Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-11-5
pubmed:abstractText
A 36-year-old woman presented with lesions on her scalp, face and trunk. Histopathological examination of these lesions demonstrated facial trichoepithelioma, and scalp cylindroma. A solitary nodule on the trunk had features of cylindroma, spiradenoma and trichoepithelioma, a previously unreported occurrence. Based on the clinical picture, the diagnosis of Brooke-Spiegler syndrome was established. Genetic studies confirmed the diagnosis, demonstrating a splice site mutation, designated 1518+2T>C, on the CYLD1 gene of chromosome 16q12-q13.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0004-8380
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
220-2
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Case of the Brooke-Spiegler syndrome.
pubmed:affiliation
St John's Institute of Dermatology, St Thomas' Hospital, London, UK. hoanglydr@yahoo.com
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't