Skin Conditions

Albinism

Albinism is an inherited skin disorder that causes pale-colored skin, hair, and eyes.

Albinism results from the body producing little or none of the brown pigment called melanin. People with darker skin produce more melanin than those with lighter skin.

People with albinism are especially sensitive to the ultraviolet rays of the sun. As a result they are much more likely to experience sunburn and are at increased risk of developing skin cancer.

• Skin Color. The lack of melanin causes the skin to be very pale or light-colored. For some people with albinism, the color of the skin does not change over time. For others, melanin production may increase during adolescence and result in some skin darkening. Following sun exposure, some people with albinism may tan, or develop moles, lentigines, or freckles.
• Hair Color. The hair color of someone with albinism can range from very pale white to brown. People of African or Asian descent who have albinism may have hair that is yellow, reddish or brown-colored.
• Eye color. Eye color can range from very light blue to brown and may change with age.

Visual Problems
Melanin also plays a role in the function of the eyes, so the lack of melanin can result in visual problems in people with albinism.

Signs and symptoms of albinism related to eye function include:

• Rapid, involuntary back-and-forth movement of the eyes called “nystagmus”.
• Inability of to focus both eyes on the same point called “strabismus” or cross-eyed.
• Extreme nearsightedness or farsightedness
• Sensitivity to light, called “photophobia”
• Astigmatism

Genetics of Albinism
Albinism is due to a mutation in one of several genes that control the body’s production of melanin. These genes are an inherited, even if both parents have normally pigmented skin.

Most types of albinism are “recessive” traits, meaning that a person must inherit one copy of the gene from both parents in order to have albinism. If a person has only one copy of the gene, he or she will not have albinism. Parents within one copy of the gene for albinism will have normally pigmented skin, but may pass along the trait to their children.

Types of Albinism
Types of albinism include:

Oculocutaneous Albinism. Oculocutaneous albinism is caused by a mutation in one of four genes.

• Oculocutaneous Albinism Type 1 is caused by changes on chromosome 11. Most people with this type of albinism have milky white skin, white hair and blue eyes at birth. Some people with this type of albinism may experience some mild darkening of the skin, eyes and hair during adolescence.
• Oculocutaneous Albinism type 2 is caused by changes on chromosome 15. The type of albinism is more common in Sub-Saharan Africans, African-Americans and Native Americans. The hair may be yellow, auburn, ginger or red, the eyes can be blue-gray or tan.
• Oculocutaneous Albinism Type 3 is a less common type of albinism that is caused by changes on chromosome 9 and has been primarily identified in black South Africans. People with this disorder usually have reddish-brown skin, ginger or reddish hair, and hazel or brown eyes.
• Oculocutaneous Albinism Type 4 is caused by changes on chromosome 5. It is one of the most common forms of albinism among people of East Asian descent.

X-linked Ocular Albinism. This form of albinism is caused by changes on the X chromosome and usually occurs in males. (Males have the X+Y chromosomes. Females have the X + X chromosomes.). People with X-linked ocular albinism may have the same skin, eye and hair color that appears normal or slightly light than others in their family, but they face the same visual impairments.

Treatment and Management of Albinism
There is no cure for albinism, but there are important steps to follow to help minimize complications and maintain good health.

• Prescription Glasses. Most people with albinism will require prescription lenses to help adjust for visual changes.
• Eye Surgery. Surgery may be an option for some people with nystagmus. Surgery to correct strabismus may make the condition less noticeable, but it does not improve vision.
• Annual Eye Exams. Annual eye exams by an ophthalmologist are important to monitor changes to the eyes.
• Skin Cancer Checks. Regular skin cancer examinations are an important component of care. Individuals may also be advised to practice monthly skin self-exams.
• Avoid Sun Exposure. All possible measures should be taken to practice sun protection to minimize exposure to ultraviolet radiation that can harm the skin. This includes wearing a wide-brimmed hat, long-sleeved shirts and pants and using sunglasses with UV-protection.
• Sunscreen. It is very important that people with albinism regularly use sunscreens with a sun protection factor (SPF) of at least 30 to protect themselves against both UVA and UVB light.
• Visual Aids. People may choose to use a hand-held magnifying glass or a monocular that attaches to glasses to enhance their ability to read text.

Social and Emotional Factors
The different appearance of people with albinism can attract the attention of others. This attention, even if merely out of curiosity, can have a negative impact.

• Children with albinism may experience teasing or questions regarding their appearance.
• The term “albino” may be used and considered offensive as an impersonal label.
• People with albinism usually look different from members of their own families or others in their community and may feel like outsiders or be treated like outsiders.

These factors may contribute to social isolation and stress that may benefit for social support or counseling.