Xeroderma pigmentation or xeroderma pigmentosa is a genetic disease which is a multisystem disorder. It makes the skin and tissue covering the eye sensitive to ultraviolet (UV) light from the sun. UV causes skin damage but usually the skin repairs this damage. In xeroderma pigmentation, this skin is not able to correct this damage due to a problem with mutated genes.
It manifests as a thin skin with patches of varying color. This skin disease eventually leads to spidery skin and skin cancer. So far eight types of inherited xeroderma pigmentation have been identified. That means there are eight types of genes that cause some form of xeroderma pigmentosa. Some types of skin are more prone to skin cancer while others are prone to neurological complications. It is a rare kind of genetic disease that manifests if the gene is present from the maternal and the paternal side.
Symptoms of xeroderma are sunburn that does not heal quickly, blistering after a slight sunburn, spider-like blood vessels, worsening patches of skin pigmentation, crusting and scaling of the skin, oozing raw skin, and acute discomfort when one is out in the sun. Symptoms in the eye may be clouding of the cornea, keratitis or inflammation of the cornea, lid tumors. In some people, after exposure to sun, eye lashes fall out, and eyelids turn inward or outward.
The incidence of xeroderma pigmentation is highest in Japan while in America it is at about 1 case in a sample size of 250,000. It is a rare genetic disease and research is still underway on how to prevent it. It can be tested for in prenatal stage through tests amniocentesis. This genetic disease can be even tested in newborns.
The symptoms for xeroderma pigmentation appear in childhood or in infancy. About 30 percent of the people who have xeroderma pigmentation develop neurological disorders involving the skin and the eyes like hearing loss, poor motor coordination, difficulty swallowing and talking, difficulty walking, seizures and mental retardation. Epilepsy is also a common complication. In an early onset of the disease, patients tend to be more susceptible to skin and organ tumors.
The skin, in xeroderma pigmentation, passes through three phases. The first stage starts after 6 months of age. The initial symptoms are seen due to over exposure to light. The skin changes on the lower legs, the neck and the trunk. The second stage is greater skin atrophy, the appearance of spider-like veins and acute pigmentation. The third stage involves the appearance of numerous cancerous melanoma or cancer cells. These growths could appear in children who are 4-5 years old and largely on areas exposed to the sun. Most cases manifest early. Rarely does it happen after the child turns 14. Adult onset of this disease is quite rare. It affects both sexes equally.
The primary treatment for xeroderma pigmentation involves protection. Children need to be especially protected well. It is important to use the correct bulbs indoor so that the light does not bother them. You should also make them wear protective clothing when the children step out and wear high protection sunscreen - up to SPF 70.
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