosis at an ichthyosis leads to emergence on integuments of scales similar on fish scales, as defines the name of an illness.
On extent of damage of skin – keratinizations, in dermatology distinguish about 28 various forms of an ichthyosis, and also several seldom found syndromes at which the ichthyosis acts as a symptom. It is a symptom of syndromes Ore, Shegrena-Larson, Refsum and of river. Various expressiveness of a hyperkeratosis from an easy roughness of skin, before strongly expressed pathological changes, often incompatible with life is observed.
As all main forms of a disease have hereditary genesis, distinguish them on two groups of an autosomal and dominant mode of inheritance and recessive type – the H-linked ichthyosis. Depending on group of a disease clinical manifestations, complexity of a current, the forecast of an illness differ. The first group occurs equally often and men and women, and the second only at men that is caused by type of mutant genes.
Among all forms of an ichthyosis of 80-95% occupy ikhtioza on autosomal dominantly type of heredity. The most frequent form — an ichthyosis vulgar which actually is also divided into several types.
Symptoms of an ichthyosis are characterized by diffusion damage of skin of a trunk and extremities which have different degree of manifestation. Stratifications different in color and a form of scales are observed, skin becomes rough, dry. Scales have color from whitish almost transparent to gray-black. The greatest expressiveness of defeats in places of extension of extremities – areas of knees and elbows. At the same time the neck and surfaces of a bend of elbows and knees are not surprised.
Also in a clinical picture of development of an ichthyosis the White's disease acts. To mouths of hair follicles small dry small knots are formed, hair become thinner, become rare, fragile. Face skin most often is surprised at adults, the peeling of cheeks and a forehead appears. Palms and soles have the expressed skin drawing, the mukovidny peeling is strongly expressed.
On kninichesky signs the ichthyosis vulgar is subdivided into several types. The xerodermia – differs in an easy current, is characterized by dryness and an easy roughness of skin, generally on an extensor surface of extremities. The simple form of an ichthyosis – change of integuments covers all trunk, extremities and pilar area of the head.
Symptoms of an ichthyosis of simple type it is small scales which are attached to the basis by the central part. Also distinguish ikhtioza: white (scales white, mukovidny); shining (scales transparent in the form of a mosaic are localized on extremities); serpentine (large grayish-brown scales are located as a snake cover).
Most often all above-mentioned types are regarded as a vulgar ichthyosis in different degree of manifestation. During puberty symptoms of an ichthyosis weaken, renew later. The disease lasts all life, without passing into another, as a rule, aggravations come from one form in a cold season.
Histologic diagnosis of an ichthyosis vulgar also reveals recessive type of an ichthyosis. During genetic researches this group of ikhtioz of earlier revealed vulgar ichthyosis was allocated. In full the illness is shown only at boys.
The ichthyosis recessive H-stsepleny differs in inborn defeat, most often the course of a disease occurs on 4-5 month of fetation whereas the ichthyosis vulgar is shown after the first year of life of the child. The H-linked ichthyosis is also divided into several forms which differ on weight of a current and characteristic clinical manifestations.
The fruit of the Harlequin or ichthyosis of a fruit one of inborn forms of an illness, development occurs in the embryonal period. The clinical picture of an illness completely forms till the child's birth.
Fruit ichthyosis symptoms at newborns consist in a checkmate of integuments. Skin is dry, reinforced, the horn armor covering skin consists of the horn guards having gray-black color. Palms and soles are also affected with a diffusion keratodermia. Auricles, a mouth and a nose are deformed, extremities ugly, eyelids, as a rule, vyvorochena. Also other accompanying defects of a fruit can be observed. The most part of the children having an ichthyosis of a fruit are born already dead. But also given rise by live die after the birth, the survived children with such defects of unit.
