Xeroderma Pigmentosum
What is Xeroderma Pigmentosum Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by an extreme sensitivity to ultraviolet (UV) light. This condition results from gene mutations inherited from one or both parents. It primarily affects the skin, eyes, and nervous system.
Clinical Manifestations
XP manifests in multiple ways:
- Skin Symptoms: Dry, thin skin (xerosis), easy blistering from minimal sun exposure, and increased risk of precancerous skin lesions known as actinic keratoses.
- Eye Symptoms: Commonly occurring before the age of 10, symptoms include dry eye, eyelid degeneration, and corneal inflammation, among others.
- Neurological Symptoms: Roughly 25% of XP patients exhibit neurological symptoms such as difficulty swallowing, poor muscle control, and progressive hearing loss.
Risk of Cancer
Though not a cancer, XP significantly increases the risk of developing skin and other cancers. Affected individuals have:
- 10,000 times higher risk of nonmelanoma skin cancers like basal cell and squamous cell carcinomas.
- 2,000 times higher risk of melanoma.
- Increased likelihood of other cancers such as leukemia, lung, and pancreatic cancer.
Management and Prognosis
There is no cure for XP, but symptom management is possible:
- Sun Protection: Critical for reducing skin cancer risk.
- Regular Examinations: Annual eye and 6-12 monthly skin checks are recommended.
- Neurological Monitoring: Evaluations by a neurologist for reflex and hearing changes.
Treatment may include eye drops, hearing aids, and surgery for skin cancer removal or eye conditions. Vitamin D supplementation is often necessary due to reduced sun exposure.
The prognosis varies depending on symptom severity and management efficacy.
Source: https://my.clevelandclinic.org/health/diseases/24088-xeroderma-pigmentosum-xp
