Albinism

Description:

Albinism (albinismus) represents inborn lack of a skin pigment.

Albinism symptoms:

Allocate total, incomplete and partial albinism.

Total albinism is inherited autosomal рецессивно with an average frequency of 1: 10 000-20 000. Assume that carriers of a mutant gene make 1,5% among all normally pigmented people.

Depigmentation of skin and appendages is observed since the birth, is followed by a xeroderma, sweating disturbance, sometimes hypo - or a hypertrichosis, especially on open sites. Patients easily have sunblisters, an actinic cheilitis. They are predisposed to development of keratomas, epitheliomas, teleangiectasias. Due to the lack of a pigment in eye tissues pupils seem red. The horizontal nystagmus and the expressed photophobia are characteristic. The meeting squint, decrease in visual acuity as a result of disturbances of a refraction, a cataract are often observed, the microphthalmia is possible. Infertility, an immunodeficiency (from here frequent infections), malformations, reduction of life expectancy, mental retardation are quite often observed.

Incomplete albinism (Xing.: the albinoidizm), unlike the previous form, is inherited autosomal is prepotent, in certain cases - retsessivno. Decrease of the activity of a tyrosinase, but not blockade of its synthesis takes place. The hypoxanthopathy, a hair, irises, sometimes photophobia is observed. Other defects and anomalies are not registered.

Partial albinism (Xing.: the piyebaldizm) is inherited autosomal is prepotent. Manifestations come to light at the birth. It is characterized by emergence of sites of an achromia on skin of a stomach, the person, the lower extremities, locks of a gray hair. The depigmented spots of irregular shape with sharp borders, on their surface are available small dark brown specks. Around akhromichny spots skin can be pigmented. Defeats of other bodies usually do not happen. Partial albinism is one of manifestations of syndromes of Chediak - Higasi, Klein - Vaardenburga, Tittsa, Mende, Hermanski - Pudlaka, the Cross-country - Makkyyuzika - Brin.

Albinism histopathology. In the depigmented skin melanocytes with morphologically changed melanosoma, and also Langergans's cells are found. In the decoloured hair melanocytes are absent.

Albinism reasons:

The etiology and pathogeny are studied insufficiently. It is known that as a result of disturbance of synthesis of enzymes of a tyrosinase, a dofaoksidaza formation of melanin from tyrosine, dioxyphenylalanine stops. Such anomalies as inborn deafness, defects of intelligence, pathology of eyes and others which are quite often accompanying it testify to complexity of mechanisms of an origin of albinism.

Treatment of Albinism:

There are no effective methods of treatment. Use of photoprotective equipment, decorative cosmetics is shown. For giving to skin of a yellowish shade at total and incomplete albinism recommend to appoint beta carotene (90-180 mg/days).