What is albinism? Why does the skin and hair turn pale?

Have you ever noticed that some people have very pale skin and hair, sometimes even white? Even their eyes are light blue or brown. In society, we sometimes call these people by different names. But this is medically known as a condition called albinism. Many people think that this is a disease. But in reality, it is not a disease, and it is not contagious. So, should we be aware of this today?

What exactly is Albinism?

Simply put, albinism is a genetic condition caused by a decrease or complete loss of the pigment melanin in our body.

Think of melanin as a natural "ink" in our bodies. This ink is what gives color to our skin, hair, and eyes . Someone with more melanin has darker skin, hair, and eyes. Someone with less melanin has lighter skin. So, someone with albinism has very little melanin production in their body. That's why their skin and hair are so pale.

This pigment, called melanin, has another important function in addition to providing color. That is, it helps the optic nerve in our eyes develop properly. Therefore, many people with albinism may experience some degree of vision impairment.

Is it correct to call someone 'albino'?

You may have heard people with this condition called "albino." But as doctors, we and many people with the condition prefer to be called "a person with albinism." That's because it's not appropriate to refer to someone by their medical condition. Just like calling someone with diabetes "a diabetic" rather than "a diabetic" gives that person respect.

Are there main types of albinism?

Yes, there are two main types of albinism. Also, albinism can occur as part of some rare genetic syndromes. Let's look at these separately.

Albinism associated with other medical conditions

Very rarely, albinism can occur as a feature of other complex genetic syndromes, meaning that in addition to albinism, they also have symptoms that affect other body systems.

• Hermansky-Pudlak syndrome (HPS): In addition to albinism, this condition can also cause blood clotting problems, lung, kidney, or intestinal problems .
• Chediak-Higashi syndrome (CHS): In this condition, albinism weakens the body's immune system , making it prone to frequent infections .

What are the main symptoms?

The condition of albinism mainly affects the appearance of the skin, hair, and eyes, as well as vision.

Skin

People with albinism often have very pale skin, but this depends on the type of albinism they have and the amount of melanin their body produces.

• OCA type 1: The skin is very pale, almost white.
• OCA types 2 and 4: May have creamy white skin.
• OCA type 3: The skin may take on a reddish-brown color.

Hair

Hair color also varies depending on the type of albinism. Some people's hair is completely white. Others may have light yellow, golden, light brown, or red hair. It all depends on the amount of melanin in the body.

Eyes

Eye color can be light blue, hazel, or brown. However, albinism directly affects not only eye color, but also vision.

• Blurred vision: Seeing things in a blurry, unclear way.
• Refractive Errors : Conditions that require glasses, such as nearsightedness or farsightedness.
• Strabismus: Difficulty keeping both eyes looking in the same direction.
• Nystagmus: Rapid, uncontrollable eye movements .
• Photophobia: Eyes that become too blue to see in sunlight or bright light.
• Reduced depth perception: Inability to accurately judge the distance to objects.

Why does this happen? Is this something that is inherited?

Yes, albinism is a completely genetic condition. This means that it is inherited from parents to children.

There are several genes in our body that are related to melanin production. Variations in these genes can impair melanin production.

• Oculocutaneous albinism (OCA) is inherited in an autosomal recessive pattern. Simply put, for a child to have the condition, they must inherit the gene for the condition from both their mother and father . If only one parent inherits the gene, the child will not develop symptoms. But they will be a "carrier" of the gene. This means that if they mate with another carrier in the future, there is a 25% chance that their child will have albinism.

• Ocular albinism (OA) is usually inherited in an 'X-linked' pattern. Because it is passed on through the X chromosome, it is most often seen in males.

How is it diagnosed and what are the treatments?

Identification

A doctor usually diagnoses this condition by:

• On physical examination:Light skin, hair, and eye color can be detected at birth or shortly thereafter.
• A complete eye exam: Checking for eye-related symptoms (such as nystagmus and strabismus).
• DNA testing: In some cases, genetic testing can be done to confirm the specific type of albinism.

Treatment and management

Since this is a genetic condition, there is no treatment that can completely cure this condition by increasing the body's production of melanin. However, the problems associated with this condition can be managed well and you can live a healthy, normal life.

There are two main areas to focus on.

1. Skin care (very important!)

• Sun protection: Avoid exposure to the sun as much as possible, especially between 11 a.m. and 3 p.m.
• Sunscreen: Always use a sunscreen with an SPF of 30 or higher that protects against both UVA and UVB rays when you go outside . Ask your doctor for more information about this.
• Protective clothing: Make it a habit to wear long-sleeved clothing, hats, and sunglasses with UV protection.
• Regular skin check: Check your skin regularly for new spots, warts, or changes in color, size, or shape. See a doctor immediately if you notice even the slightest change.

2. Eye protection

• Visiting an ophthalmologist: It is essential for everyone with albinism to see an ophthalmologist regularly.
• Eyeglasses: Wearing appropriate glasses or contact lenses to correct refractive errors.
• Aids for vision impairment: Devices such as magnifying lenses can be used to improve vision.
• Surgery: Sometimes surgery can be performed to correct strabismus.

If your child has albinism...

It's normal for parents to feel sad and scared when they learn that their child has albinism. But with the right support and awareness, you can give your child a better life.

• Inform the school: Talk to your child's teachers and explain their condition, especially their vision impairment. Ask for help with things like seating them at the front of the class and providing them with books with large print.
• Give your child self-confidence: Because your child looks different from others, they may be teased and bullied at school and in society. Therefore, talk to your child about this openly from an early age. Instill confidence in them that they can tell you what is on their mind.
• Make sunscreen use a habit:Make it a habit for the whole family to apply sunscreen every day. Then it won't feel like it's just something for the child.
• See your doctor regularly: Be sure to take your child for regular medical checkups regarding skin and eyes.

Living with albinism can be challenging. But remember, it does not limit a person's abilities, intelligence, or ability to succeed in life. With the right management and support, they can live a successful, happy life just like anyone else.