Sunday, 29 September 2019

Albinism causes

vitiligo. The condition doesn’t appear to be inherited. Most people with vitiligo don’t have a family history of the disorder. But family history of vitiligo or other autoimmune conditions may increase your risk even though it doesn’t cause vitiligo.Another risk factor may be having genes associated with vitiligo, including NLRP1 and PTPN22
Most researchers believe that vitiligo is an autoimmune disorder because your body is attacking your own cells. But it’s also unclear how your body attacks your pigment cells. What is known is that about 20 percentTrusted Source of people with vitiligo also have one other autoimmune disorder. Depending on the population, these disorders can include the following, from most common to least common:
scleroderma, a disorder of the connective tissue of the body
lupus
thyroiditis, caused by an improperly functioning thyroid
psoriasis
alopecia areata, or baldness
type 1 diabetes
pernicious anemia, an inability to absorb vitamin B-12
Addison’s disease
rheumatoid arthritis
Some experts also report vitiligo appearing after incidents of:
severe sunburns or cuts
exposure to toxins and chemicals
high levels of stress
The good news is that many times vitiligo has few physical side effects on the body. The most serious complications may affect the ears and eyes, but these aren’t common. The primary physical effect is that the loss of pigment that increases your risk for sunburn. You can protect your skin by applying sunscreen with a SPF of 30 and wearing sun protective clothing.
As understandable the genetic defect result in the complete absence of melanin production, or a reduced amount of melanin production. Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. Albinism is also associated with vision problems.. Albinism is an inherited disorder that’s present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism. A defect in one of several genes that produce or distribute melanin causes albinism.
 Types of albinism include: People with albinism will have the following symptoms: an absence of color in the hair, skin, or eyes, lighter than normal coloring of the hair, skin, or eyes, patches of skin that have an absence of color, Albinism occurs with vision problems, which may include: strabismus (crossed eyes),photophobia (sensitivity to light),nystagmus (involuntary rapid eye movements),,impaired vision or blindness, astigmatism. IN cases of  Oculocutaneous albinism (OCA):-It affects the skin, hair, and eyes. There are several subtypes of OCA: Ocular albinism is the result of a gene mutation on the X chromosome and occurs almost exclusively in males. This type of albinism only affects the eyes. People with this type have normal hair, skin, and eye coloring, but have no coloring in the retina (the back of the eye). OCA1:-OCA1 is due to a defect in the tyrosinase enzyme There’s no cure for albinism. However, treatment can relieve symptoms and prevent sun damage. Treatment may include:
sunglasses to protect the eyes from the sun’s ultraviolet (UV) rays
protective clothing and sunscreen to protect the skin from UV rays
prescription eyeglasses to correct vision problems
surgery on the muscles of the eyes to correct abnormal eye movements esearch on vitiligo has increased in the past years. Newer technology allows for advances in genetic research so that we can understand how vitiligo works. Understanding how vitiligo is triggered and how its process interacts with other organ systems can help researchers develop new treatments.
Other studies on vitiligo include looking into how trauma or stress triggers vitiligo, how genetics affect vitiligo, and how the chemical signals of the immune system play a role.



. There are two subtypes of OCA1:OCA1a. People with OCA1a have a complete absence of melanin. This is the pigment that gives skin, eyes, and hair their coloring. People with this subtype have white hair, very pale skin, and light eyes.
OCA1b. People with OCA1b produce some melanin. They have light-colored skin, hair, and eyes. Their coloring may increase as they age.
OCA2:OCA2 is less severe than OCA1. It’s due to a defect in the OCA2 gene that results in reduced melanin production. People with OCA2 are born with light coloring and skin. Their hair may be yellow, blond, or light brown. OCA2 is most common in people of African descent and Native Americans.
OCA3
OCA3 is a defect in the TYRP1 gene. It usually affects people with dark skin, particularly black South Africans. People with OCA3 have reddish-brown skin, reddish hair, and hazel or brown eyes.
OCA4
OCA4 is due to a defect in the SLC45A2 protein. It results in a minimal production of melanin and commonly appears in people of East Asian descent. People with OCA4 have symptoms similar to those in people with OCA2.
Ocular albinism
Hermansky-Pudlak syndrome
This syndrome is a rare form of albinism that’s due to a defect in one of eight genes. It produces symptoms similar to OCA. The syndrome occurs with lung, bowel, and bleeding disorders.
Chediak-Higashi syndrome
Chediak-Higashi syndrome is another rare form of albinism that’s the result of a defect in the LYST gene. It produces symptoms similar to OCA, but may not affect all areas of the skin. Hair is usually brown or blond with a silvery sheen. The skin is usually creamy white to grayish. People with this syndrome have a defect in the white blood cells, increasing their risk of infections.
Griscelli syndrome
Griscelli syndrome is an extremely rare genetic disorder. It’s due to a defect in one of three genes. There only have been 60 known casesTrusted Source of this syndrome worldwide since 1978. It occurs with albinism (but may not affect the entire body), immune problems, and neurological problems. Griscelli syndrome usually results in death within the first decade of

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