Linked Life Data

11167700

Source:http://linkedlifedata.com/resource/pubmed/id/11167700

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-2-22
pubmed:abstractText
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of pigmented and hypopigmented macules on the extremities and freckles on the face. However, if clinical features are not fully developed in infantile patients, it is difficult to differentiate DSH from xeroderma pigmentosum by clinical features alone. A 2-year-old boy (patient 1), revealed atypical features of DSH with slight susceptibility to sunburn. However, his grandfather (patient 4) who was 67 years old, revealed typical features of DSH, which helped to make an exact diagnosis in patient 1. For patient 2, a 5-year-old boy, and patient 3, a 3-year-old girl, it was more difficult to make a diagnosis because there were no family members with DSH features. DNA repair ability was tested for all four cases by means of unscheduled DNA synthesis and colony formation of skin fibroblasts after ultraviolet light irradiation, which resulted in an accurate diagnosis of DSH. We propose that these tests be performed to make a diagnosis of DSH in the case of poor or atypical clinical symptoms.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0007-0963
pubmed:author
pubmed:issnType
Print
pubmed:volume
144
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
162-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Useful applications of DNA repair tests for differential diagnosis of atypical dyschromatosis symmetrica hereditaria from xeroderma pigmentosum.
pubmed:affiliation
Department of Dermatology, Graduate School of Medicine, Kyoto University, Shogoin, Kyoto, 606-8507, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't