Xeroderma pigmentosum (XP)

Xeroderma pigmentosum (XP) is a very rare skin disorder where a person is highly sensitive to sunlight, has premature skin ageing and is prone to developing skin cancers. Xeroderma pigmentosum is caused by cellular hypersensitivity to ultraviolet (UV) radiation, as a result of a defect in the DNA repair system.

What causes xeroderma pigmentosum?
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Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems.

What are the symptoms of xeroderma?
Symptoms
Sunburn that does not heal after just a little bit of sun exposure.
Blistering after just a little bit of sun exposure.
Spider-like blood vessels under the skin.
Patches of discolored skin that get worse, resembling severe aging.
Crusting of the skin.
Scaling of the skin.
Oozing raw skin surface.

Is xeroderma pigmentosum a type of cancer?
What is xeroderma pigmentosum? Xeroderma pigmentosum (XP) is a hereditary condition characterized by extreme sun sensitivity, leading to a very high risk of skin cancer and other medical problems. People with XP are extremely sensitive to ultra-violet (UV) radiation from the sun. This includes UV type A and UV type B.

What happens when a person with XP is exposed to the sun?
The word “xeroderma” means extremely dry skin and “pigmentosum” refers to the freckles and dark spots. People who have XP may also develop eye problems. Sunlight can cause cancers to form on their eyes or eyelids. Cataracts and other eye problems may also arise.

How do you diagnose xeroderma pigmentosum?
Xeroderma pigmentosum (XP) is diagnosed based on the symptoms and clinical exam and may be confirmed by the results of genetic testing . Specialized testing may be done on skin cells to check for sensitivity to ultraviolet radiation .

How is xeroderma pigmentosum treated?
There is no cure for xeroderma pigmentosum, so treatment focuses on any problems that are present and preventing future problems from developing. Any cancers or suspicious lesions should be treated or removed by a skin specialist (dermatologist).




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  Xeroderma Pigmentosum