Birt-Hogg-Dube Syndrome

Common Name(s)

Birt-Hogg-Dube Syndrome, Birt-Hogg-Dube

Birt-Hogg-Dube syndrome is a rare complex disorder that affects the skin and lungs and increases the risk of certain types of tumors. The condition is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. Affected individuals are also predisposed to developing benign cysts in the lungs, pneumothorax, and cancerous or noncancerous tumors of the kidneys. Birt Hogg Dube syndrome is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Birt-Hogg-Dube Syndrome" for support, advocacy or research.

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Birt-Hogg-Dube Family Alliance

The Birt-Hogg-Dube (BHD) Family Alliance was formed as a source of information and contacts for those who are affected by or interested in BHD.

Last Updated: 7 Mar 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Birt-Hogg-Dube Syndrome" for support, advocacy or research.

Logo
Birt-Hogg-Dube Family Alliance

The Birt-Hogg-Dube (BHD) Family Alliance was formed as a source of information and contacts for those who are affected by or interested in BHD.

http://www.bhdsyndrome.org

Last Updated: 7 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Birt-Hogg-Dube Syndrome" returned 37 free, full-text research articles on human participants. First 3 results:

Birt-Hogg-Dubé syndrome.
 

Author(s): André Lencastre, Pedro Ponte, Margarida Apetato, Luis Nunes, Sara Lestre

Journal: An Bras Dermatol. ;88(6 Suppl 1):203-5.

 

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. ...

Last Updated: 18 Dec 2013

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Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome.
 

Author(s): Makiko Kunogi Okura, Toshifumi Yae, Osamu Nagashima, Shu Hirai, Toshio Kumasaka, Akihiko Iwase

Journal: Intern. Med.. 2013 ;52(21):2453-5.

 

Spontaneous pneumothorax in the elderly commonly occurs due to underlying pulmonary diseases, such as chronic obstructive pulmonary disease, interstitial lung disease, lung cancer, etc. A 73-year-old woman developed pneumothorax for the first time that was a clinical clue to a diagnosis ...

Last Updated: 5 Nov 2013

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Birt-Hogg-Dubé syndrome.
 

Author(s): Maria F Czyzyk-Krzeska, Francis X McCormack

Journal: Fam. Cancer. 2013 Sep;12(3):355-6.

 

Last Updated: 8 Oct 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Birt-Hogg-Dube Syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Birt-Hogg-Dube syndrome: clinicopathological features of the lung.
 

Author(s): Mitsuko Furuya, Yukio Nakatani

Journal: J. Clin. Pathol.. 2013 Mar;66(3):178-86.

 

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by ...

Last Updated: 25 Feb 2013

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

Author(s): 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.. 2008 Jun;45(6):321-31.

 

Birt-Hogg-Dubé syndrome (BHDS) (MIM 135150) is an autosomal dominant predisposition to the development of follicular hamartomas (fibrofolliculomas), lung cysts, spontaneous pneumothorax, and kidney neoplasms. Germline mutations in BHD are associated with the susceptibility for BHDS. ...

Last Updated: 3 Jun 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
 

Status: Recruiting

Condition Summary: Kidney Neoplasms; Kidney Cancer; Pneumothorax; FLCN Protien, Human

 

Last Updated: 18 Oct 2014

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