Introduction
Xeroderma pigmentosum (XP) is a rare genetic disorder that affects the skin’s ability to repair damage caused by ultraviolet (UV) rays from the sun. People with XP have a defect in the DNA repair system, making them extremely sensitive to sunlight. Even small exposure can cause sunburns, skin damage, and increase the risk of skin cancer.
Cause of Xeroderma Pigmentosum
XP is caused by mutations in the genes responsible for nucleotide excision repair (NER). These genes normally fix DNA damage caused by UV rays. When they don’t work properly, damaged DNA builds up, leading to cell malfunction and diseases like cancer.
Inheritance
XP is an autosomal recessive disorder. This means a child must inherit one faulty gene from each parent to develop the condition. If a person inherits only one defective gene, they are a carrier but do not show symptoms.
Symptoms of Xeroderma Pigmentosum
- Severe sunburn after minimal sun exposure
- Dry, scaly skin (xeroderma)
- Freckling and dark spots at an early age
- High risk of skin cancers, including melanoma and basal cell carcinoma
- Eye problems: dryness, irritation, and risk of eye cancer
- In some cases, neurological issues like hearing loss or learning difficulties
Diagnosis
- Clinical observation of symptoms
- Genetic testing to confirm mutations in DNA repair genes
- Cell tests to measure DNA repair ability after UV exposure
Treatment and Management
There is no cure for XP, but symptoms can be managed:
- Strict protection from sunlight: sunscreen, protective clothing, UV-blocking films on windows
- Regular checkups to detect and treat skin cancers early
- Eye care and frequent eye exams
- Neurological support if symptoms are present
- Genetic counseling for families
Conclusion
Xeroderma pigmentosum is a serious condition that requires lifelong care and protection from UV light. Early diagnosis and strict preventive measures can help reduce the risk of complications. With careful management, people with XP can lead longer, healthier lives despite the challenges.