Linked Life Data

7793762

Source:http://linkedlifedata.com/resource/pubmed/id/7793762

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1995-7-25
pubmed:abstractText
The Buschke-Ollendorff syndrome (BOS) is a rare connective tissue disorder inherited in an autosomal dominant pattern characterized by cutaneous lesions, dermatofibrosis lenticularis disseminata, and osteopoikilosis. We report a new case of this syndrome in a 66 year old man, interesting by its association with a protein C deficiency, another rare genetically transmitted disease. Diagnosis of the BOS is difficult on the mere cutaneous lesions; it is therefore important to systematically practice bone X-rays in the presence of atypical pseudoxanthoma elasticum, disseminated collagenoma or disseminated connective tissue or elastic nevi. The radiologically detectable osteopoikilotic bone lesions, evoking Paget's disease, easily sign the diagnosis. In our case, the association of a protein C deficiency with the BOS may not be fortuitous because both the elastin and protein C genes are localized on chromosome 2q.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0151-9638
pubmed:author
pubmed:issnType
Print
pubmed:volume
121
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
718-20
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
[Buschke-Ollendorff syndrome].
pubmed:affiliation
Service de Dermatologie, Hôpital Saint-Joseph, Paris.
pubmed:publicationType
Journal Article, English Abstract, Case Reports