Literature DB >> 30083407

A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome.

Engin Karaman1, Furkan Ufuk1, Mahmut Demirci1, Hüseyin Gökhan Yavaş1.   

Abstract

Birt-Hogg-Dube (BHD) syndrome is an unusual disorder characterized by the triad of cutaneous lesions, renal tumors and lung cysts. In cases with BHD syndrome, the frequency of recurrent pneumothorax is increased due to presence of multiple lung cysts. It is important to evaluate the BHD syndrome in differential diagnosis of recurrent pneumothorax especially with multiple lung cysts predominating in the lung base. In these patients, the presence of accompanying kidney and other tumors should be investigated. Herein, we report a case of BHD syndrome presenting with recurrent pneumothorax.

Entities:  

Keywords:  Birt-Hogg-Dube syndrome; cystic lung disease; pituitary adenoma; pneumothorax

Year:  2018        PMID: 30083407      PMCID: PMC6077014          DOI: 10.5152/TurkThoracJ.2018.17045

Source DB:  PubMed          Journal:  Turk Thorac J        ISSN: 2148-7197


  6 in total

Review 1.  Pneumothorax.

Authors:  Marc Noppen; Tom De Keukeleire
Journal:  Respiration       Date:  2008-06-26       Impact factor: 3.580

2.  Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome.

Authors:  J Y Chung; F A Ramos-Caro; B Beers; M J Ford; F Flowers
Journal:  Int J Dermatol       Date:  1996-05       Impact factor: 2.736

3.  Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

Authors:  A Maffé; B Toschi; G Circo; D Giachino; S Giglio; A Rizzo; A Carloni; V Poletti; S Tomassetti; C Ginardi; S Ungari; M Genuardi
Journal:  Clin Genet       Date:  2011-04       Impact factor: 4.438

Review 4.  Birt-Hogg-Dubé Syndrome.

Authors:  Nishant Gupta; Bernie Y Sunwoo; Robert M Kotloff
Journal:  Clin Chest Med       Date:  2016-06-25       Impact factor: 2.878

5.  Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.

Authors:  Andrew Burkett; Niamh Coffey; Eva Tomiak; Nha Voduc
Journal:  Respir Med Case Rep       Date:  2016-08-23

Review 6.  BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Authors:  J R Toro; M-H Wei; G M Glenn; M Weinreich; O Toure; C Vocke; M Turner; P Choyke; M J Merino; P A Pinto; S M Steinberg; L S Schmidt; W M Linehan
Journal:  J Med Genet       Date:  2008-01-30       Impact factor: 6.318

  6 in total

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