General Practice 2022

Albinism: what é, features, causes and care

Table of contents:

Albinism: what é, features, causes and care
Albinism: what é, features, causes and care

Albinism is an inherited genetic disease in which the body's cells are unable to produce melanin, a pigment which, when lacking, results in a lack of color in the skin, eyes, hair and hair.

Thus, an albino's skin is usually white, more fragile and sensitive to the sun, while the eye color can vary from very light blue almost transparent to brown.

Furthermore, albinos also have an increased risk of developing some he alth problems, especially vision problems such as strabismus, myopia or photophobia, or skin cancer. For this reason, it is important that the person with albinism is regularly monitored by an ophthalmologist and dermatologist in order to prevent these complications.

Key features

Albinism can be identified through some characteristics presented by the person that are related to the total or partial absence of pigmentation.

According to where pigmentation is not verified, albinism can be classified into:

  • Ocular albinism, in which total or partial absence of pigmentation of the eyes is verified;
  • Cutaneous albinism, in which the person has little or no melanin in the skin and/or hair and fur;
  • Oculocutaneous albinism, in which there is a lack of pigmentation throughout the body.

In addition, due to the fact that there is little or no melanin, which is a substance that guarantees the skin's protection against the effects of the sun's ultraviolet rays, it is possible for an albino person to show signs of premature aging in the skin. and increased risk of skin cancer.

The diagnosis of albinism is made by the dermatologist or general practitioner through observation of the signs and symptoms presented by the person, which can be confirmed by genetic laboratory tests that identify the type of mutation and, thus, it is possible that the doctor indicate the most appropriate care for the person.

Possible causes

Albinism is caused by a genetic alteration related to the production of melanin in the body, which is a pigment responsible for giving color to the skin, hair, hair and eyes, as well as protecting the skin against the sun's ultraviolet rays. Melanin is produced by an amino acid known as tyrosine and what happens in an albino is that this amino acid is inactive.

Albinism is a hereditary genetic condition, which can be passed from parents to children, requiring that a mutated gene be inherited from the father and another from the mother for the disease to manifest. However, an albino person can be a carrier of the albinism gene and not manifest the disease, since this disease only appears when this gene is inherited from both parents.

Important care

Albinism is a hereditary genetic disease that has no treatment or cure, however it is important that the person has some care in everyday life to preserve their he alth, since due to the absence of melanin, there is greater skin sensitivity mainly. Thus, some precautions that must be followed are:

  • Wear hats or accessories that protect your head from the sun's rays;
  • Wear clothes that protect the skin well, such as long-sleeved shirts;
  • Wear sunglasses to protect your eyes from the sun's rays and to avoid being sensitive to light;
  • Apply SPF 30 or more sunscreen before leaving home and exposing yourself to the sun and its rays;
  • Use a vitamin D supplement, as it is not advisable to expose yourself directly to the sun and vitamin D is important to promote the proper functioning of the immune system and bone he alth.

Babies with this genetic problem should be followed up from birth and the follow-up should last a lifetime, so that their he alth status can be regularly assessed, and the person should be frequently monitored by a dermatologist and by an ophthalmologist.

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