Albinism (from the Latin word "albus", meaning white) is a congenital condition where the skin, hair, and eyes lack the pigment melanin.
Individuals with albinism lack the protective effect of melanin, making them at significantly higher risk for sun damage and sun-related diseases, including skin cancer. Skin conditions often develop before the age of 30. Albinism occurs equally among men and women and is found in all ethnicities.
In albinism, the skin, hair, and eyes have a different colour/pigmentation than normal. The visibility of these differences depends on the expected pigmentation of the individual based on factors such as parents and ethnicity. It may be less apparent among individuals with light skin compared to those with dark skin.
People with albinism are often near-sighted and may have nystagmus (rapid, repetitive eye movements). This is due to abnormalities in eye development. Because the eyes (specifically the iris) lack pigmentation, they are highly sensitive to light.
There are different types of albinism depending on the specific genetic defect. Some genetic defects result in a total lack of pigment, while others cause varying degrees of reduced pigment production. There is also a form that only affects the eyes, known as ocular albinism.
The condition is caused by a defect in the conversion of the amino acid tyrosine into the pigment melanin (known as tyrosinase deficiency) or other enzyme defects.
Most forms of albinism are inherited in an autosomal recessive manner. This means that individuals with albinism have inherited a disease-causing gene from both parents. Those who have inherited only one disease-causing gene are carriers and do not show signs of albinism (they are considered healthy carriers). In other words, a single functional gene is sufficient for normal melanin production.
There is no cure for albinism. However, it is crucial to practice proper sun protection, including avoiding sun exposure and using UV-protective clothing. Regular follow-up with both a dermatologist and an ophthalmologist is important.
Vitiligo is a condition characterized by well-defined, milky-white patches on the skin or mucous membranes. This condition is caused by the loss of pigment cells, but it does not involve a congenital genetic defect that affects pigment production itself. Therefore, vitiligo is not the same as albinism.
