"Xeroderma Pigmentosum" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D014983
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| MeSH Number(s) |
C04.834.867 C16.131.831.936 C16.320.850.970 C17.800.600.925 C17.800.621.936 C17.800.804.936 C17.800.827.970 C18.452.284.975
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Xeroderma Pigmentosum".
Below are MeSH descriptors whose meaning is more specific than "Xeroderma Pigmentosum".
This graph shows the total number of publications written about "Xeroderma Pigmentosum" by people in this website by year, and whether "Xeroderma Pigmentosum" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2019 | 0 | 1 | 1 |
| 2024 | 1 | 0 | 1 |
| 2025 | 1 | 0 | 1 |
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Below are the most recent publications written about "Xeroderma Pigmentosum" by people in Profiles.
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Do N, Smith RJ, Choi S, Queenan M, Larijani M. Metastatic Squamous Cell Carcinoma Treated With?Pembrolizumab in a Patient With Xeroderma Pigmentosum. Pediatr Dermatol. 2025 Jul-Aug; 42(4):831-834.
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Hozhabrpour A, Mojbafan M, Palizban F, Vahidnezhad F, Talebi S, Amani M, Garshasbi M, Naghavi A, Khalesi R, Mansouri P, Sotoudeh S, Mahmoudi H, Varghaei A, Daneshpazhooh M, Karimi F, Zeinali S, Kalamati E, Uitto J, Youssefian L, Vahidnezhad H. DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity. DNA Repair (Amst). 2024 04; 136:103633.
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Jang S, Kumar N, Beckwitt EC, Kong M, Fouquerel E, Rapic-Otrin V, Prasad R, Watkins SC, Khuu C, Majumdar C, David SS, Wilson SH, Bruchez MP, Opresko PL, Van Houten B. Damage sensor role of UV-DDB during base excision repair. Nat Struct Mol Biol. 2019 08; 26(8):695-703.
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Gaspari AA, Fleisher TA, Kraemer KH. Impaired interferon production and natural killer cell activation in patients with the skin cancer-prone disorder, xeroderma pigmentosum. J Clin Invest. 1993 Sep; 92(3):1135-42.