Xeroderma pigmentosum is an example of a genetic disorder that involves
Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight.eurological abnormalities are also thought to result from an accumulation of DNA damage, although the brain is not exposed to UV rays. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not. Kaprosi named the disease in 1882. The term xeroderma pigmentosum refers to the appearance and texture of affected skin -- it's leathery and has increased pigmentation. Much later, physicians discovered that the disease was caused by a genetic disorder.he third stage involves the development of skin cancer. While the skin's sensitivity to ultraviolet radiation is the most common symptom of XP, some children with the disease suffer other problems. Around 20 percent of children with XP also suffer neurological damage. Their windows are covered with protective film, blinds and curtains. They only venture outdoors at night. Even walking into a room lit by fluorescent bulbs can be risky. They suffer from a rare condition called xeroderma pigmentosum (XP).In the United States, the frequency of cases is about one in every 250,000 people [source: Diwan ]. This genetic condition affects a person's ability to recover from ultraviolet radiation.he third stage involves the development of skin cancer. While the skin's sensitivity to ultraviolet radiation is the most common symptom of XP, some children with the disease suffer other problems. Around 20 percent of children with XP also suffer neurological damage. Xeroderma pigmentosum: An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses.eroderma pigmentosum is listed as a  rare disease  by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Xeroderma pigmentosum, or a subtype of Xeroderma pigmentosum, affects less than 200,000 people in the US population. Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 in 1 million people in the United States and Europe. The condition is more common in Japan, North Africa, and the Middle East.eurological abnormalities are also thought to result from an accumulation of DNA damage, although the brain is not exposed to UV rays. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not. 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.eurological abnormalities are also thought to result from an accumulation of DNA damage, although the brain is not exposed to UV rays. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not. xeroderma pigmentosum-caused by mutations in the XPA gene. At least 25 mutations in the XPA gene have been found to cause xeroderma pigmentosum. Mutations in this gene are responsible for a very severe form of the disorder that is more common in the Japanese population than in other populations.he neurological abnormalities are thought to result from a buildup of DNA damage, although the brain is not exposed to UV rays. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not. Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER).atients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). Source: CRISP. Xeroderma pigmentosum: A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.eroderma pigmentosum is listed as a  rare disease  by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Xeroderma pigmentosum, or a subtype of Xeroderma pigmentosum, affects less than 200,000 people in the US population. Xeroderma pigmentosum: rare pigmentary atrophic autosomal recessive disease manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that permits excisional repair of utraviolet damaged DNA.eroderma pigmentosum is listed as a  rare disease  by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Xeroderma pigmentosum, or a subtype of Xeroderma pigmentosum, affects less than 200,000 people in the US population.
An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses.