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Increased cellular sensitivity to UV light

MedGen UID:
346648
Concept ID:
C1857707
Finding
HPO: HP:0003224

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased cellular sensitivity to UV light

Conditions with this feature

Xeroderma pigmentosum group B
MedGen UID:
78643
Concept ID:
C0268136
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). 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).
Cockayne syndrome type 2
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Cockayne syndrome type 1
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
UV-sensitive syndrome 1
MedGen UID:
764087
Concept ID:
C3551173
Disease or Syndrome
UV-sensitive syndrome-1 (UVSS1) is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5q12, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.
UV-sensitive syndrome 2
MedGen UID:
766212
Concept ID:
C3553298
Disease or Syndrome
UV-sensitive syndrome-2 (UVSS2) is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Nardo et al., 2009). See also Cockayne syndrome type A (CSA; 216400), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities. For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630).
UV-sensitive syndrome 3
MedGen UID:
766242
Concept ID:
C3553328
Disease or Syndrome
UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630).

Professional guidelines

PubMed

Maier K, He Y, Wölfle U, Esser PR, Brummer T, Schempp C, Bruckner-Tuderman L, Has C
Hum Mol Genet 2016 Dec 15;25(24):5339-5352. doi: 10.1093/hmg/ddw350. PMID: 27798104
Van Aelst B, Devloo R, Zachée P, t'Kindt R, Sandra K, Vandekerckhove P, Compernolle V, Feys HB
J Biol Chem 2016 Nov 18;291(47):24364-24376. Epub 2016 Sep 29 doi: 10.1074/jbc.M116.735126. PMID: 27687726Free PMC Article
Löber G, Kittler L, Beensen V, Schaarschmidt H, Knopf B
Biomed Biochim Acta 1986;45(3):343-51. PMID: 3707553

Recent clinical studies

Etiology

Fania L, Mazzanti C, Campione E, Candi E, Abeni D, Dellambra E
Int J Mol Sci 2019 Nov 26;20(23) doi: 10.3390/ijms20235946. PMID: 31779194Free PMC Article
Del Bino S, Bernerd F
Br J Dermatol 2013 Oct;169 Suppl 3:33-40. doi: 10.1111/bjd.12529. PMID: 24098899
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Volkmer B, Greinert R
Prog Biophys Mol Biol 2011 Dec;107(3):386-8. Epub 2011 Sep 3 doi: 10.1016/j.pbiomolbio.2011.08.011. PMID: 21907231
Hill HZ, Li W, Xin P, Mitchell DL
Pigment Cell Res 1997 Jun;10(3):158-61. doi: 10.1111/j.1600-0749.1997.tb00478.x. PMID: 9266603

Diagnosis

Ichikawa S, Okazaki M, Okamura M, Nishimura N, Miyake H
J Photochem Photobiol B 2022 Jun;231:112448. Epub 2022 Apr 26 doi: 10.1016/j.jphotobiol.2022.112448. PMID: 35490545
Fania L, Mazzanti C, Campione E, Candi E, Abeni D, Dellambra E
Int J Mol Sci 2019 Nov 26;20(23) doi: 10.3390/ijms20235946. PMID: 31779194Free PMC Article
Ivanov IV, Mappes T, Schaupp P, Lappe C, Wahl S
J Biophotonics 2018 Jul;11(7):e201700377. Epub 2018 Apr 24 doi: 10.1002/jbio.201700377. PMID: 29603665
Volkmer B, Greinert R
Prog Biophys Mol Biol 2011 Dec;107(3):386-8. Epub 2011 Sep 3 doi: 10.1016/j.pbiomolbio.2011.08.011. PMID: 21907231
Bongiovanni L, Müller EJ, Della Salda L
Exp Dermatol 2011 Jun;20(6):457-63. doi: 10.1111/j.1600-0625.2011.01273.x. PMID: 21585553

Therapy

Li J, Pu K
Acc Chem Res 2020 Apr 21;53(4):752-762. Epub 2020 Feb 6 doi: 10.1021/acs.accounts.9b00569. PMID: 32027481
Fania L, Mazzanti C, Campione E, Candi E, Abeni D, Dellambra E
Int J Mol Sci 2019 Nov 26;20(23) doi: 10.3390/ijms20235946. PMID: 31779194Free PMC Article
Ivanov IV, Mappes T, Schaupp P, Lappe C, Wahl S
J Biophotonics 2018 Jul;11(7):e201700377. Epub 2018 Apr 24 doi: 10.1002/jbio.201700377. PMID: 29603665
Yang Y, Mu J, Xing B
Wiley Interdiscip Rev Nanomed Nanobiotechnol 2017 Mar;9(2) Epub 2016 Apr 20 doi: 10.1002/wnan.1408. PMID: 27094696
Volkmer B, Greinert R
Prog Biophys Mol Biol 2011 Dec;107(3):386-8. Epub 2011 Sep 3 doi: 10.1016/j.pbiomolbio.2011.08.011. PMID: 21907231

Prognosis

Yeom M, Hong JK, Shin JH, Lee Y, Guengerich FP, Choi JY
Int J Mol Sci 2023 Mar 8;24(6) doi: 10.3390/ijms24065198. PMID: 36982269Free PMC Article
Morais M, Machado V, Dias F, Figueiredo P, Palmeira C, Martins G, Fernandes R, Malheiro AR, Mikkonen KS, Teixeira AL, Medeiros R
Int J Nanomedicine 2022;17:4321-4337. Epub 2022 Sep 16 doi: 10.2147/IJN.S364862. PMID: 36147546Free PMC Article
Jaiaue P, Piluk J, Sawattrakool K, Thammakes J, Malasuk C, Thitiprasert S, Thongchul N, Siwamogsatham S
Appl Environ Microbiol 2022 Apr 12;88(7):e0214821. Epub 2022 Mar 15 doi: 10.1128/aem.02148-21. PMID: 35289640Free PMC Article
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Tafur J, Van Wijk EP, Van Wijk R, Mills PJ
Photomed Laser Surg 2010 Feb;28(1):23-30. doi: 10.1089/pho.2008.2373. PMID: 19754267Free PMC Article

Clinical prediction guides

Ichikawa S, Okazaki M, Okamura M, Nishimura N, Miyake H
J Photochem Photobiol B 2022 Jun;231:112448. Epub 2022 Apr 26 doi: 10.1016/j.jphotobiol.2022.112448. PMID: 35490545
Jaiaue P, Piluk J, Sawattrakool K, Thammakes J, Malasuk C, Thitiprasert S, Thongchul N, Siwamogsatham S
Appl Environ Microbiol 2022 Apr 12;88(7):e0214821. Epub 2022 Mar 15 doi: 10.1128/aem.02148-21. PMID: 35289640Free PMC Article
Boucher D, Kariawasam R, Burgess J, Gimenez A, Ocampo TE, Ferguson B, Naqi A, Walker GJ, Bolderson E, Gamsjaeger R, O'Byrne KJ, Cubeddu L, Khanna KK, Richard DJ
Sci Rep 2021 Oct 12;11(1):20256. doi: 10.1038/s41598-021-99355-0. PMID: 34642383Free PMC Article
Tafur J, Van Wijk EP, Van Wijk R, Mills PJ
Photomed Laser Surg 2010 Feb;28(1):23-30. doi: 10.1089/pho.2008.2373. PMID: 19754267Free PMC Article
Stojic L, Brun R, Jiricny J
DNA Repair (Amst) 2004 Aug-Sep;3(8-9):1091-101. doi: 10.1016/j.dnarep.2004.06.006. PMID: 15279797

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