Albinism is an inborn disease. This disease means absence in skin, hair, nails, pigmental and iridescent eye covers of a pigment of melanin. The name "albinism" comes from the Latin word "albus" which is translated into Russian as "white". This disease is known for a long time as its descriptions find even in documents of Ancient Rome and Greece.
There is albinism because of absence or blockade of enzyme of a tyrosinase. It is extremely important for production of melanin (the name comes from the Greek word "melanos" which in transfer into Russian means "black"). Skin color is defined by amount of melanin in it. Than its is more, especially than dark color skin. When problems with development of a tyrosinase are not observed, the reason of albinism it is considered to be a mutation in genes.
Albinism is inherited from parents. It appears at the child if both parents are carriers of a defective gene. When the defective gene is present only at one parent, albinism at children does not develop, but in an organism all the same there is a mutating gene which can be transferred to the next generation. All this process is called autosomal and recessive inheritance.
Albinism is divided into three look:
Albinism at people with a total look is observed since the birth autosomal рецессивно. Except depigmentation, dryness of integuments, hyper - or a hypotrichosis (it is frequent on open sites), disturbances in work of sweat glands is shown. At patients keratomas, teleangiectasias, epitheliomas, an actinic cheilitis and sunblisters can easily develop. Infertility, cataracts, squint, weak sight (because of refraction disturbances), a microphthalmia, an oligophrenia, maldevelopment, an immunodeficiency (for this reason are often subject to infectious diseases) and longevity reduction are observed. People suffer from a photophobia and horizontal a nystagmus. As in pupils there is no pigment, they have a red shade.
Partial albinism which is also called a piyebaldizm is also shown since the birth. It can sometimes be a symptom of syndromes of Klein-Vaardenburga, Chedaka-Higasi, Mende, Krossa-Makkyyuzika-Brina, Tittsa, Hermanski-Pudlaka. Characteristic manifestations are the sites of an achromia having a clear boundary, but irregular shape at which surface there are small specks of dark brown color. Generally partial albinism at people arises on a face, legs and a stomach, and also in the form of locks of hair of gray-haired color. On integuments, adjacent to these spots, the increased pigmentation is often observed. This kind of albinism is inherited in the autosomal and dominant way.
At incomplete albinism which is also called an albinoidizm there is only a hypopigmentation of hair, irises of eyes and integuments. Photophobia is very seldom observed. Low activity of a tyrosinase is the reason, but its synthesis is not blocked. Incomplete albinism is inherited in the autosomal and dominant way, is more rare – recessive.
Also distinguish eye and skin and eye albinism (ksantizm). The origin of a ksantizm consists in a mutation in one of 4 genes. Symptoms of albinism of this version are skin, hair pigmentation, pigmentation of an iris of eyes and a problem with sight. It is subdivided into four types:
At the people having albinism, skin very soft gentle-pinkish color and therefore easily appear through capillaries it. Skin is very inclined to emergence of teleangiectasias (vascular asterisks), epitaley, keratomas and sunblisters. Also a symptom of albinism are very fine and soft hair which has white color, in more exceptional cases – yellowish.
Today it is not developed such methods of treatment of albinism at people who would be effective. It is possible to correct only squint by means of correction of eye muscles and sight, and also at incomplete or total types of albinism it is possible to give to skin a yellowish shade, using from 90 to 180 mg of beta carotene a day.
Even if behind a window the sun not so strongly shines, all the same it is necessary to wear sunglasses and to protect face skin the special means having a factor of protection (SPF) not less than 30. In hot weather it is not recommended to go outside at all. The clothes have to be from natural materials and close all body surface. It is also desirable to carry the headdresses having rather wide fields. Visit in a strict order of the neurologist, ophthalmologist and dermatologist is obligatory.
Albinism at people provokes complications, both from the physical party, and from emotions, up to full social isolation. Physical – skin cancer and serious sunblisters. Emotional – discrimination from other people, depressions and stresses.
There is only one way to avoid a disease – genetic inspection of couples which are going to become parents. Thanks to modern technologies it is possible to find easily defects from genetics at spouses who become afterwards the albinism reason at children.
At regular visit of a sunbed the chance to develop a carcinoma cutaneum increases by 60%.
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