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Albinism, or congenital albinism, is a hereditary lack or deficiency of a pigment in the skin, hair and iris of the eye. People who have these characteristics are called albinos - they have very fair skin, white hair, eyelashes and eyebrows. However, albinism is also often associated with impairment. Find out what are the causes and symptoms of albinism and if it is possible to treat it.

Albinism (congenital albinism) , which is commonly considered a disease, is actually a defect consisting in the lack of pigment (pigment) in the eyes, skin and hair, which is melanin. Congenital albinism usually shows up after birth, unlike vitiligo which shows much later.

Albinism is relatively rare - it happens once in 10,000,000 births (the exception is Tanzania, where 1 albino is born in 200 children). Apart from proper (generalized) albinism, there is also local (partial) albinism.

Albinism (congenital albinism) - causes

Albinism is a genetic disease, therefore gene inheritance is the determining factor in this disease, i.e. for a child to develop features of albinism, it must inherit both from the mother and from the father (or only from one of the parents). ) one gene responsible for the defect.

This disease is inherited completely by chance, so it can affect all ethnic groups. It is not uncommon for the parents of the albinos to be he althy despite carrying the abnormal gene.

The immediate cause of albinism is the lack of an enzyme - tyrosinase - that converts the melanin precursor into the pigment melanin.

Albinism (congenital albinism) - types and symptoms

1. Generalized congenital albinism (proper albinism)

For a child to develop the symptoms of generalized vitiligo, he or she must inherit one gene responsible for the defect from both the mother and the father. From birth, a child with this type of defect has light pink skin (it is caused by the showing of blood vessels through thin, very light skin). Initially, small discolored patches are visible on the body of the newborn. Over timewhitewash spotsincrease in size and begin to mergewith each other, occupying an area of ​​the entire body.

Albinos is extremely hypersensitive to sunlight, as it does not produce melanin, which protects the skin against the harmful effects of sunlight. As a result, albinos often develop erythema, blisters, erosions and hyperkeratosis of the skin.

People suffering from congenital vitiligo may also have white or white-yellow hair and, very rarely, pink or red irises of the eye (in fact, the iris of the eye is most often colorless, only blood vessels show through it - hence the color) . Typically, albinos are able to produce enough melanin to tint the eye light blue. Vitiligo of the skin is accompanied by vitiligo of the nails and visual disturbances, e.g. photophobia, nystagmus, changes in the retina.

2. Partial congenital albinism (local albinism)

A child must inherit the abnormal gene from only one parent in order for a child to develop the symptoms of PCL.

Partial albinismusually manifests as a discoloration of the skin, wherevitiligo spotsline the nerves and hair. The most common skin discoloration is on the midline of the forehead, and it can also affect the hair, eyelashes and eyebrows. In fact, changes never appear on the skin of the hands and feet. People suffering from this disease sometimes have a different color of the iris.

In this case, it may be that the child does not get the disease despite having adopted the gene responsible for the disease.

Albinism (congenital albinism) and impairment

Vitiligo may also be accompanied by other symptoms. In addition to changes in the skin, there may be some types of disorders, e.g. eye disease or hearing impairment. The inheritance of these syndromes is slightly different from that of congenital albinism. One of such syndromes is, for example, Mende's syndrome, in which whitewash spots are accompanied by deaf-mute.

Albinism (congenital albinism) - is treatment possible?

Albinism cannot be cured. The patient should only avoid exposure to sunlight. For this purpose, he should use sunscreen with a high UV filter.

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Category:

Dermatology