Type of disease: Rare conditions
Albinism is a group of disorders that affects pigment of the skin, eyes, and hair. All types of albinism are genetic but are caused by changes (mutations) in different genes. Melanin is the substance that gives color to the skin, hair, and eyes. Due to a genetic change, people with albinism have either little or no melanin; however, melanin production may increase with age. Because of the lack of melanin, people with albinism are very sensitive to the sun and have an increased risk of skin cancer. Being affected by albinism can be emotionally and socially difficult in many cultures. Many feel isolated and alone, because they look different.
Common symptoms of albinism are white hair, pinkish skin, and red looking eyes. However, skin coloration may vary from white to brown and may be fairly similar to the skin color of the other family members. Some people with albinism may even have freckles or get a slight tan. Albinism can be connected to certain eye problems like astigmatism where the eye is shaped slightly abnormally, nystagmus where the eyes move back and forth involuntarily, and severe near or farsightedness.
Albinism is usually diagnosed shortly after birth due to physical appearance. Your baby’s doctor may pay special attention to an examination of the eyes and they may compare the skin color of your baby to other family members. There is no cure for albinism, but treatment and management will include protection of eyes and skin and careful monitoring of the skin for signs of skin cancer. Research is ongoing, so talk to your baby’s (child’s) doctor about the most current treatment options. Talk to a genetic counselor to learn more about your baby’s specific type of albinism, available genetic testing, and to understand the risk of passing albinism onto future pregnancies. Support groups are a good source of information and can help connect you with others affected by albinism.