Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax.
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.
Pittet
Olivier
O
Department of Thoracic Surgery, Centre Hospitalier Universitaire Vaudois, Switzerland. opittet@scanvirus.ch
Christodoulou
Michel
M
Staneczek
Olivier
O
Ris
Hans-Beat
HB
D000328:Adult; D025063:Chromosome Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003560:Cysts / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008171:Lung Diseases / Q000150:complications / Q000235:genetics*; D011030:Pneumothorax / Q000209:etiology* / Q000601:surgery; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012422:Rupture, Spontaneous; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics
C476078:FLCN protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins