Health

What is Albinism?

Albinism of genetic disorders that affect the skin, hair and eyes as a result of a lack of Almilanyen material, it may be due to genetic factors or as a result of burns caused by exposure to too much sunlight, stress , or, may cause leprosy disease , psychological problems and depression of the patient as a result of the spread of spots in different parts of The body.

What is Albinism?

Albinism is a genetic disease characterized by decreased production or complete absence of melanin, the pigment that gives skin, hair and eyes their color.Normally, people with albinism have lighter skin and hair color than others, in addition to experiencing some vision problems.The melanin pigment protects the skin from damage caused by ultraviolet rays, so people with albinism, and a deficiency in the levels of this pigment, are more sensitive to sunlight, which increases their risk of skin cancer .

Types of albinism.

Types of albinism are classified based on how they’re inherited and on the gene that is affected.

▪️ Oculocutaneous albinism (OCA), the most common type, means a person inherited two copies of a mutated gene — one from each parent (autosomal recessive inheritance). It’s the result of a mutation in one of seven genes, labeled from OCA1 to OCA7. OCA causes decreased pigment in the skin, hair and eyes, as well as vision problems. The amount of pigment varies by type, and the resulting color of skin, hair and eyes also varies by and within types.

▪️ Ocular albinism is mainly limited to the eyes, causing vision problems. The most common form is type 1, inherited by a gene mutation on the X chromosome. X-linked ocular albinism can be passed on by a mother who carries one mutated X gene to her son (X-linked recessive inheritance). Ocular albinism occurs almost exclusively in males and is much less common than OCA.

▪️ Albinism related to rare hereditary syndromes can occur. For example, Hermansky-Pudlak syndrome includes a form of OCA as well as bleeding and bruising problems and lung and bowel diseases. Chediak-Higashi syndrome includes a form of OCA as well as immune problems with recurrent infections, neurologic abnormalities and other serious issues.

Symptoms.

Signs and symptoms of albinism involve skin, hair, and eye color and vision.

1. Skin.

The most recognizable form of albinism results in white hair and very light-colored skin compared with siblings. Skin coloring (pigmentation) and hair color can range from white to brown, and may be nearly the same as that of parents or siblings without albinism.

With exposure to the sun, some people may develop:

▪️ Freckles.

▪️ Moles, with or without pigment — moles without pigment are generally pink-colored.

▪️ Large freckle-like spots (lentigines).

▪️ Sunburn and the inability to tan.

For some people with albinism, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and the teen years, resulting in slight changes in pigmentation.

2. Hair.

Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that’s yellow, reddish or brown. Hair color may also darken by early adulthood or stain from exposure to normal minerals in water and the environment, and appear darker with age.

3. Eye color.

Eyelashes and eyebrows are often pale. Eye color can range from very light blue to brown and may change with age.

The lack of pigment in the colored part of the eyes (irises) makes the irises somewhat translucent. This means that the irises can’t completely block light from entering the eye. Because of this, very light-colored eyes may appear red in some lighting.

4. Vision.

Vision impairment is a key feature of all types of albinism. Eye problems and issues may include:

▪️ Rapid, involuntary back-and-forth movement of the eyes (nystagmus).

▪️ Head movements, such as bobbing or tilting the head, to try to reduce the involuntary eye movements and see better.

▪️ Inability of both eyes to stay directed at the same point or to move in unison (strabismus).

▪️ Extreme nearsightedness or farsightedness.

▪️ Sensitivity to light (photophobia).

▪️ Abnormal curvature of the front surface of the eye or the lens inside the eye (astigmatism), which causes blurred vision.

▪️ Abnormal development of the retina, resulting in reduced vision.

▪️ Nerve signals from the retina to the brain that don’t follow the usual nerve pathways (misrouting of the optic nerve).

▪️ Poor depth perception.

▪️ Legal blindness (vision less than 20/200) or complete blindness.

Causes.

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

Albinism is caused by a mutation in one of these genes. Different types of albinism can occur, based mainly on which gene mutation caused the disorder. The mutation may result in no melanin at all or a significantly reduced amount of melanin.

Complications.

Albinism can include skin and eye complications as well as social and emotional challenges.

▪️ Eye complications. Problems with vision can impact learning, employment and the ability to drive.

▪️ Skin complications. People with albinism have skin that is very sensitive to light and sun exposure. Sunburn is one of the most serious complications associated with albinism because it can increase the risk of developing skin cancer and sun damage-related thickening of the skin.

Diagnosis.

Diagnosis of albinism is based on:

▪️ A physical exam that includes checking skin and hair pigmentation.

▪️ A thorough eye exam.

▪️ Comparison of your child’s pigmentation to that of other family members.

▪️ Review of your child’s medical history, including whether there has been bleeding that doesn’t stop, excessive bruising or unexpected infections. A medical doctor specializing in vision and eye disorders (ophthalmologist) should conduct your child’s eye exam. The exam includes an assessment of potential nystagmus, strabismus and photophobia. The doctor also uses a device to visually inspect the retina and determine if there are signs of abnormal development.

Genetic consultation can help determine the type of albinism and the inheritance.

Treatment.

Because albinism is a genetic disorder, it can’t be cured. Treatment focuses on getting proper eye care and monitoring skin for signs of abnormalities. Your care team may involve your primary care doctor and doctors specializing in eye care (ophthalmologist), skin care (dermatologist) and genetics.

Treatment generally includes:

▪️ Eye care.

This includes receiving an annual eye exam by an ophthalmologist and most likely wearing prescription corrective lenses. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable.

▪️ Skin care and prevention of skin cancer.

This includes receiving an annual skin assessment to screen for skin cancer or lesions that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink skin lesions.

Lifestyle and home remedies.

You can help your child learn self-care practices that should continue into adulthood:

▪️ Use low vision aids, such as a hand-held magnifying glass, a monocular or a magnifier that attaches to glasses, and a tablet synced to a smart board (an interactive electronic board with a touch screen) in the classroom.

▪️ Always use sunscreen with a sun protection factor (SPF) of 30 or greater that protects against both UVA and UVB light.

▪️ Strictly avoid high-risk or prolonged sun exposure, such as being outside for long periods of time or in the middle of the day, at high altitudes, and on sunny days with thin cloud cover.

▪️ Wear protective clothing, including clothes with color, such as long-sleeve, collared shirts, long pants and socks; broad-brimmed hats; and special UV-protection clothing.

▪️ Protect eyes wearing dark, UV-blocking sunglasses or transition lenses (photochromic lenses) that darken in bright light.

Reference :

Albinism/https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes

Albinism/https://www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment

معلومات هامة حول البرص: تعرف عليها/https://www.webteb.com

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