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Albinism

Overview

This is an inherited defect of melanin production that results in partial or full absence of pigment from the skin, hair, and eyes. Complete albinism involves a total absence of pigment from the hair, eyes, and skin, also called tyrosinase-negative oculocutaneous albinism – it is the most severe form of the condition. People suffering from this have white hair, colourless skin, red irises and vision defects. They also have photophobia, i.e, sunlight is painful to their eyes, they sunburn easily and do not tan. Albinism of just the eyes may be associated with several inheritable disorders. Piebaldism, or partial albinism is a disorder associated with a patchy absence of pigment, often occuring as a white forelock of hair or as depigmented spots on the forehead, elbows, knees, or other body areas. Other complex diseases may be associated with partial or varying degrees of loss of pigment in only a specific area, called localized albinism. Some of these diseases are Waardenberg syndrome (often a white lock of hair grows on the forehead, or absence of pigment in one or both irises), Chediak-Higashi syndrome (diffused incomplete depigmentation of skin), Tuberous sclerosis (white leaf macule, small localized areas of depigmentation), and Hermansky-Pudlak syndrome, generalized albinism.


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Causes

An amino acid called tyrosine is normally converted by the body to the pigment melanin. Albinism results when the body is unable to produce melanin because of one of several possible defects in the metabolism of tyrosine. The disease may be inherited by any of the following means - autosomal recessive, autosomal dominant or X-linked.


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Signs & Symptoms

The most evident indication is the absence of pigment from the hair, skin or iris of eyes, or patchy absence of pigment. Most forms of complete albinism have some of the following symptoms - red reflex in the eye (as might be seen in flash pictures of unaffected people), rapid eye movements (nystagmus), photophobia (avoidance of light because of discomfort), decreased visual acuity and functional blindness.

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Prevention

Since this is an inherited condition genetic counseling may be of value to individuals with a family history of albinism or piebaldism.


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Treatments
Skin Protection Naturopathy

Depending on the severity of the disease, treatment is given to ease symptoms. The skin and eyes needs to be protected from the sun – UV protected sunglasses may relieve photophobia. Sunburn risk can be reduced by the use of sunscreens with a high SPF(sun protection factor) and completely covering with clothes when exposed to sun.

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