Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax
| Data(s) |
01/09/2006
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|---|---|
| Resumo |
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. |
| Identificador |
http://serval.unil.ch/?id=serval:BIB_C71E88C24C21 doi:10.1016/j.athoracsur.2005.11.042 pmid:16928562 isbn:1552-6259 (Electronic) isiid:000239996300067 |
| Fonte |
Annals of Thoracic Surgery, vol. 82, no. 3, pp. 1123-5 |
| Palavras-Chave | #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 |
| Tipo |
info:eu-repo/semantics/article article |