The ichthyosis of epidermilogicheskiya — an inborn form of an illness, is shown right after the birth. Characteristic symptoms of an ichthyosis are expressed as "a colloid fruit" — the fruit is covered with a film, after rejection which skin of the child looks scalded. Bright red color of integuments is observed, extensive sites of epidermis exfoliate, formed erosion and bubbles. Keratinization of skin happens on 3-4 year of life, at the same time horn stratifications in the form of combs have a concentric arrangement, stratifications thick, brown color. "The colloid fruit" is observed also at other forms of an ichthyosis – a lamellar ichthyosis, a dry ikhtioziformny erythrosis.
Also several forms of an ichthyosis which meet extremely seldom are observed. The ichthyosis unilateral is characterized by unilateral localization of pathological changes. The half of the face, trunks and extremities from the right or left side is surprised. On clinical signs this form is distinguished as one of options of an ikhtioziformny erythrosis. The ichthyosis thorny — meets very seldom. At the birth it is shown by the expressed erythema which weakens later, and linear sites with verrukozny horn stratifications are formed. Keratinizations and diffusion peelings remind hedgehog needles.
Diagnosis of an ichthyosis
Primary diagnosis is made on the basis of a clinical picture of an illness. And for specification of the diagnosis further researches are appointed.
As also such form of a disease is possible as the acquired ichthyosis which, in fact, is only an ikhtioziformny state provoked by other diseases diagnosis of an ichthyosis of hereditary type is carried out at the level of research of genes, cells of fabrics. Disturbance of an expression of genes which code keratin forms is the cornerstone of the majority of forms of an ichthyosis. Therefore various disturbances also lead to different forms of an illness.
So at diagnosis insufficiency of a transglutaminase of keratinotsid is found out, for example, that it is characteristic of a lamellar ichthyosis. Accelerated promotion of keratinotsid to a skin surface is observed. The H-linked ichthyosis is diagnosed in the presence of hardening of bonds of cells – a retentsionny hyperkeratosis. Also increase in loss of water through integuments is characteristic. Disturbances of a differentiation of keratinotsid and development of a defective keratin provoke formation of bubbles and to a skin thickening that diagnoses an epidermolitichesky ichthyosis.
Complications of an ichthyosis
With age disease is facilitated, unlike other diseases which are only aggravated, leading to complications. Complications of an ichthyosis most often consist in associated diseases or inborn defects. Such complication as an atopy – the increased allergic sensitivity is often observed. Also insufficiency of function of endocrine system and immunodeficiency (immunodeficiencies) is noted.
The H-linked ichthyosis in the development can be followed by an underdevelopment and pathologies of generative organs. Such complication as a hypogonadism is observed, generative organs and secondary sexual characteristics do not develop in connection with decrease in secretion of sex hormones. Quite often there are such inborn pathologies as a cryptorchism or a monorchism, lack of one, and sometimes and both testicles at a scrotum.
Treatment of an ichthyosis
At treatment of an ichthyosis complex therapy, generally treatment of an ichthyosis symptomatic is applied. The main means in the general therapy vitamin A in combination with fortifying means. Drugs with the high content of vitamin A, and also its analogs – retinoids, are appointed cycles several times a year. Reception of such drugs is recommended by 2-3-month courses. Continuous supervision at reception of retinoids, for the timely termination of administration of drugs in case of their toxic impact on an organism is recommended.
Treatment of an ichthyosis demands moistening of the keratosic sites of epidermis, loss of water through skin is very considerable and continuous recovery of a water balance is necessary. For this purpose appoint frequent bathtubs, they can be salt, soda, starched, sulphidic and others. Also use of therapeutic silt and peat muds is recommended.
From outside medical supplies keratolytic means with the content of glycerin, propylene glycol and lactic acid are appointed. These drugs are used without bandages. With an occlusive bandage it is recommended to use the drugs containing salicylic acid, and also urea.
Except medical supplies a number of physiotherapeutic procedures is appointed: heliation, thalassotherapy, REPUVA-therapy, UV rays.
Section: Dermatology (Skin diseases)