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Xeroderma pigmentosum
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is an inherited condition that causes extreme sensitivity to ultraviolet (UV) radiation, leading to a high risk of skin cancer and premature aging.

Overview

Individuals with xeroderma pigmentosum (XP) are unable to properly repair DNA damage caused by ultraviolet radiation (UVR) from sunlight and some artificial light. This results in severe skin reactions, a significantly increased risk of skin cancer, and potential neurological abnormalities.

Symptoms

  • Skin sensitivity: Severe sunburn, blistering, and redness after minimal sun exposure.
  • Pigmentation changes: Freckling in sun-exposed areas by age 2, along with dry skin (xeroderma).
  • Cancer risk: A 10,000-fold increase in non-melanoma skin cancer and a 2,000-fold increase in melanoma.
  • Eye issues: Painful sensitivity to light (photophobia), bloodshot/irritated eyes, and clouding of the cornea.
  • Neurological abnormalities: Occurring in about 30 percent of cases, these include hearing loss, poor coordination, difficulty walking, and intellectual decline.

Causes

XP is caused by variants in at least nine genes (including DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, and XPC). These genes are essential for the nucleotide excision repair (NER) process, which identifies and fixes DNA damage. When these genes are mutated, DNA damage accumulates, causing cells to malfunction, die, or grow uncontrollably into tumors.

Inheritance

Xeroderma pigmentosum is inherited in an autosomal recessive pattern. Both copies of the gene in each cell must have a variant to cause the disorder.

Frequently Asked Questions

XP can cause photophobia, corneal clouding, and eye irritation. Wear UV‑blocking sunglasses or goggles at all times outdoors. Use lubricating eye drops to relieve dryness, and schedule regular ophthalmology visits for early detection of corneal changes or cataracts. If you experience pain, redness, or vision changes, seek immediate eye care.
Look for new or changing skin lesions that are irregular, have uneven borders, multiple colors, or are larger than a pencil eraser. Pay attention to lesions that itch, bleed, or do not heal after a few days. Any new blister, ulcer, or thickened area on sun‑exposed skin should be evaluated promptly.
There is no cure that restores DNA repair, but regular use of topical retinoids (e.g., tretinoin) can help reduce actinic keratoses. Some clinicians use oral retinoids (acitretin) for high‑risk patients, though careful monitoring for side effects is required. Photodynamic therapy and cryotherapy are options for treating precancerous lesions. Early and frequent skin examinations by a dermatologist experienced with XP are essential.
Wear tightly woven, long‑sleeved clothing and wide‑brimmed hats that cover the face, neck, and arms. Use broad‑spectrum SPF 50+ sunscreen on all exposed skin, reapplying every 2 hours or after swimming or sweating. Avoid artificial UV sources such as tanning beds, UV lamps, and certain fluorescent lights. Use UV‑blocking sunglasses and consider a face shield or goggles when outdoors. Keep the skin moisturized with fragrance‑free, hypoallergenic creams to reduce dryness and irritation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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