The discovery of a Persian family with a form of Birt-Hogg-Dubé syndrome lacking the typical cutaneous stigmata of the syndrome.
Clin Imaging
; 37(1): 111-5, 2013.
Article
em En
| MEDLINE
| ID: mdl-23206616
ABSTRACT
PURPOSE:
This study was performed in 24 members of a family with spontaneous pneumothorax to test clinical suspicion of Birt-Hogg-Dubé syndrome (BHDS).METHODS:
Computed tomography scan was performed for confirmation of pneumothorax, while genetic tests were done using real-time quantitative polymerase chain reaction.RESULTS:
Genetic studies showed a deletion of exon 1 in the FLCN gene in the index case as well as nine other individuals, including two with clinical phenotypes of pneumothorax and seven who are symptom-free to date.CONCLUSIONS:
Proper imaging and taking accurate family history could be the keys to test clinical suspicion in some syndromes, including BHDS.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Linhagem
/
Dermatopatias
/
Síndrome de Birt-Hogg-Dubé
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Clin Imaging
Assunto da revista:
DIAGNOSTICO POR IMAGEM
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Irã