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Xeroderma pigmentosum

Information from the Medical Directory health library.

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This information supports, and does not replace, advice from your healthcare professional.

Overview

Xeroderma pigmentosum is a rare genetic disorder characterized by extreme sensitivity to UV light, causing skin damage and increased risk of skin cancer.

Symptoms

Severe sunburn after minimal sun exposure Freckling and pigmentation changes on sun-exposed skin Dry, scaly skin High risk of skin cancers

Causes

Inherited mutations in DNA repair genes

Diagnosis

Clinical evaluation of skin symptoms Genetic testing for DNA repair gene mutations

Treatment

Strict sun protection and UV avoidance Regular dermatological check-ups Surgical removal of skin cancers if they develop

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