Xeroderma

Overview

Xeroderma Pigmentosum (XP) is a rare genetic disorder that heightens sensitivity to sunlight, making even brief sun exposure potentially harmful. Symptoms typically emerge in early childhood and include severe sunburns, dry and fragile skin, and freckling. XP can also cause eye problems, such as dryness, irritation, and vision loss, and neurological issues like motor difficulties and cognitive decline in some cases.

While there is no cure, managing XP involves rigorous sun protection, including the use of sunscreen, protective clothing, and regular skin and eye check-ups. Treatment for related conditions, such as skin cancer or hearing loss, and vitamin D supplementation may also be necessary. XP is not contagious and results from genetic mutations inherited from one or both parents.

What is Xeroderma Pigmentosum?

National Institutes of Health (NIH) describes XP as a rare autosomal recessive genodermatosis which is characterized by severe photosensitivity, skin pigmentary changes, malignant tumour development and occasionally progressive neurologic degeneration. This condition shows up in early childhood, and people with it get skin cancer much more easily than others.

Affecting roughly 1 in a million people in the US and Europe, XP significantly increases the risk of skin cancer, with individuals being up to 10,000 times more likely to develop non-melanoma skin cancers and 2,000 times more likely for melanoma compared to the general population.

While it's not cancer itself, it raises the risk of many types of skin cancer by thousands of times. Other cancers are also more likely in people with XP, though not as common as skin cancer. XP is very rare, affecting only about 1 in a million people in the US and Europe. It's slightly more common in some other parts of the world. Studies also suggest an increased risk for other cancers like brain, breast, leukaemia, and lung cancer.

Symptoms of Xeroderma Pigmentosum

XP can affect different parts of your body. Here's a breakdown of the signs to watch out for skin, eyes and neurological issues.

People with XP tend to burn very easily, even after a short time in the sun. Their skin might also be dry and thin, and they may freckle a lot before the age of 2. In some cases, there might be patches where the skin color is lighter or darker than usual, or the skin might become very thin and fragile. They may also get red lines on their skin. Another concern is precancerous growths called actinic keratoses.

Problems with the eyes usually start before the age of 10 in people with XP. Their eyes might feel dry and irritated, and their eyelids might become thin and weak. The clear part of the eye called the cornea, can become inflamed or cloudy. XP can also make people sensitive to light and cause them to lose their eyelashes. Over time, these problems can lead to vision loss or even blindness.

In about a quarter of people with XP, the nervous system can be affected. This can cause problems like difficulty swallowing, loss of reflexes, and trouble controlling muscles. Thinking skills might decline over time, and some people may experience hearing loss. In severe cases, the head may be smaller than usual, and there may be problems with the vocal cords. These problems are thought to happen because nerve cells in the brain are damaged.

Causes of Xeroderma Pigmentosum

Xeroderma Pigmentosum is a genetic disorder caused by mutations in specific genes, which can be inherited from one or both parents.

Tests and Treatment for Xeroderma Pigmentosum

The diagnosis of XP can be established with studies performed in special labs. The studies or tests include cellular hypersensitivity to UV radiation and chromosomal breakage studies, complementation studies and gene sequencing.
While there is no treatment for Xeroderma Pigmentosum, there are ways to manage the symptoms and keep you feeling your best. Here's what you might expect:

Eye Care: If your eyes get dry and irritated, your doctor might prescribe special eye drops to soothe them.

Hearing Help: If your hearing worsens, your doctor might recommend hearing aids to help you hear better. In some cases, special implants might be an option.

Surgery: If skin cancer develops, it can be removed with surgery. Doctors can also use surgery to fix problems with your eyelids or corneas, and in severe cases, they might even be able to transplant a new cornea for you.

Vitamin D Boost: Since sun exposure is dangerous for people with XP, they might not get enough vitamin D, which is important for bone health. To make up for this, doctors might recommend vitamin D supplements.

Prevention of Xeroderma Pigmentosum

Wear long sleeves, pants, hats, and gloves whenever you're outside. Sunscreen is essential too, with SPF 35+ broad-spectrum protection being best. Special UV-blocking sunglasses are important for your eyes. There are even UV light meters to help you find shade and avoid areas with strong sun exposure. See an eye doctor (ophthalmologist) at least once a year to check for vision problems. Visit a skin doctor (dermatologist) every 6-12 months for checks. In between visits, examine your skin monthly for any changes and get any new spots checked by your dermatologist right away. Regular visits with a brain and nerve specialist (neurologist) are important to monitor reflexes and hearing. They can recommend treatment if any problems arise.