Spontaneous pneumothorax due to Birt‐Hogg‐Dube syndrome in a Chinese family

Spontaneous pneumothorax due to Birt‐Hogg‐Dube syndrome in a Chinese family

ABSTRACT A Chinese woman presented with a spontaneous pneumothorax and a family history suggestive of the autosomal dominant transmission of pneumothorax. The patient also had skin fibrofolliculomas and folliculin gene deletion, compatible with Birt‐Hogg‐Dube (BHD) syndrome. The importance of BHD sy...

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Veröffentlicht in:Respirology (Carlton, Vic.) Vic.), 2009-07, Vol.14 (5), p.775-776
1. Verfasser: SO, Shun‐Yang
Format: Artikel
Sprache:eng
Schlagworte:
Bronchogenic Cyst - complications
Bronchogenic Cyst - ethnology
China
Female
folliculin
Gene Deletion
Humans
Kidney Neoplasms - complications
Kidney Neoplasms - ethnology
Male
Middle Aged
Pedigree
pneumothorax
Pneumothorax - diagnosis
Pneumothorax - ethnology
Pneumothorax - etiology
Proto-Oncogene Proteins - genetics
pulmonary cyst
Skin Neoplasms - complications
Skin Neoplasms - ethnology
Syndrome
Tumor Suppressor Proteins - genetics
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Zusammenfassung:ABSTRACT A Chinese woman presented with a spontaneous pneumothorax and a family history suggestive of the autosomal dominant transmission of pneumothorax. The patient also had skin fibrofolliculomas and folliculin gene deletion, compatible with Birt‐Hogg‐Dube (BHD) syndrome. The importance of BHD syndrome and other familial spontaneous pneumothoraces is discussed.
ISSN:1323-7799
1440-1843
DOI:10.1111/j.1440-1843.2009.01558.x