Literature DB >> 19659657

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

Shun-Yang So1.   

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.

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Year:  2009        PMID： 19659657     DOI： 10.1111/j.1440-1843.2009.01558.x

Source DB:  PubMed          Journal:  Respirology        ISSN： 1323-7799            Impact factor:   6.424


  5 in total

Review 1.  Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.

Authors:  Wangji Zhou; Keqiang Liu; Kai-Feng Xu; Yaping Liu; Xinlun Tian
Journal:  Int J Gen Med       Date:  2022-05-23

Review 2.  Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families.

Authors:  Xiaowen Hu; Guofeng Zhang; Xianmeng Chen; Kai-Feng Xu
Journal:  Orphanet J Rare Dis       Date:  2021-05-17       Impact factor: 4.303

Review 3.  Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.

Authors:  Marianne Geilswijk; Elisabeth Bendstrup; Mia Gebauer Madsen; Mette Sommerlund; Anne-Bine Skytte
Journal:  Mol Genet Genomic Med       Date:  2018-02-13       Impact factor: 2.183

4.  The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.

Authors:  Ting Guo; Qinxue Shen; Ruoyun Ouyang; Min Song; Dandan Zong; Zhihui Shi; Yingjiao Long; Ping Chen; Hong Peng
Journal:  Ann Transl Med       Date:  2020-11

5.  Two Japanese cases of birt-hogg-dubé syndrome with pulmonary cysts, fibrofolliculomas, and renal cell carcinomas.

Authors:  Yukako Murakami; Mari Wataya-Kaneda; Mari Tanaka; Aya Takahashi; Akira Tsujimura; Koji Inoue; Norio Nonomura; Ichiro Katayama
Journal:  Case Rep Dermatol       Date:  2014-02-07
  5 in total

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