Xeroderma pigmentosum - Wikipedia
网页Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. [1] Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. [1]
Xeroderma Pigmentosum (XP): Symptoms, Causes & Treatment
网页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. There’s no cure for XP, but treatment can lower your risk of skin cancer and other complications.
Xeroderma Pigmentosum - StatPearls - NCBI Bookshelf
网页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 - Symptoms, Causes, Treatment | NORD
网页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 - MedlinePlus
网页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, diagnosis and treatment
网页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.
Xeroderma pigmentosum - UpToDate
网页2024年1月8日 · Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder caused by defective nucleotide excision repair (NER), most notably of ultraviolet (UV)-induced deoxyribonucleic acid (DNA) helix-distorting lesions. Most individuals with XP experience a very high rate of skin cancer beginning …
Xeroderma pigmentosum
网页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.
着色性干皮病 - UpToDate
网页着色性干皮病 (xeroderma pigmentosum, XP)是一种罕见的常染色体隐性遗传疾病，由核苷酸切除修复 (nucleotide excision repair, NER)缺陷引起，涉及显著的紫外线 (ultraviolet, UV)诱发性DNA螺旋扭曲损伤。. 大多数XP患者早年发生皮肤癌的风险很高。. 其他特征则与特定基因 …
Xeroderma Pigmentosum: General Aspects and Management
网页2021年11月4日 · Xeroderma Pigmentosum (XP) is a rare genetic syndrome with a defective DNA nucleotide excision repair. It is characterized by (i) an extreme sensitivity to ultraviolet (UV)-induced damages in the skin and eyes; (ii) high risk to develop multiple skin tumours; and (iii) neurologic alterations in the most severe form.