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Xeroderma pigmentosum
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Xeroderma pigmentosum
Lena Ebo
What is Xeroderma pigmentosum?
Xeroderma pigmentosum, which is commonly known as , is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight.
Topic
People with XP have a greatly increased risk of developing skin cancer.
The condition affects mostly the eyes and sun-exposed areas.
XP is caused by mutations in genes that are involved in repairing damaged DNA.
Symptoms
Topic
Eye symptoms
- Severe sensivity to sunlight
- Eyes are easily becoming irritated, bloodshot and clouded
Nervous system (neurologic) symptoms:
- Intellectual disability
- Delayed growth
- Loss of hearing
- Muscle weakness of the legs and arms
Skin symptoms
- Abnormal dark spots
- Skin cancer at a very young age
- Severe sunburns
- Extremely dry skin
- Freckling of the skin
- Rough-surfaced skin growths
Inheritance pattern
This condition is inherited in an autosomal recessive pattern.
Frequency
The condition is more common in Japan, North Africa, and the Middle East than in the United States or Europe. It occurs equally commonly in males and females.
Treatment
The goal of treatment is to protect the patient from sunlight.
- Sunscreens
- Protective clothing
- Eyewear