Excision repair defect in Rothmund Thomson syndrome
Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. The main clinical feature is poikiloderma appearing in early childhood associated with skeletal abnormalities. Early occurrence of malignancies is another relevant feature. Here we describe the clinical features of 2 patients wit...
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| Veröffentlicht in: | Acta dermato-venereologica 1999-03, Vol.79 (2), p.150-152 |
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| container_title | Acta dermato-venereologica |
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| creator | Vasseur, F Delaporte, E Zabot, M T Sturque, M N Barrut, D Savary, J B Thomas, L Thomas, P |
| description | Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. The main clinical feature is poikiloderma appearing in early childhood associated with skeletal abnormalities. Early occurrence of malignancies is another relevant feature. Here we describe the clinical features of 2 patients with Rothmund Thomson syndrome who were investigated for the in vitro DNA repair capacities of blood cells following UVC radiation exposure. DNA excision repair, assessed with unscheduled DNA synthesis following UVC exposure, was decreased in both patients. Such a defect might explain the patients' sensitivity to sunlight and the relatively high risk of cancer associated with this syndrome. |
| doi_str_mv | 10.1080/000155599750011417 |
| format | Article |
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The main clinical feature is poikiloderma appearing in early childhood associated with skeletal abnormalities. Early occurrence of malignancies is another relevant feature. Here we describe the clinical features of 2 patients with Rothmund Thomson syndrome who were investigated for the in vitro DNA repair capacities of blood cells following UVC radiation exposure. DNA excision repair, assessed with unscheduled DNA synthesis following UVC exposure, was decreased in both patients. Such a defect might explain the patients' sensitivity to sunlight and the relatively high risk of cancer associated with this syndrome.</description><identifier>ISSN: 0001-5555</identifier><identifier>DOI: 10.1080/000155599750011417</identifier><identifier>PMID: 10228638</identifier><language>eng</language><publisher>Sweden</publisher><subject>Adolescent ; DNA Repair ; Female ; Humans ; Male ; Rothmund-Thomson Syndrome - therapy ; Ultraviolet Therapy</subject><ispartof>Acta dermato-venereologica, 1999-03, Vol.79 (2), p.150-152</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c343t-e113f215e8c69789394c22e3b2327333bf0d161305522b65457525111cf71aa13</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,778,782,27911,27912</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10228638$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vasseur, F</creatorcontrib><creatorcontrib>Delaporte, E</creatorcontrib><creatorcontrib>Zabot, M T</creatorcontrib><creatorcontrib>Sturque, M N</creatorcontrib><creatorcontrib>Barrut, D</creatorcontrib><creatorcontrib>Savary, J B</creatorcontrib><creatorcontrib>Thomas, L</creatorcontrib><creatorcontrib>Thomas, P</creatorcontrib><title>Excision repair defect in Rothmund Thomson syndrome</title><title>Acta dermato-venereologica</title><addtitle>Acta Derm Venereol</addtitle><description>Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. The main clinical feature is poikiloderma appearing in early childhood associated with skeletal abnormalities. Early occurrence of malignancies is another relevant feature. Here we describe the clinical features of 2 patients with Rothmund Thomson syndrome who were investigated for the in vitro DNA repair capacities of blood cells following UVC radiation exposure. DNA excision repair, assessed with unscheduled DNA synthesis following UVC exposure, was decreased in both patients. Such a defect might explain the patients' sensitivity to sunlight and the relatively high risk of cancer associated with this syndrome.</description><subject>Adolescent</subject><subject>DNA Repair</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>Rothmund-Thomson Syndrome - therapy</subject><subject>Ultraviolet Therapy</subject><issn>0001-5555</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplkEFLw0AQhfeg2Fr9Ax4kJ2_RnZlssjlKqVUoCFLPIdlMaKTJ1t0E7L93S3oQPM3M472P4QlxB_IRpJZPUkpQSuV5psIGCWQXYn4S46Cqmbj2_iucqEBfiRlIRJ2Sngta_ZjWt7aPHB_K1kU1N2yGqO2jDzvsurGvo-3Odj44_LGvne34Rlw25d7z7XkuxOfLart8jTfv67fl8yY2lNAQMwA1CIq1SfNM55QnBpGpQsKMiKpG1pACSaUQq1QlKlPhPwDTZFCWQAvxMHEPzn6P7Ieia73h_b7s2Y6-CFRCQB2MOBmNs947boqDa7vSHQuQxame4n89IXR_po9Vx_WfyNQN_QL3ql7o</recordid><startdate>19990301</startdate><enddate>19990301</enddate><creator>Vasseur, F</creator><creator>Delaporte, E</creator><creator>Zabot, M T</creator><creator>Sturque, M N</creator><creator>Barrut, D</creator><creator>Savary, J B</creator><creator>Thomas, L</creator><creator>Thomas, P</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19990301</creationdate><title>Excision repair defect in Rothmund Thomson syndrome</title><author>Vasseur, F ; Delaporte, E ; Zabot, M T ; Sturque, M N ; Barrut, D ; Savary, J B ; Thomas, L ; Thomas, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c343t-e113f215e8c69789394c22e3b2327333bf0d161305522b65457525111cf71aa13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adolescent</topic><topic>DNA Repair</topic><topic>Female</topic><topic>Humans</topic><topic>Male</topic><topic>Rothmund-Thomson Syndrome - therapy</topic><topic>Ultraviolet Therapy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vasseur, F</creatorcontrib><creatorcontrib>Delaporte, E</creatorcontrib><creatorcontrib>Zabot, M T</creatorcontrib><creatorcontrib>Sturque, M N</creatorcontrib><creatorcontrib>Barrut, D</creatorcontrib><creatorcontrib>Savary, J B</creatorcontrib><creatorcontrib>Thomas, L</creatorcontrib><creatorcontrib>Thomas, P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Acta dermato-venereologica</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vasseur, F</au><au>Delaporte, E</au><au>Zabot, M T</au><au>Sturque, M N</au><au>Barrut, D</au><au>Savary, J B</au><au>Thomas, L</au><au>Thomas, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Excision repair defect in Rothmund Thomson syndrome</atitle><jtitle>Acta dermato-venereologica</jtitle><addtitle>Acta Derm Venereol</addtitle><date>1999-03-01</date><risdate>1999</risdate><volume>79</volume><issue>2</issue><spage>150</spage><epage>152</epage><pages>150-152</pages><issn>0001-5555</issn><abstract>Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. 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| fulltext | fulltext |
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| ispartof | Acta dermato-venereologica, 1999-03, Vol.79 (2), p.150-152 |
| issn | 0001-5555 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69732128 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adolescent DNA Repair Female Humans Male Rothmund-Thomson Syndrome - therapy Ultraviolet Therapy |
| title | Excision repair defect in Rothmund Thomson syndrome |
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