Albino (albinism): symptoms, causes, to drugs • hello healthy

Definition

What is albino (albinism)?

Albinism or albinism is a genetic disorder characterized by a complete or partial reduction in the production of melanin (the pigment that gives color to skin, hair and eyes).

As a result, people with albinism or what are often called albinos have hair, skin, and eyes that are light or colorless.

People with this condition are at risk of being isolated because of the condition. Social stigmatization can occur, especially within communities of color, where the race of people with albinism can be questioned.

There is no cure for albinism, but people with albinism can take steps to protect their skin and maximize their visibility.

How common is this condition?

Albinism is relatively common. This condition arises, no matter what race and ethnicity in the world.

About one in 18,000 to 20,000 people in the United States has the condition. Meanwhile in other parts of the world, one in 3,000 people could be affected.

Most children with albinism are born to parents with normal hair and eye color, according to their ethnicity.

This condition can occur in patients of any age. Albinism can be treated by reducing risk factors. Talk to your doctor for more information.

Symptoms

What are the signs and symptoms of albinism (albino)?

Reporting from the Mayo Clinic, common symptoms of albinism or albino are:

Skin

Due to pigment problems, people with albinism have skin colors that range from white to brown, and may look different from parents or siblings who don't have albinism.

• Freckles
• Moles, with or without pigment - moles without pigment are usually pink in color
• Large patches that are like freckles (lentigo)
• Skin does not darken.

Some children born with this condition initiate or accelerate melanin production when they grow into adolescents. So, their skin may darken a little.

The skin of people with this condition burns more easily when exposed to the sun, making them more likely to develop skin cancer. This may have happened when they were teenagers.

Hair

Due to pigment problems, people with albinism can have hair, eyelash, and eyebrow colors that range from white to brown. Hair color can darken in early adulthood.

Eye

Due to pigment problems, people with albinism can have eye colors ranging from very light blue to brown, and they can change with age.

Melanin is very important in nerve growth which allows you to focus on images such as words and faces. Even with glasses or contact lenses, these problems cannot be resolved.

Symptoms in the eyes of people with albinos may not be visible. So, problems with your eyes and vision can be an early clue about the condition.

With regard to eye function, albino signs and symptoms are:

• Rapid eye movement, back and forth (nystagmus)
• Both eyes cannot look at the same point or move together (strabismus / squint)
• Extreme minus or plus
• Sensitivity to light (photophobia)
• Abnormal curvature on the front side of the eye or the lens inside the eye (astigmatism), which causes blurred vision
• Abnormal retina development causes reduced vision
• Nerve signals from the retina to the brain that do not follow normal neural pathways
• Partially blind (vision less than 20/200) or totally blind.

Your vision tends to get worse the less color your eyes have. On the other hand, your vision will stabilize over time and you will see colors normally.

There may be signs and symptoms not listed above. If you have concerns about a particular symptom, consult your doctor.

When should I see a doctor?

When your child is born, if the doctor finds a lack of pigment in the hair or skin that affects the eyelashes or eyebrows, the doctor may order an eye exam. The doctor will also monitor changes in your child's pigmentation and vision.

If you notice signs and symptoms of albino in your baby, contact your doctor immediately.

Call the doctor if your child has symptoms of albinism, as well as frequent nosebleeds, easy bruising, or chronic infections. These symptoms can indicate the presence of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome, which are rare, but quite serious, disorders that include albinos.

Cause

What causes albino (albinism)?

Several genes provide instructions for making one of several proteins involved in melanin production. Melanin is produced by cells called melanocytes, which are found in your skin, hair and eyes.

Albinos are caused by mutations in one of these genes. Various types of albinism can occur, mainly based on the mutation in the gene that causes the disorder. The mutation can result in reduced or no melanin.

What are the types of albinism (albinism)?

Quoted from the National Organization for Albinism and Hypopigmentation, the types of albinos are classified based on how they are inherited and on which genes are affected. The types of albinos are:

Oculocutaneous Albinism (OCA)

OCA affects the skin, hair and eyes. This type is the most common, meaning that a person inherits two copies of the mutated gene - one from each parent. It is the result of a mutation in one of the seven genes labeled 0CA1 through 0CA7. Based on that, the types of albino are:

• OCA1

This condition is also called tyrosinase-related albinism. This is caused by a lack of the enzyme tyrosinase that makes people have white hair, pale skin, and light eyes (subtype OCA1A), or light skin color, hair, and eyes (subtype OCA1B).

