Albinism
Definition
Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes.
Alternative Names
Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome
Causes
Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural substance that gives color to your hair, skin, and iris of the eye.
The defects may be passed down through families.
There are two main types of albinism:
- Type 1 albinism is caused by defects that affect production of the pigment, melanin.
- Type 2 albinism is due to a defect in the "P" gene. People with this type have slight coloring at birth.
The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color, as well as vision problems.
Another type of albism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye colors are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina).
Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.
Other complex diseases may lead to loss of coloring in only a certain area (localized albinism). These conditions include:
- Chediak-Higashi syndrome (lack of coloring all over the skin, but not complete)
- Tuberous sclerosis (small areas without skin coloring )
- Waardenburg syndrome (often a lock of hair that grows on the forehead, or no coloring in one or both irises)
Symptoms
A person with albinism will have one of the following symptoms:
- Absence of coloring from the hair, skin, or iris of the eye
- Lighter than normal skin and hair
- Patchy, missing skin color
Many forms of albinism are associated with the following symptoms:
- Crossed eyes (strabismus)
- Light sensitivity (photophobia)
- Rapid eye movements (nystagmus)
- Vision problems, even functional blindness
Exams and Tests
Genetic testing offers the most accurate way to diagnose albinism and its type. Such testing is helpful if you have a family history of albinism, and is also useful for certain populations known to get the disease.
Your doctor may also diagnose the condition based on the appearance of your skin, hair, and eyes. An ophthalmologist should perform a electroretinogram test, which can reveal vision problems related to albinism.
Treatment
The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder.
Treatment involves protecting the skin and eyes from the sun:
- Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
- Sunscreen should have a high sun protection factor (SPF).
- Sunglasses (UV protected) may relieve light sensitivity.
Support Groups
National Organization for Albinism and Hypopigmentation -- www.albinism.org
International Albinism Center -- www.med.umn.edu/ophthalmology/centers/albinism/home.html
Hermansky-Pudlak Syndrome Network -- www.hpsnetwork.org
Outlook (Prognosis)
Albinism does not usually affect lifespan. Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or bleeding problems.
People with albinism may be limited in their activities because they can't tolerate the sun.
Possible Complications
- Decreased vision, blindness
- Skin cancer
When to Contact a Medical Professional
Call your health care provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also call if you notice any skin changes that might be an early sign of skin cancer.
Prevention
Because albinism is inherited, genetic counseling is important. Genetic counseling should be considered for people with a family history of albinism or hypopigmentation.
Reviewed By: A.D.A.M. Editorial Team: David Zieve, MD, MHA, Greg Juhn, MTPW, David R. Eltz. Previously reviewed by Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (2/25/2008).
