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Xeroderma Pigmentosum (XP)

Xeroderma Pigmentosum (XP)



Overview

Xeroderma pigmentosum (XP) is a rare genetic disorder that causes hypersensitivity to ultraviolet (UV) light. Symptoms usually affect the parts of your body that are regularly exposed to the sun, such as your face, arms and lips. People with XP usually start showing symptoms in early childhood. They may get blistering sunburns after even just a few minutes in the sun.

How does xeroderma pigmentosum affect my body?

People with XP develop sunburns easily and have a higher risk of skin cancer. Compared to those with average risk, people with XP have:

10,000 times higher risk of developing nonmelanoma skin cancer, such as basal cell carcinoma or squamous cell carcinoma.

2,000 times higher risk of developing melanoma.

Some reports have also found that people with XP are more likely to develop cancers such as:

Astrocytoma.

Breast cancer.

Glioblastoma.

Kidney cancer.

Leukemia.

Lung cancer.

Pancreatic cancer.

Stomach cancer.

Testicular cancer.

Thyroid cancer.

Uterine cancer.

Symptoms

Symptoms of XP can vary but usually affect your skin, eyes and nervous system.

Xeroderma pigmentosum skin symptoms

Skin symptoms may include:

Blistering sunburns.

Dry, thin skin (xerosis).

Freckling (lentigos) before age 2.

Patches of increased and decreased skin pigment (poikiloderma).

Skin thinning (atrophy).

Red lines on the skin caused by blood vessel widening (telangiectasia).

People with XP also have an increased risk of precancerous skin lesions called actinic keratoses.

Xeroderma pigmentosum eye symptoms

Eye symptoms usually affect people with XP before age 10. These symptoms may include:

Dry eye.

Eyelid degeneration (atrophy).

Inflammation of your cornea (keratitis).

Lack of transparency in the outer layer of your eye (cornea opacification).

Light sensitivity (photophobia).

Loss of eyelashes.

Over time, these symptoms may cause vision loss or even blindness. People with XP also have a higher risk of developing eye cancers.

Xeroderma pigmentosum neurological symptoms

Xeroderma pigmentosum can also affect your nervous system. About 1 in 4 people with XP develop neurological symptoms such as:

Dysphagia (difficulty swallowing).

Loss of reflexes.

Poor muscle control (ataxia) and spasticity.

Progressive loss of thinking (cognitive) skills.

Progressive hearing loss caused by inner ear nerve damage.

Smaller head size (microcephaly).

Vocal cord paralysis.

Experts think these symptoms develop because of a loss of nerve cells in your brain.

What causes xeroderma pigmentosum?

Xeroderma pigmentosum is a genetic disorder, meaning it occurs because of atypical gene changes (mutations). You inherit these gene mutations from one or both parents.

Diagnosis

Your healthcare providers may suspect XP based on your symptoms. They use a blood test to confirm a diagnosis of XP. The blood test checks for the gene mutations that cause xeroderma pigmentosum

Treatment

There’s no cure for xeroderma pigmentosum. But your healthcare provider may give you treatment options to reduce symptoms, including:

Eye drops: Your provider may prescribe lubricating eye drops to reduce inflammation in your cornea.

Hearing aids: If you have hearing loss that’s worsening, your provider may prescribe hearing aids. In some cases, they may recommend cochlear implants.

Surgery: You may need surgery to remove skin cancer if it develops. Or surgery may treat certain eye conditions, such as eyelid drooping (ptosis) or cornea problems. In severe cases, you may have a cornea transplant.

Vitamin D supplements: Many people get adequate vitamin D through a combination of sun exposure and diet. Because people with XP need to avoid the sun, they may need a vitamin D supplement.

What can I expect if I have xeroderma pigmentosum?

If you have xeroderma pigmentosum, you need to take several steps to manage your overall health, including:

Sun protection: Protecting your skin from UV rays is the most important step in managing XP. Wear sun-protective clothing, including long sleeves, pants, gloves and hats. People should also use UV-blocking sunglasses and wear broad-spectrum sunscreen with SPF 35+ daily. Experts also recommend using a UV light meter to find and avoid areas in your environment with the highest levels of UV exposure.

Eye exams: An eye specialist (ophthalmologist) checks for any changes that could affect your vision, such as eyelid drooping or growths on your eye. You should see an eye doctor at least once a year or more frequently, as directed by your healthcare provider.

Skin checks: You should see a skin specialist (dermatologist) every six to 12 months or more frequently, as directed by your healthcare provider. The dermatologist checks for signs of cancer or precancerous growths. Between dermatology visits, you should examine your skin at least once a month to check for any changing skin lesions. A dermatologist should examine any new lesions or growths right away.

Neurological care: People with XP should have regular exams with a brain, spine and nerve specialist (neurologist) to check their reflexes and hearing. If your healthcare provider notices any changes in these functions, they can recommend treatment options to slow or stop the progression.

Type of Doctor Department : A dermatologist

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