Xeroderma pigmentosum (XP) is a condition you inherit that makes your skin and eyes extremely sensitive to sunlight, especially the harmful ultraviolet (UV) rays. The name XP comes from two main things it causes: dry skin (xeroderma) and changes in skin color (pigmentosum).
There are different types of XP, each with its own features, but they all share the sensitivity to UV light. XP is often found in babies who get sunburned even after a short time in the sun. Even if you don’t see much sun damage, the risk of skin cancer is much higher for children with XP. On average, non-melanoma skin cancer can start at 9 years old, and melanoma at 22 years old. UV light can also harm the eyes, leading to vision problems or even blindness. This can happen because of clouding of the cornea, inflammation, non-cancerous growths, or eye cancer. Some kids with XP might have other issues like neurological problems and internal cancers, but these aren’t always linked to UV damage. While cognitive and motor problems can occur, some might also experience hearing loss, intellectual disability, autism, and low blood sugar that can harm the nerves. There’s also a higher chance of internal cancers, especially brain cancers, even if there are no neurological issues. This increased risk is thought to be connected to things in the environment, like cigarette smoke. Managing XP means staying away from the sun and UV light, especially covering the skin and eyes with clothing, sunscreen, and UV-protective sunglasses. Avoiding things that can cause cancer, like cigarette smoke, is also important.
Many different genes can cause XP; the test we offer includes XPA (Group A) and XPC (Group C), Both are caused by pathogenic (disease-causing) variants in these genes and both exhibit autosomal recessive inheritance, meaning both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Another name for this condition is DeSanctis-Cacchione syndrome.
Resources:
The Xeroderma Pigmentosum Society
Revised November 2023
