Overview

Xeroderma pigmentosum (XP) is a rare, genetic (inherited) condition. Your body cannot repair skin damage caused by ultraviolet radiation (UVR) from sunlight.

XP is a lifelong condition. There is currently no known cure, but there are ways to manage XP.

People with XP are born with this condition, even if it's not diagnosed until later in life. You inherit the gene passed on from both of your parents.

Signs and symptoms of XP

People with XP can have some, or all, of these signs and symptoms.

• Burning easily in the sun, no matter what the colour of your skin.
• Freckles from an early age (under 2 years) in areas exposed to daylight.
• Eye sensitivity to bright light (photophobia).
• Eye surface cancers.
• Skin cancers.
• Skin ageing.
• Nerve or brain (neurological) problems, such as hearing loss, poor balance, poor memory or learning problems.

If you have any concerns about your skin, it is important to report them immediately. You can contact your local skin specialist (dermatologist) or the XP team at St Thomas’ Hospital.

If you have any concerns about your eyes, you can contact your local eye specialist (ophthalmologist) or the XP team.

Diagnosing XP

You need tests to diagnose XP. You might have a skin biopsy and a genetic blood test.

During a skin biopsy, we remove a small piece of skin (a sample) and send it to the laboratory for testing. You have an injection to numb the area of skin where we take the biopsy (a local anaesthetic). Your doctor or nurse can give you more information on having a skin biopsy.

During a genetic blood test, we take a small sample of blood. We send this sample to the genetics laboratory. They test it for the genes that are known to cause XP.

It usually takes up to 4 months to get your test results. We contact you when your results are ready.

Read information on genetic testing for XP.

Managing XP

Although it is a lifelong condition, there are ways to manage XP.

Ultraviolet radiation (UVR) protection

It is important to keep skin damage to a minimum. If you do not protect yourself from the sun's UVR, freckling can get worse. The chance of getting skin cancer is also much higher.

Regular skin checks (usually every 3 to 6 months) can find and treat any signs of skin cancers early. If we do not find these cancers early, they can get larger. A larger cancer causes more scarring if we remove it with surgery.

If cancer is not found early, this can be life-threatening because it might have spread to other organs.

Read more about protecting yourself using UVR and UV meters.

Vitamin D levels

Most people with XP have a low vitamin D level because they need to protect their skin from daylight.

Blood tests can check your vitamin D levels. If your level is low, we can give you vitamin D supplements. Otherwise, there is a chance that your bones will get weaker.

Read more about vitamin D levels and XP.

Regular tests

It's important to find any problems early and get support.

If you have an eye test at least every year, this can find any eyesight problems. You can then have suitable treatments, such as eye drops, glasses or a biopsy of any areas of concern in the eye.

A neurological assessment can find any brain or nerve problems. We examine you and sometimes do hearing tests, nerve conduction studies (tests to find how your nerves are working) and an MRI scan.

Emotional (psychological) support

You can speak to a psychologist if you need support to manage your XP and cope with your diagnosis.

Getting information and support

You might find it helpful to talk to other people who have XP.

Action for XP offers advice and practical help to anyone affected by XP.

HealthUnlocked is a social network, where people can connect with others who have the same health condition.