UV-sensitive syndrome
Última actualización 18 Aug 2020
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UV-sensitive syndrome is a condition that is characterised by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.
Descripción
UV-sensitive syndrome is a condition that is characterised by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Ultraviolet sensitive syndrome
UVSS
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Lecturas adicionales y referencias
- UV-sensitive syndrome; MedlinePlus, National Library of Medicine.
- Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. doi: 10.1073/pnas.0404587101. Epub 2004 Oct 14.
- Itoh T, Fujiwara Y, Ono T, Yamaizumi M. UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I. Am J Hum Genet. 1995 Jun;56(6):1267-76.
- Itoh T, Yamaizumi M, Ichihashi M, Hiro-Oka M, Matsui T, Matsuno M, Ono T. Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair. Br J Dermatol. 1996 Jun;134(6):1147-50.
- Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27.
- Spivak G, Itoh T, Matsunaga T, Nikaido O, Hanawalt P, Yamaizumi M. Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers. DNA Repair (Amst). 2002 Aug 6;1(8):629-43. doi: 10.1016/s1568-7864(02)00056-3.
- Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. Nat Genet. 2012 May;44(5):593-7. doi: 10.1038/ng.2228.
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