Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax

Détails

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ID Serval
serval:BIB_C71E88C24C21
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
UNIL/CHUV
Titre
Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax
Périodique
Annals of Thoracic Surgery
Auteur⸱e⸱s
Pittet  O., Christodoulou  M., Staneczek  O., Ris  H. B.
ISSN
1552-6259 (Electronic)
Statut éditorial
Publié
Date de publication
09/2006
Volume
82
Numéro
3
Pages
1123-5
Notes
Journal Article --- Old url value: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16928562 --- Old month value: Sep
Résumé
Birt-Hogg-Dube syndrome refers to a dermatologic syndrome, consisting of small papular skins lesion distributed on the scalp, forehead, face and neck, which is autosomal dominantly inherited. Subsequently patients may develop concomitant renal and thoracic pathology. We report the case of a patient with Birt-Hogg-Dube syndrome diagnosed after spontaneous pneumothorax.
Mots-clé
Adult Chromosome Disorders/complications/*diagnosis/genetics Chromosomes, Human, Pair 17/genetics Cysts/complications/*genetics Female Genes, Dominant Humans Lung Diseases/complications/*genetics Pneumothorax/*etiology/surgery Proteins/genetics Proto-Oncogene Proteins/genetics Rupture, Spontaneous Skin Diseases, Papulosquamous/*genetics Syndrome Tumor Suppressor Proteins/genetics
OAI-PMH
oai:serval.unil.ch:BIB_C71E88C24C21
DOI
10.1016/j.athoracsur.2005.11.042
Pubmed
16928562
Web of science
000239996300067
Création de la notice
29/01/2008 13:00
Dernière modification de la notice
20/08/2019 15:42
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