Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family.
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.
So
Shun-Yang
SY
Department of Medicine, University of Hong Kong, Hong Kong, China. syso@hkucc.hku.hk
D001994:Bronchogenic Cyst / Q000150:complications* / Q000208:ethnology; D002681:China; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications* / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011030:Pneumothorax / Q000175:diagnosis* / Q000208:ethnology / Q000209:etiology*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012878:Skin Neoplasms / Q000150:complications* / Q000208:ethnology; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins