What is the cause of XP sun disease?

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.

Is there a cure for XP?

There isn’t a cure for XP, but its symptoms can be managed. Staying out of the sun and avoiding other UV light sources is crucial. This means slathering up with sunscreen and covering up completely whenever going out of doors.

Why is xeroderma pigmentosum so common in India?

XP is believed to be more common in India due to genetic mutation caused by the high prevalence in consanguine marriages – those between second cousins or closer relatives.

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 .

What happens to the body when you have xeroderma pigmentosum?

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.

What type of mutation causes xeroderma pigmentosum?

One of the most frequent defects in xeroderma pigmentosum is an autosomal recessive genetic defect in which nucleotide excision repair (NER) enzymes are mutated, leading to a reduction in or elimination of NER. If left unchecked, damage caused by ultraviolet light can cause mutations in individual cell’s DNA.

How does xeroderma pigmentosum work?

XP is an autosomal recessive genetic condition caused by alterations (mutations) in nine different genes. Eight of the genes make up the nucleotide excision repair pathway (NER) that identities and repairs UV induced DNA damage. The ninth gene acts to bypass unrepaired damage.

Who does xeroderma pigmentosum affect?

Xeroderma pigmentosum is a rare genetic disorder that affects the skin, the eyes, and sometimes the nervous system. It disrupts the body’s ability to repair damage from sunlight and other sources of UV light. Approximately 1 in 1 million people in the United States have xeroderma pigmentosum (XP).