Xeroderma pigmentosum
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Xeroderma pigmentosum
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First Aid
2024
2023
2022
2021
Xeroderma pigmentosum p. 37
Summary
Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder that affects the body's ability to repair damage to DNA caused by ultraviolet (UV) radiation. Individuals with XP are extremely sensitive to UV radiation and are at a high risk for developing skin cancers like basal cell carcinoma, squamous cell carcinoma, and melanoma. They may also develop eye problems, including photophobia, conjunctivitis, and corneal ulcers. Symptoms of XP can include dry, scaly, and pigmented skin, and uneven pigmentation. In severe cases, neurological symptoms such as developmental delay, progressive hearing loss, and cognitive impairment can also occur. Treatment primarily focuses on preventing(avoiding exposure to UV radiation by staying indoors, wearing protective clothing and sunscreen, and using protective eyewear) and managing symptoms.