| Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair. | |
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MedLine Citation:
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PMID: 8763445 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Recently, we established a new category of photosensitive disorder termed UVs syndrome. Cells from patients with UVs syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVs syndrome is distinct from Cockayne syndrome (CS) or XP including XP variant (XP-V), as determined by studies of genetic factors using cell fusion, microinjection, and postreplication repair assays. In this study, we identified three Japanese patients with UVs syndrome: an 11-year-old girl, a 17-year-old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of these patients were slight erythema and dryness, a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient 3 showed a lowered minimal erythema dose between 280 and 300 nm. The patients' fibroblasts showed similar characteristics to those in CS, such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVs syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of XP but showing the cellular characteristics of CS. |
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Authors:
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T Itoh; M Yamaizumi; M Ichihashi; M Hiro-Oka; T Matsui; M Matsuno; T Ono |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The British journal of dermatology Volume: 134 ISSN: 0007-0963 ISO Abbreviation: Br. J. Dermatol. Publication Date: 1996 Jun |
Date Detail:
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Created Date: 1996-10-10 Completed Date: 1996-10-10 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0004041 Medline TA: Br J Dermatol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 1147-50 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Kumamoto University School of Medicine, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child DNA Repair* Facies Female Humans Male Photosensitivity Disorders / etiology, genetics* Syndrome Ultraviolet Rays / adverse effects* |
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