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Albinism

Albinism

Alternate Names

  • albino

Definition

Albinism refers to a group of disorders that are present at birth. It is characterized by a decrease or lack of color in the skin, hair, and eyes.

What is going on in the body?

Albinism refers to a group of genetic defects that cause decreased levels of the pigment, melanin, which forms color in skin, hair, and eyes. Low levels of melanin cause very light skin tone and blond-white hair. The eyes might also be affected and have an iris that is dull-gray to blue or brown. Since melanin protects the skin from ultraviolet radiation from the sun, people with albinism are easily sunburned.

Risks

What are the causes and risks of the disease?

Albinism is an inherited disorder that occurs in at least four different types. Most of them are inherited in the autosomal recessive manner, which means that a person with the condition has received one abnormal gene from each of his or her parents. The parents of most children with albinism have one normal and one abnormal gene each, and thus have normal melanin production and no symptoms of albinism themselves.

Prevention

What can be done to prevent the disease?

Albinism is an inherited disease and cannot be prevented.

Diagnosed

How is the disease diagnosed?

Albinism is diagnosed using a medical history and complete physical that includes an eye examination.

Long Term Effects

What are the long-term effects of the disease?

People with albinism have a much higher risk of skin cancer because they lack a protective pigment in the skin.

Other Risks

What are the risks to others?

Albinism is not contagious and poses no risk to others. Because it is inherited, it can be passed from parents to their children at conception.

Treatments

What are the treatments for the disease?

There is no treatment per se for albinism. People with albinism are advised to avoid excess sun exposure in order to minimize their risk of skin cancer. Large-print books, high-contrast materials, and computers with large letters can help people with visual impairments.

Side Effects

What are the side effects of the treatments?

Rarely, a person may have an allergic reaction to a certain sunscreen lotion.

After Treatment

What happens after treatment for the disease?

Albinism is a lifelong condition that cannot be cured.

Monitor

How is the disease monitored?

Careful skin examination performed by a healthcare professional should be done periodically to check for skin cancer. Any new or worsening symptoms should be reported to the healthcare professional.

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