14 August

Albinism - symptoms, causes , types

Albinism

Albinism is a congenital disease.The disease implies the absence of the skin, hair, nails, pigment and iridescent eye shells of the pigment melanin.The name "albinism" comes from the Latin "albus", which in Russian means "white."This disease is known a long time, as his descriptions are even found in the documents of ancient Rome and Greece.

Causes of albinism albinism

arises because of the lack of the enzyme tyrosinase, or blockade.It is extremely important for melanin production (the name comes from the Greek word "melanos", which in Russian means "black").Skin color is determined by the amount of melanin in it.What it is, the darker the skin.In those cases where problems with development of tyrosinase is observed, cause of albinism is considered to be a mutation in the genes.

Albinism is inherited from parents.He appears in a child if both parents are carriers of the defective gene.When the defective gene is present in only one parent, albinism does not develop in children, but the bod

y is still a mutated gene that can be passed to the next generation.This whole process is called autosomal recessive inheritance.

Types of albinism Albinism

divided into three types:

  • total;
  • part;
  • partial.

Albinism in people with pervasive view is observed from birth autosomal recessive.In addition to depigmentation of the skin appears dry, hyper- or hypotrichosis (often in open areas), irregularities in the sweat glands.Patients can easily develop keratomas, telangiectasia, epithelioma, actinic cheilitis and sunburn.Observed infertility, cataracts, strabismus, poor eyesight (due to refractive disorders), microphthalmia, mental retardation, abnormal development, immune deficiency (for this reason, are often vulnerable to infectious diseases), and a decrease in life expectancy.People suffer from photophobia and horizontal nystagmus.Since the pupil no pigment, they have a red hue.

Partial albinism, which is also called piebaldizmom also evident from birth.Sometimes it can be a symptom syndromes Klein-Waardenburg, Chedaka-Higashi, Mende, Cross-MakKyuzika-Breen, Tietze, Hermanski-Pudlaka.Typical manifestations are achromia areas with clear boundaries, but the irregular shape on the surface of which there are small specks of dark brown color.In general, partial albinism in humans occurs on the face, legs and abdomen, as well as the hair strands Aged color.At these spots close to the skin of increased pigmentation is often observed.This type of albinism is inherited in an autosomal dominant manner.

Incomplete albinism, which is also called albinoidizmom appears only hair hypopigmentation, iris eyes and skin.Very rarely observed photophobia.The reason is the low activity of tyrosinase, but its synthesis is not blocked.Partial albinism is inherited in an autosomal dominant manner, at least - recessive.

also distinguish the eye and skin and ocular albinism (xanthochromism).The cause is xanthochromism mutation in one of the 4 genes.Signs of the variety of albinism are skin, hair pigmentation, pigmentation of the iris eye and vision problems.Divided into four types:

  • type 1 occurs because of a mutation in the eleventh chromosome.This type of albinism in humans arises from birth.Skin and hair color of milk sick, and his eyes - blue.Sometimes age can begin to make melanin: the eyes and the skin becomes slightly darker.
  • Type 2 occurs due to mutations in the fifteenth chromosome.The skin is white or light brown hair - yellow, reddish or golden brown eyes have a yellowish-brown or blue-gray color.Basically ill residents of the Sahara Desert, African Americans and Indians living in North America.Under the sun on the skin almost instantly appear freckles.
  • 3 type provoking mutation in the ninth chromosome.It is very rare.The skin is brown with a reddish tinge, his eyes - red hair has a red tint.Basically ill people living in southern Africa.
  • 4 type is also extremely rare and is caused by a mutation in the fifth chromosome.Ill mostly people living in south-east Asia.The symptoms are the same as the second type.

signs of albinism

People with albinism, the skin is very soft pale pink color, so it is easy to shine through the capillaries.The skin is very prone to the appearance of telangiectasias (spider veins), epitaleom, keratitis and sunburn.It is also a sign of albinism are very thin and soft hair, which are white, more rarely - yellow.

Treatment albinism

To date, have not yet developed such methods of treatment of albinism in humans, which would have been effective.It is possible to fix only squint by adjusting the eye muscles and vision, as well as partial or total types of albinism can give the skin a yellowish hue, using from 90 to 180 mg of beta-carotene per day.

Tips for patients

Even if the window is not so much the sun shines, you still need to be sure to wear sunglasses and protect the skin by special means having a sun protection factor (SPF) of at least 30. In hot weather, it is not recommended to leaveoutside.Clothing should be made of natural materials and cover the entire surface of the body.It is also advisable to wear hats with wide enough field.A must is a visit in the strict order of the neurologist, ophthalmologist and dermatologist.

Complications

albinism Albinism in humans provokes complications as the physical side, and from the emotions, until the complete social isolation.Physical - skin cancer and severe sunburn.Emotional - discrimination on the part of others, depression and stress.

Prevention albinism

There is only one way to avoid the disease - a genetic survey of couples who are about to become parents.Thanks to modern technology, you can easily detect defects on the part of genetics, the couple, who later become the cause of albinism in children.

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