Xeroderma Pigmentosum
Also known as XP
This article is general health information for the selected condition. It is not a diagnosis and does not replace clinical judgement. If you have questions or need treatment advice, please consult a qualified healthcare professional.
What is xeroderma pigmentosum?
Xeroderma pigmentosum is a rare inherited disorder in which cells cannot repair DNA damage caused by ultraviolet light. Skin cancers develop in childhood, thousands of times more often than in the general population. Strict lifelong protection from ultraviolet light is the central treatment, and affected children are sometimes described as children of the night.
Causes
- Mutations in nucleotide excision repair genes
- Autosomal recessive inheritance
- Failure to repair ultraviolet induced DNA damage
- Accumulation of mutations in skin and eye cells
Symptoms
- Severe sunburn from minimal sun exposure
- Freckling in sun exposed areas before age 2
- Dry parchment like skin
- Skin cancers developing in childhood
- Extreme sensitivity of the eyes to light
- Clouding of the cornea and eyelid damage
- Progressive neurological problems in some subtypes
Risk factors
- Both parents carrying a causative mutation
- Consanguinity
- Affected sibling
- Higher prevalence in Japan, North Africa and the Middle East
Diagnosis
- Clinical suspicion from severe early sun sensitivity
- DNA repair studies on cultured skin cells
- Genetic testing to identify the affected gene
- Dermatological and ophthalmological assessment
- Neurological assessment where indicated
- Genetic counselling for the family
Treatment
- Complete avoidance of ultraviolet light exposure
- Protective clothing, UV filtering film and face shields
- High factor broad spectrum sunscreen applied rigorously
- Frequent dermatological surveillance with early lesion removal
- Regular ophthalmology review
- Vitamin D supplementation given sun avoidance
- Psychological and educational support for the family
Self care
- Avoid all ultraviolet exposure rigorously, including through windows
- Apply high factor broad spectrum sunscreen to all exposed skin
- Wear UV protective clothing, wide brimmed hats and face shields
- Use UV filtering film on home, school and car windows
- Check indoor lighting with a UV meter and replace unsafe bulbs
- Examine skin and eyes regularly for new lesions
- Take vitamin D supplements given sun avoidance
When to see a doctor
Book an appointment if:
- Any new or changing skin lesion
- Severe sunburn from minimal exposure in a child
- Freckling in a young child on sun exposed skin
- Eye irritation, redness or vision change
- Hearing difficulty or new neurological symptoms
- Regular scheduled dermatology and ophthalmology reviews
Some symptoms need emergency care rather than an appointment. See the warning signs listed above.
Prevention
- The condition is inherited and cannot be prevented
- Skin cancers are largely preventable through absolute UV avoidance
- Genetic counselling and carrier testing for families
- Prenatal diagnosis is available
- Early diagnosis before sun damage accumulates is critical
Outlook
Outcome depends almost entirely on how early and how strictly ultraviolet protection begins. With rigorous protection from infancy, skin cancers can be greatly delayed and many people reach adulthood. Without it, cancers usually appear before age ten. Around a quarter develop progressive neurological problems, which UV protection does not prevent.
Common questions
How much does skin cancer risk increase?
Enormously. The risk of non melanoma skin cancer is roughly 10,000 times higher and melanoma around 2,000 times higher than average, with first cancers typically appearing before age 10 without protection.
Is normal life possible?
With rigorous ultraviolet protection, many people attend school and work while reorganising activity around darkness and protected indoor environments. Outcomes depend heavily on how early and how strictly protection begins.
Does indoor lighting matter?
Yes. Some fluorescent and halogen lamps emit ultraviolet light, so bulbs may need replacing and windows filmed. UV meters are often used to check environments before entering them.
References
Important: Dard AI is not a medical device and does not diagnose, treat, or replace clinician judgement. This article is general information only. Always consult a qualified healthcare professional about diagnosis and treatment, and seek emergency care for severe or rapidly worsening symptoms.