| A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. | |
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MedLine Citation:
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PMID: 8447670 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Rothmund-Thomson syndrome is an autosomal recessively inherited disease with multiple skin disorders, and little has been known about the cause of the clinical features. We cultured the cells from a patient with Rothmund-Thomson syndrome and examined the ultraviolet repair characteristics. OBSERVATIONS: A 5-year-old boy with Rothmund-Thomson syndrome is presented. He has had reticular pigmentation and hypopigmentation on his cheeks, upper aspect of the trunk, palms, and soles since 6 months of age. Cells originating from the patient had reduced unscheduled DNA synthesis, 37% of normal, after exposure to ultraviolet C (predominantly at 254 nm), and they were slightly more sensitive to ultraviolet C than were normal cells in cell ultraviolet survival. CONCLUSION: Such repair deficiency might account for the mild sun sensitivity in early childhood. Heterogeneity in the repair mechanism as well as in clinical features in this syndrome was suggested. |
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Authors:
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A Shinya; C Nishigori; S Moriwaki; H Takebe; M Kubota; A Ogino; S Imamura |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Archives of dermatology Volume: 129 ISSN: 0003-987X ISO Abbreviation: Arch Dermatol Publication Date: 1993 Mar |
Date Detail:
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Created Date: 1993-04-02 Completed Date: 1993-04-02 Revised Date: 2010-03-24 |
Medline Journal Info:
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Nlm Unique ID: 0372433 Medline TA: Arch Dermatol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 332-6 Citation Subset: AIM; IM |
Affiliation:
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Department of Dermatology, Faculty of Medicine, Kyoto University, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cells, Cultured Child, Preschool DNA / biosynthesis DNA Repair* / radiation effects Humans Male Rothmund-Thomson Syndrome / genetics* Ultraviolet Rays |
| Chemical | |
Reg. No./Substance:
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9007-49-2/DNA |
| Comments/Corrections | |
Comment In:
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Arch Dermatol. 1993 Mar;129(3):348-50
[PMID:
8447674
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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