Xeroderma Pigmentosum (XP): Symptoms, Causes & Treatment - Cleveland Clinic
Xeroderma pigmentosum (XP) is a rare genetic disorder. It causes hypersensitivity to ultraviolet (UV) light, eye problems and neurological symptoms. XP occurs because of a gene change (mutation) you inherit from your parents.
Xeroderma Pigmentosum - StatPearls - NCBI Bookshelf
2023年7月4日 · Xeroderma pigmentosum is a rare autosomal recessive genodermatosis that results due to mutations in nucleotide excision repair. The condition is characterized by severe photosensitivity, skin pigmentary changes, malignant tumor development, and occasionally progressive neurologic degeneration.
Xeroderma pigmentosum - MedlinePlus
Xeroderma pigmentosum, commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet radiation (UVR), which is present in sunlight and may also be found in some types of artificial lighting. This condition mostly affects the eyes and areas of skin exposed to the sun.
Xeroderma Pigmentosum - Symptoms, Causes, Treatment | NORD
2021年8月23日 · Xeroderma pigmentosum (XP) is a rare inherited multisystem disorder characterized by a heightened sensitivity to the DNA damaging effects of ultraviolet radiation (UV). The main source of UV is the sun. The major signs and symptoms of XP can be seen in sun-exposed areas of the body.
Xeroderma Pigmentosum: Symptoms, Treatment, and More
2024年7月10日 · Xeroderma pigmentosum (XP) is a rare genetic condition affecting DNA repair. People with xeroderma pigmentosum are extremely sensitive to ultraviolet (UV) rays like those from the sun.
Xeroderma pigmentosum
Xeroderma pigmentosum is an autosomally recessive inherited disease, which means that a faulty xeroderma pigmentosum gene comes from each parent. Carriers of the xeroderma pigmentosum trait have one xeroderma pigmentosum gene and one normal gene and do not show signs or symptoms of the disease.
Xeroderma pigmentosum: Rare disease causes an extreme …
People who have an extreme sensitivity to sunlight are born with a rare disease known as xeroderma pigmentosum (XP). They must take extreme measures to protect their skin from ultraviolet (UV) light. Anything that emits UV light, including the sun and some lightbulbs, can damage their skin.
Xeroderma pigmentosum | About the Disease | GARD - Genetic …
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).
Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf
2003年6月20日 · A xeroderma pigmentosum multigene panel that includes all of the genes listed in Table 1 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying ...
Xeroderma pigmentosum - Symptoms, diagnosis and treatment …
2023年6月7日 · Xeroderma pigmentosum (XP) is a rare autosomal recessive inherited disorder of DNA repair predominantly characterized by extreme sensitivity to ultraviolet radiation exposure, pigmentary skin changes (lentigines), ocular changes, highly increased predisposition to skin cancers, and, in some patients, progressive neurodegeneration.
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