Albinism

Albinism in man manifests itself in the absence of normal pigmentation on the skin, hair, iris of the eyes. This anomaly is a hereditary trait, depending on the presence of a recessive, suppressed gene in the homozygous state. Albinism in humans is often referred to as hypopigmentation. The disease is attributed to very rare disorders and in different countries the indicator is different. For example, in the US and Europe, five people per 100,000, and in Nigeria, one in every 20 to 100,000. The name of the disease comes from Latin, which means white. Most parents of children with this genetic disorder have no signs of albinism and have normal hair color, as well as eyes. Parents of children with albinism should be attentive and in time to consult a doctor when bruising and unusual bleeding occur.

Albinism causes

Albinism in humans is a hereditary condition that is inherent from birth. This condition is marked by the absence of melanin, a pigment responsible for skin color, hair and eye color.

Albinism and its causes are associated with the absence or blockade of the tyrosinase enzyme. In this case, parents and parents albino can pass this feature to the child, but they themselves do not get sick. The enzyme tyrosinase is very important for the production of melanin. In Greek, melanin means black. The more melanin, the darker the skin. If there are no problems with tyrosinase production, then the cause of albinism is a mutation in the genes.

The skin of all healthy people has melanin, but it does not have albinos. True, some healthy people have much more melanin compared to others. Especially suffer from this girl, chasing after sunburn and beauty in the summer. And what about albinos? Parents are important from childhood to explain to the child that he is not like everyone else, but unique. And this is his charm and personality. The child is important to surround with attention, love and care, and in the pubertal period guard against the attacks of adolescents and teach to resist evil from the side of society. If it's difficult to handle on your own, you need to resort to the help of professional psychologists, since an albino teenager may have autoaggression, depression, neurosis, and psychosis.

There are different types of albinism in man and each of them is related to the lack of pigment in different ways. This condition can be accompanied by various vision problems, and sometimes provoke skin cancer.

Albinism is inherited by the child, if both parents have handed him the defective gene. In the presence of a gene, a single parent does not have a disease, but there is a mutated gene in the body that is passed on to the next generation. This process was called autosomal recessive inheritance.

Signs of albinism

Albinism, being an inherited condition, is caused by a change in several or one gene. These genes take responsibility for the management of production, as well as the concentration of melanin in the very iris of the eyes and, of course, the skin. Therefore, people can have various problems with vision: hyperopia, myopia, astigmatism( curvature of the lens of the eye).Patients are able to observe involuntary, constant movements of the eyeball, which are called nystagmus. The skin of the albinists is a gentle pink color, through which capillaries are easily visible, and the hair is thin and very soft, having a white or yellowish color.

Signs of albinism are expressed in problems of eye coordination, as well as tracking and fixing for objects. The sick can lower the depth of visual perception, and photophobia can occur.

Most melanin diseased in the skin do not, which causes sunburn and the inability of sunburn. If the skin is not protected, then eventually skin cancer can develop.

Oculocutaneous albinism .This type of albinism in humans is the most common. In severe forms of albinism, the skin and hair remain wholly white all their life. The owners of less severe form in the process of life, white hair and skin a little dark, which is associated with the aging process. Those who are ill with oculomotor albinism are able to suffer from nystagmus( pesky ciliary eye movement, as well as from increased sensitivity to light).Sometimes there are other problems with vision( poor eyesight, strabismus).

Eye albinism .This type in humans is the second most common. Eye albinism manifests itself in the absence of pigmentation of the iris of the eyes. The color of the skin, as well as the hair at the same time, remains normal. Certain types of eye albinism cause quite a lot of problems with vision.

Albinism distinguishes three types: total, incomplete, partial.

Total albinism is characterized by dry skin, the presence of diseases( hypertrichosis, keratoma, hypotrichosis, actinic cheilitis, epithelioma), impaired sweating and rapid burning( sunburn).Patients with strabismus, cataract, microphthalmia, poor vision, oligophrenia, immunodeficiency, decreased life expectancy. People suffer from horizontal nystagmus, photophobia, and since there is no pigment in the pupils, the eyes have a red tint.

Incomplete albinism is noted only by hypopigmentation of hair, skin, iris of the eyes.

Partial albinism manifests itself from the moment of birth. This species is characterized by the appearance of specks of brown hue or pigmentation on the abdomen, face, legs, in the form of a ponytail of gray hair.

Diagnosis of the disease

It is very difficult to diagnose the presence of a mutated gene in humans. It is necessary to carefully study the family history and the next of kin. There is a specially developed blood test, which allows to identify some types of albinism. A similar study is conducted during the intrauterine development of the baby.

The fifth week of pregnancy allows to conduct a test of chorionic villi, which will determine some types of albinism.

Albinism treatment of

Treatment of albinism in humans is unsuccessful, because it is impossible to fill a deficiency of melanin or prevent a visual disturbance provoked by albinism.

Patient should avoid long-term exposure to the sun and before applying to the street to apply light-protective means - cream, lotions, glasses. In hot weather, it is necessary to sit out at home whenever possible. Sometimes, surgical intervention is prescribed with strabismus in order to correct oculomotor muscles.

But the developing changes at the pathological level in the nerves and the retina of the eye can often not be eliminated. Incomplete and total albinism for giving the skin a yellow hue is corrected by beta-carotene( up to 180 mg per day).

In preventive measures to prevent the transmission of anomalies, genetic and genetic counseling, a visit to a neurologist, dermatologist, ophthalmologist is genetically necessary.