Understanding Xeroderma Pigmentosum
Xeroderma pigmentosum (XP) is a rare inherited condition where the skin and eyes are extremely sensitive to ultraviolet (UV) light.
Key Fact: People with XP have a 10,000-fold increase in the risk of developing certain types of skin cancer due to the body's inability to repair UV-induced DNA damage.
Common Symptoms
Severe Sunburn
Extreme burning of the skin after only a few minutes of sun exposure.
Freckling
Heavy freckling on sun-exposed areas appearing before the age of 2.
Eye Irritation
Cloudy corneas and eye discomfort when exposed to bright light (photophobia).
Skin Cancer
Development of multiple skin cancers (basal cell, squamous cell, or melanoma) at a young age.
Risk Factors
- Family history (autosomal recessive inheritance)
- Consanguinity (parents who are related)
Diagnosis & Treatment
Diagnosis
Diagnosis is confirmed by testing the skin's ability to repair DNA damage after UV exposure.
Common Treatments
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Strict UV Protection: Complete avoidance of sunlight and use of UV-shielding clothing, hats, and high-SPF sunscreen.
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Regular Skin Exams: Frequent screenings by a dermatologist to identify and remove skin cancers early.
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Oral Retinoids: Medications that may help prevent the formation of new skin cancers.