Health A-Z

Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by extreme sensitivity to sunlight (photosensitivity) and an increased risk of developing skin cancer. It is caused by mutations in genes involved in DNA repair mechanisms, particularly those responsible for repairing damage caused by ultraviolet (UV) radiation from the sun. Here's an overview of its symptoms, treatment options, and diagnosis.

1. Photosensitivity: Individuals with XP experience severe sunburn and skin damage from minimal exposure to sunlight or other sources of UV radiation.

2. Skin Changes: XP may cause changes in skin pigmentation, including freckling, irregular dark spots (hyperpigmentation), and areas of skin atrophy (thinning).

3. Eye Abnormalities: Some individuals with XP may develop eye problems such as photophobia (light sensitivity), conjunctivitis (inflammation of the conjunctiva), or corneal ulcers.

4. Increased Cancer Risk: XP significantly increases the risk of developing skin cancers, including basal cell carcinoma, squamous cell carcinoma, and melanoma, at a young age.

1. Sun Protection: The primary treatment for XP involves strict sun protection measures to minimize exposure to UV radiation:

   • Avoiding sunlight, especially during peak hours (10 am to 4 pm)
   • Wearing protective clothing, including long sleeves, pants, wide-brimmed hats, and sunglasses with UV protection
   • Using broad-spectrum sunscreen with a high sun protection factor (SPF) regularly, even on cloudy days

2. Regular Skin Examinations: Individuals with XP should undergo regular skin examinations by a dermatologist to monitor for skin changes and detect skin cancers early.

3. Surgical Management: If skin cancers develop, they may require surgical removal. Mohs micrographic surgery is often used for precise removal of skin cancers with minimal damage to surrounding tissue.

4. Genetic Counseling: Genetic counseling and testing may be offered to individuals and families affected by XP to provide information about the inheritance pattern of the condition, assess the risk of passing it on to future generations, and discuss family planning options.

1. Clinical Evaluation: Diagnosis of XP is based on clinical features such as photosensitivity, skin changes, and a history of skin cancer at a young age.

2. DNA Repair Assays: Laboratory tests, such as DNA repair assays, may be performed to assess the efficiency of DNA repair mechanisms in response to UV radiation exposure. These tests can help confirm the diagnosis of XP and determine the specific genetic mutations involved.