Dermatology

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Albinism

Summary:

Albinism is an inherited genetic disorder that reduces the amount of melanin produced in the skin, either partly or completely.
Its initial symptoms are apparent on the skin, hair, and eye color. People with albinism also tend to have vision problems.
They are also more susceptible to sunburn and skin cancer.
Although there's no cure for albinism, people with the disorder can take a few steps to protect their skin and eyes and maximize their vision.
It’s important to see a genetic counselor to discuss your personal genetic condition.

Overview:

It is a rare, non-contagious congenital genetic disorder. It also lasts for life and does not get worse over time. People with albinism often look pale. Moreover, there are many types of albinism, and it affects people differently.

Other Names: Achromia, achromasia, achromatosis

Types of albinism:

The types are mainly dependent on the causative gene. They include:

Oculocutaneous albinism (OCA) [most common type]: It affects the eyes, hair and skin, and is divided into 4 types.
Ocular albinism: This type of albinism only affects the eyes, causing vision problems.
Albinism accompanying rare disorders (e.g. Hermansky-Pudlak and Chediak-Higashi syndromes)

Causes:

Albinism is caused by a gene mutation, which causes melanin (a natural substance in the body that gives color to the skin, hair, and irises) to be absent or exist in small quantities in the body.

Risk factors:

Because the disease is hereditary, the risk of albinism can be higher for the following groups:

Children of parents with albinism
Children who have relatives with albinism.
Children of parents who carry the causative gene but do not have albinism.

Symptoms:

Signs usually appear on skin, hair, and eye color. People with albinism all have vision problems.
The most recognizable form of albinism results in a hair color anywhere between white and brown, including yellow and red (the exact color depends on the amount of melanin the body produces).
Pink skin. In some people, the skin color may not change.
Pale blue, gray or brown eyes depending on the type of albinism and the amount of melanin in the body. Colors may change with age.
Nystagmus (involuntary rapid eye movements)
strabismus (crossed eyes)
Severe nearsightedness, farsightedness, or blurred vision
Photophobia (sensitivity to light)

When to see a doctor?

If you notice that your baby has a loss of hair color (including eyelashes and eyebrows) or skin at birth
If you notice nystagmus (involuntary rapid eye movements) in some babies
Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections.
Any skin changes may be an early sign of skin cancer.

Complications

Sunburns
Skin cancer
Blindness
Emotional and social challenges

Diagnosis

Clinical examination
Eye examinations
Electroretinogram tests

Treatment:

Because albinism is a chronic disease, treatment is very limited. Most people with albinism do not have health problems. However, there are precautions aimed at alleviating its symptoms, depending on their severity. They include:

Avoiding sun exposure and protecting eyes and skin from its effects.
Wearing corrective eyeglasses.
Undergoing surgery on optical muscles to minimize nystagmus.

Prevention:

Because albinism is a genetic disorder, genetic counseling is important. People with a family history of the disease should turn to a genetic counselor for support and discuss their genetic conditions.

Guidelines for people with albinism

Make sure you undergo an annual eye examination.
Have an annual skin assessment performed on both children and adults.
Reduce the chances of sunburns by avoiding sun exposure.
Wear protective clothing including long-sleeved shirts, long pants and wide-brimmed hats.
Use sunscreens with SPF.
Protects your eyes by wearing shades.

FAQs:

Do people with albinism have decreased immunity and are more prone to frequent infections?

Most people with albinism have good health.

What is the difference between albinism and vitiligo?

The difference is shown in the table below:

Albinism	Vitiligo
A genetic disorder you are born with.	An acquired autoimmune disorder that appears after birth.
Stable. Doesn't spread or improve.	Can improve or worsen with treatment.
Has 2 types: - A type that affects all areas with melanin in the body, including the eyes, retina, skin and hair. - A type that only affects the eyes.	It starts out as an incomplete disorder. It can also take various forms.
It results from a biochemical defect in melanin production.	It results from the autoimmune destruction of the melanin-producing cells.