Xeroderma pigmentosum

Overview 

Xeroderma Pigmentosum is a rare genetic condition in which the skin is extremely sensitive to ultraviolet (UV) rays from sunlight. Due to a defect in DNA repair, the body cannot properly fix damage caused by UV exposure.

This leads to early skin damage, pigmentation changes, and a very high risk of skin cancers at a young age. Strict sun protection and early medical care are essential.

Types of Xeroderma Pigmentosum Disease

• XP-A to XP-G Types: Based on specific gene mutations affecting DNA repair
• XP Variant (XP-V): Milder form with partial DNA repair ability

Symptoms of Xeroderma Pigmentosum

• Severe sunburn after minimal sun exposure
• Freckling at an early age
• Dry or discolored skin
• Dark spots or pigmentation changes
• Eye sensitivity to light
• Vision problems
• Neurological symptoms in some cases

Causes of Xeroderma Pigmentosum

• Genetic mutation affecting DNA repair enzymes
• Autosomal recessive inheritance
• Inability to repair UV-induced skin damage

Complications of Xeroderma Pigmentosum

• Skin cancers (basal cell carcinoma, melanoma)
• Eye damage and vision loss
• Neurological issues
• Severe skin damage
• Reduced life expectancy if untreated

Risk Factors of Xeroderma Pigmentosum

• Family history of the disease
• Genetic inheritance from both parents
• Consanguinity in some populations

Prevention of Xeroderma Pigmentosum

• Strict avoidance of sunlight
• Use of protective clothing and sunscreen
• UV-blocking glasses
• Regular skin examinations
• Early detection of skin changes