Congenital Abnormality
xeroderma pigmentosum
xe·ro·der·ma pig·men·to·sum [ pig-muhn-toh-suhm ]
Subclass of:
DNA Repair-Deficiency Disorders;
Photosensitivity Disorders;
Precancerous Conditions;
Pigmentation Disorders;
Skin Diseases, Genetic;
Skin Abnormalities
Definitions related to xeroderma pigmentosum:
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A genetic condition marked by an extreme sensitivity to ultraviolet radiation, including sunlight. People with xeroderma pigmentosum are not able to repair skin damage from the sun and other sources of ultraviolet radiation, and have a very high risk of skin cancer.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
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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.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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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. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.NCI ThesaurusU.S. National Cancer Institute, 2021
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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.CRISP ThesaurusNational Institutes of Health, 2006
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Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).GeneReviewsUniversity of Washington, 2021
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Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin.WebMD, 2019
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Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to ultraviolet radiation from the sun and other sources. Symptoms begin in early childhood. People with XP can develop bad sunburns, blistering, and freckling in response to sunlight. The eyes may develop light sensitivity, corneal clouding, and...National Center for Advancing Translational Sciences
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Xeroderma pigmentosum, rare, recessively inherited skin condition in which resistance to sunlight and other radiation beyond the violet end of the spectrum is lacking. On exposure to such radiation the skin erupts into numerous pigmented spots, resembling freckles, which tend to develop into...Encyclopedia Britannica, Inc., 2020
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