Thứ Hai, 13 tháng 1, 2014

Albinism

Albinism Albinism is an inherited disorder affecting the skin color and hair color. Melanin is a pigment responsible for coloration of hair, skin and eyes and albinism is characterized by abnormal defect in the production of melanin pigment. For the child who is affected with this disorder there will not be any pigment or very little production of melanin. Right from the childbirth the person will be highly sensitive to sunlight and have increased chances of getting skin cancer.


Melanin is also responsible for normal functions of optical nerves and hence people with albinism will also have vision problems.


Types :


Albinism is a congenital disorder meaning inherited by birth. Melanin is the substance that determines the color of your skin or hair and eyes. Hence it there is decreased quantity of melanin production and distribution; it will markedly affect the child. Albinism runs for families passing from one generation to another.


If there is defect in the production of melanin pigment it is called Type 1 albinism and if the problem is due to the “P” gene it is called Type 2 albinism. People with “P” gene defect will have mild skin color and hair color. But there are intense form of discoloration like oculocutaneous albinism wherein the individual will have completely white colored skin and hair added by problems in vision.


Ocular albinism is the type that cause defect only in the eyes and not on skin color and hair.


If there is defective gene it may cause Hermansky Pudlak syndrome which is another type of albinism featuring bleeding disorder and defective lungs and bowel movement.


There are some other types of albinism that affects only specific area and not the entire skin. Some examples of such albinism are tuberous sclerosis disorder and Chediak Higashi syndrome and Waardenburg syndrome.


Causes :


Chromosomes and genes are responsible for determining skin color and any mutation on the genes will strongly affect the normal skin color. When melanin is produced it involves the process of secretion of number of proteins like melanocytes and any defect or mutation in such cells will result in reduction in the quantity of melanin causing albinism.


Again the child that has inherited albinism will have two copies of mutated genes one from his father and the other from his mother. The child will not have this problem if one gene is defective and the other is normal.


Most of the children with albinism will have problems with vision. The nerve path leading to the eyes from the brain are impaired or defective causing severe eye problems. The range of vision problem can be mild to severe like presence of abnormal retina.


Symptoms :


This disease is characterized by the absence of color of skin, hair and even on the eyes. The individual with albinism will have lighter color than normal others. His/her skin color may have white patches. Many of them will have vision problems, sensitivity to light and crossed eyes. They may show rapid eye movements.


For some the skin may be milky white and for some it may have brown spots or white spots here and there. Again the symptoms will not be the same for some people since the color may change to normal skin if there is melanin production during adolescence. They may have marked moles with pigment, freckles and tanning of skin if they are exposed to sun.


The color of the hair may range from plain white to yellowish brown and there is every chance for the hair color to change with growth.


Complications :


People with albinism have increased chance of developing skin cancer. They are often subjected to embarrassment and can become emotionally weak which may eventually lead them to become socially isolated.


Diagnoses :


This disorder can be easily detected by mere physical examination of the skin and hair. In case of vision problems, you have to consult an ophthalmologist for thorough examination of eyes.


Pictures of Albinism :


Images, Pics, Pictures and Photos of Albinism


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Treatment :


Since albinism is a genetic disorder treatment is not effective and only helps in reducing the symptoms.


The person should avoid going out in sunlight and should liberally use sunscreen lotion and creams that contain SPF. Glasses or lenses can be used for rectifying vision problems and in case of rapid eye movements surgery is done for repairing the eye muscles.


People with albinism should visit the doctor at least once in a year for checking the changes of skin color and for examining their eyes.


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