Symptoms of Xeroderma Pigmentosum

For those with xeroderma pigmentosum (XP), extreme sun sensitivity is at the heart of a variety of symptoms from severe sunburn that occurs with just a little sun exposure to high risk of skin cancer. Some may also experience eye effects, as well as progressive nerve effects.

Those with XP have mutations in the genes that repair damage to their DNA. Since their DNA does not get repaired as it should, they end up with cumulative damage.

Here’s what to know about detecting this rare hereditary condition—one that ultimately causes people with it to avoid the sun as much as possible.

Child in darkened room to protect from xeroderma pigmentosum

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Frequent Symptoms

Blistering and severe sunburn develop after a very short sun exposure, beginning at an early age. This occurs in about half of patients with XP and may happen after as little as 10 minutes in the sun. These burns are painful and severe, and may take more than one week to heal.

The other half of patients with XP can tan without burning, but have a tendency toward other sun reactions, such as freckling of the skin at a young age.

Other common symptoms include:

  • Very dry parchment-like skin
  • Pigmentation issues with very light and very dark patches
  • Thinning of the skin
  • Widened blood vessels, causing red lines to develop
  • Light sensitivity
  • Dry eye
  • Eyelid issues and degeneration: Patients may also lose their eyelashes.
  • Keratitis: Chronic inflammation of the cornea (the clear outer layer of the eye) may be seen. In severe cases, this can cause not only a lack of transparency of the cornea but also an increase in blood vessel density. This may eventually lead to blindness.
  • Pre-skin cancer lesions

Rare Symptoms

Progressive neurodegeneration, thought to arise from loss of nerve cells in the brain, occurs in about one-quarter of patients. Symptoms may include progressive deafness, seizures, progressive intellectual impairment, reduced tendon reflexes, skeletal muscle tightness, vocal cord paralysis, and difficulty swallowing.

Complications/Subgroup Indications

The condition is rare worldwide, but is seen more often in Japan, North Africa, and the Middle East.

Both fair-skinned and darker-skinned individuals with XP are affected by skin cancer at the same rate. Unfortunately, the pigment melanin does not offer the same protection against the sun in patients with XP as it does in the general population.

Normally, where repair mechanisms are intact, if there is UV-induced damage to darker skin, the pigment offers some protection, allowing repair to take place. This would usually help keep cancer from forming. Unfortunately, this is not the case with XP.

Anesthesia Sensitivity

If you have to undergo any surgical procedures, keep in mind that when any individuals with XP require anesthesia, there can be challenges.

Inhaled anesthetics can worsen XP symptoms; intravenous anesthesia is a better choice here. Also, since those with XP tend to be sensitive to muscle relaxants because of nerve dysfunction, minimal use of these is recommended.

If possible, it’s preferable for patients with XP to undergo procedures with the aid of regional rather than general anesthesia.

Cancer

People with xeroderma pigmentosum are at a very high risk for developing multiple skin cancers and at an increased risk for some other cancers:

  • Non-melanoma skin cancer: For those under age 20, the risk is 10,000 times greater than for the general population. The median age for this type of skin cancer in patients with XP is just 9 years old.
  • Melanoma skin cancer: For those with XP, this risk is 2,000 times greater than for those in the general population. The median age for developing this type of cancer is just 22 years, which is 30 years earlier than for others.
  • Cancer of non-pigmented areas such as the tip of the tongue: These are more common in patients with XP, particularly for those who live in sunny areas.
  • Internal cancers: Glioblastoma that affects the brain, astrocytoma affecting the spinal cord, lung cancer in smokers, and in rare instances also leukemia—these are all more common in those with XP.
  • Other cancers: Cancer of the pancreas, thyroid, uterus, breast, stomach, and kidneys have also been known to occur.

When to See a Doctor

A baby or child with XP can have a severe sunburn with minimal exposure to UV light and should be taken for medical care. Once diagnosed with XP, a child will need protection from UV light for the rest of their life.

With XP, the primary prevention centers around avoiding any sources of UV light. In addition to sunlight, this can include halogen, fluorescent, and mercury vapor lights. Those with XP must protect their eyes with UV-absorbing lenses, as well as protect their skin with sunscreens having an extremely high protective factor.

Such preventive measures can help to prolong the lifespan of individuals with XP. While only 40% of patients with XP currently tend to survive beyond the first couple of decades, those with milder disease have been known to survive beyond middle age.

One way to extend the lifespan of someone with XP is to keep an eye out for any malignancies and frequently see your doctor. The earlier these are caught, the better. This, together with regular follow-up to ensure the lesions are fully removed, can help to extend the lifespans of patients with XP.

Thus, you should regularly be on the lookout for any new lesions that appear and have these immediately checked by a doctor for signs that these are precancerous or cancerous.

Summary

People with XP have an extreme sensitivity to sunlight due to this genetic condition. Because of this, those with XP don’t have the repair mechanism necessary to fix mutations that may occur in their DNA. This makes them vulnerable to damage from UV radiation.

Symptoms include skin issues such as extreme sensitivity to the sun, as well as a tendency to develop cancerous lesions, eye issues, and progressive neurological signs in some cases.

A Word From Verywell

Currently, for patients with XP, there are significant challenges linked to UV exposure. While avoiding sun exposure remains the primary method of forestalling health issues with XP, being aware of any cancerous changes as early as possible can also make a difference.

By limiting sun exposure and ensuring that any new lesions are regularly checked, you can help minimize symptoms that occur with this genetic disorder.

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3 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  1. American Society for Clinical Oncology. Xeroderma pigmentosum.

  2. National Organization of Rare Disorders. Xeroderma pigmentosum.

  3. Naik SM, Shenoy AM, Nanjundappa A, et al. Cutaneous malignancies in xeroderma pigmentosum: earlier management improves survivalIndian J Otolaryngol Head Neck Surg. 2013;65(2):162-167. doi:10.1007/s12070-012-0614-6