• OCA2

This condition is also called P gene albinism. It is caused by a lack of the OCA2 gene which causes reduced melanin production. People with OCA2 have light-colored eyes and skin, yellow, blonde or light brown hair.

• OCA3

This condition is rarely described and is the result of a genetic defect in TYRP1, a protein linked to tyrosinase. This makes people with OCA 3 have reddish brown skin, red hair, hazel or brown eyes.

• OCA4

This condition is a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme function. This results in the appearance of symptoms similar to those of OCA2.

• OCA5-7

This condition was discovered in humans in 2012 and 2013. There are reports that there are mutations in three additional causative genes. This type is considered uncommon.

Ocular Albinism (OA)

is caused by a gene mutation on the X chromosome and occurs almost only in males. People with OA can have normal hair, skin, and eye color, but have no color on the retina.

Another rare syndrome

Apart from the types above, there are several

• Hermansky-Pudlak Syndrome (HPS)

Hermansky-Pudlak Syndrome (HPS) is caused by a deficiency of 1 in 8 genes, causing OCA-like symptoms, occurring in lung, intestinal, and bleeding disorders.

• Chediak-Higashi Syndrome

This condition is caused by a lack of the LYST gene, causing OCA-like symptoms. People with Chediak-Higashi Syndrome can have brown or blonde hair, cream-to-gray skin, and defects in white blood cells.

• Griscelli Syndrome (GS)

Griscelli Syndrome (GS) is caused by a lack of 1 in 3 genes. GS occurs with albinism, immune problems and neurological problems. GS usually results in death within the first decade of life.

What increases my risk for albinism?

Albino is a genetic condition. If someone in your family has albinism, you have a higher risk of this condition.

Complications

What complications can occur with an albino condition (albinism)?

This condition can cause complications on the skin and eyes, social and emotional. Here are the complications for albinos:

• Eye complications

Vision problems can affect learning, work, and driving skills.

• Skin complications

People with albinos have skin that is very sensitive to light and sun exposure. Sunburn is a serious complication associated with this condition as it can lead to other problems, such as skin cancer.

In the tropics, people with albinos who do not have access to adequate skin protection tend to have a higher risk of developing skin cancer. If they use sunscreen of at least SPF 20 and wear protective clothing, they can still do outdoor activities.

• Social and emotional challenges

People with this condition may experience discrimination. Reactions from other people may have an adverse effect on the sufferer.

People with this condition usually look different from family members or ethnicity, so they tend to feel like strangers.

Diagnosis

How to diagnose this condition?

Genetic testing is the most accurate test for diagnosing albinism. Such testing is useful if you have a family history of albinism. It is also useful for certain groups of people who are known to have this condition.

In addition, the check-up steps for albinos are:

• Physical examination of the skin, hair and eyes
• Description of changes to pigmentation
• A thorough examination of the eye to evaluate the potential situation of nystagmus, strabismus, and photophobia and to count the brain waves generated when light or an inverted pattern is shown in each eye
• Comparison of the pigmentation of your child to that of family members.

Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

How to treat albino (albinism)?

There is no treatment for albinism. Treatment of this condition is usually only to relieve symptoms and prevent sun damage. The treatment of albinos is:

• Avoid high-risk sun exposure by wearing sunglasses, protective clothing, applying sunscreen with at least SPF 30 to protect skin from UV rays
• Fix vision problems by using the right glasses
• Correct abnormal eye movements with surgery.

What are the lifestyle and self-medication that can be done in conditions of albinism?

Lifestyle and home remedies that can help you live with albinos are:

• Using glasses to protect the eyes from UV rays
• Protective clothing to protect skin from UV rays
• Use sunscreen with a minimum of SPF 30

The condition of albinism is often very visible. It may make you feel isolated or shunned. Talking to a mental health counselor or other person with the same condition may help.

If you have any questions, consult your doctor for the best solution to your problem.