A genetic disorder known as xeroderma pigmentosum (XP) is characterized by a high sensitivity to ultraviolet radiation (UVR), which can be present in some artificial lighting sources as well as in sunshine.
This syndrome is associated with an increased risk of UVR-induced malignancies and mostly affects the eyes and sun-exposed parts of the skin. People who have XP frequently age too quickly, and some may also have neurological problems.
Typically, xeroderma pigmentosum symptoms first appear in early childhood or infancy. After just a few minutes in the sun, around half of the affected youngsters get severe sunburn, which can cause blistering and redness that lasts for weeks. Some kids with XP, however, are able to tan normally.
By the time they are two years old, almost every child with XP has freckles on their lips, arms, and face from sun exposure. It is uncommon for young children without the disease to have this kind of freckling. For those who are affected, exposure to sunlight frequently results in changes in skin pigmentation and dry skin (xeroderma). The condition gets its name from these features.
Those who have xeroderma pigmentosum may have excruciatingly high UVR sensitivity in their eyes (photophobia). The cornea, the transparent front layer of the eyes, may become hazy and bloodshot if the eyes are not shielded from UV radiation. Some patients have thinning eyelids that unnaturally tilt inward or outward, and their eyelashes fall away. Xeroderma pigmentosum is linked to noncancerous growths on the eye in addition to an elevated risk of cancer on the surface of the eye. Many of these anomalies of the eyes might cause vision problems.
An individual will be a carrier for the disorder but typically not exhibit symptoms if they inherit one working gene and one non-working gene for it. With each pregnancy, there is a 25% chance that two carrier parents will both pass the non-working gene and have an afflicted child. With every pregnancy, there is a 50% chance that they will become carriers like their parents. A child has a 25% chance of inheriting functional genes from both parents.
With every pregnancy, there is a 50% chance that they will become carriers like their parents. A child has a 25% chance of inheriting functional genes from both parents. Both males and females have the same chance of inheriting the illness.
Consanguineous parents—those who are related by blood—are more likely than unrelated parents to share the same defective gene, which raises the possibility that their offspring will have a genetic condition that is recessive.
Associated Genes
Nine distinct genes, including DDB2 (XP-E), ERCC1, ERCC2 (XP-D), ERCC3 (XP-G), ERCC4 (XP-F), ERCC5 (XP-B), POLH (XP-V or variation), XPA, and XPC, may not function in people with XP.
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