The 3 Treatments For Albinism!
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People with this type of albinism have light pigmentation at birth (white, yellow, or darker hair in black people, pink skin , presence of freckles, blue or brown eyes in black people). The most severe form of this disorder is called oculocutaneous albinism and affected people have white hair , skin, iris color and vision problems.
Another type of albinism , called ocular albinism type 1, affects only the eyes , and the eye exam shows the absence of pigmentation in the back of the eye (retina). Hermanski-Pudlak syndrome is a form of albinism caused by a single gene and can occur with a bleeding disorder as well as lung and intestinal pathologies.
Other complex diseases can lead to loss of pigmentation in only one place on the body ( localized albinism ), these can be: Chediak-Higashi syndrome (lack of pigmentation in the entire skin , but not complete depigmentation); Tuberous Sclerosis: (small depigmented areas); Waardenberg syndrome (usually the person has a part of their hair and one or both eyes without pigmentation).
Causes of Albinism: Albinism is caused by a genetic mutation. Several genes may be involved in the causes of the disease , each of which provides specific instructions for the production of various proteins involved in the production of melanin.
Melanin is produced by cells called melanocytes, which are found in the skin, hair and eyes . The genetic mutation can result in the total absence of melanin or a significant decrease in the amount of melanin produced by the body , leading to the classic signs and symptoms of Albinism .
Symptoms of Albinism: The symptoms are variable according to the type of mutation presented by the patient. The mutation involved determines the amount of melanin produced, which may be totally absent or partially present.
Therefore, the skin tone can vary from white to slightly more brownish tones; the hair can be completely white, yellowish, reddish or brownish and the eyes reddish (complete absence of pigment, revealing the retinal vessels), blue or brownish.
Due to the deficiency of melanin, a pigment that, in addition to being responsible for skin color , protects it against the action of ultraviolet radiation, albinos are highly susceptible to damage caused by the sun. Often presenting, premature aging, actinic damage and skin cancer , still very young.
It is not uncommon to find albinos in their 20s and 30s with advanced skin cancer , especially those who live in hot regions and are exposed to prolonged and intense solar radiation.
Currently, there are 7 genes involved in Albinism . In each of the genes identified, different mutations can occur, which determines a great variability in the clinical presentation.
In type I oculocutaneous albinism, for example, there is a complete absence of melanin production, the clinical picture being more intense, with completely white skin and hair and severe eye changes. On the other hand, in type II oculocutaneous albinism, the most frequent form in Brazil, melanin deficiency is partial, therefore, skin and hair present some degree of pigmentation.
Treatments for Albinism: Albinism is a genetic disorder for which no cure or prevention techniques are known, because a formula to compensate for the lack of melanin in the body has not yet been discovered. However, there are some measures that help prevent serious complications from the disease , such as skin cancer and blindness. Well cared for, albinos can lead a practically normal life.
Follow-up by an ophthalmologist, started early, is essential to detect signs of abnormalities and improve vision. There are several therapeutic resources: use of glasses or contact lenses, tampons to correct strabismus, sunglasses with UHV protection to control photophobia and to protect the retina from ultraviolet rays. There are special lenses that darken as the brightness increases. These can be very useful in the daily lives of albinos.
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At least once a year, people with albinism should undergo an evaluation by a dermatologist, but skin care needs to be permanent. It is essential to avoid sun exposure especially between 10 am and 4 pm, use sunscreen (minimum SPF 30) that must be reapplied several times a day even on cloudy days.