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-Dubé Foundation

1. To advance and promote research into medical and molecular genetics in order to better understand, diagnose, prevent, cure and relieve Birt-Hogg-Dubé syndrome and freely disseminate the results of such research to the public. 2. To advance education of the public in medical and molecular genetics.

Last Updated: 15 Apr 2015

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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-Dubé Foundation

1. To advance and promote research into medical and molecular genetics in order to better understand, diagnose, prevent, cure and relieve Birt-Hogg-Dubé syndrome and freely disseminate the results of such research to the public. 2. To advance education of the public in medical and molecular genetics.

http://www.bhdsyndrome.org/

Last Updated: 15 Apr 2015

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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 44 free, full-text research articles on human participants. First 3 results:

Birt-Hogg-Dubé syndrome with clear cell renal cell carcinoma in a Chinese family.
 

Author(s): Zhichun Lin, Kenan Gong, Bo Pang, Changqing Zeng, Dake Zhang

Journal: Intern. Med.. 2014 ;53(24):2825-8.

 

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis that presents as a clinical triad including follicular hamartomas, renal neoplasms and lung cysts associated with an increased risk of pneumothorax. FLCN gene defects have been identified as being responsible ...

Last Updated: 16 Dec 2014

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Successful treatment of facial papules with electrodessication in a patient with Birt-Hogg-Dubé syndrome.
 

Author(s): Sara E Pritchard, Rod Mahmoudizad, Palak K Parekh

Journal:

 

We report a case of a 51-year-old Hispanic female who presented with a several year history of multiple flesh colored papules of cosmetic concern on the nose and medial cheeks. Biopsies revealed fibrofolliculoma and trichodiscoma. The patient was referred for genetic testing and was ...

Last Updated: 22 Jul 2014

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Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.
 

Author(s): Paul C Johannesma, Ben E E M van den Borne, Johannes J P Gille, Ad F Nagelkerke, JanHein T M van Waesberghe, Marinus A Paul, R Jeroen A van Moorselaar, Fred H Menko, Pieter E Postmus

Journal:

 

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). ...

Last Updated: 11 Jul 2014

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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 3 free, full-text review articles on human participants. First 3 results:

Pulmonary manifestations of Birt-Hogg-Dubé syndrome.
 

Author(s): Nishant Gupta, Kuniaki Seyama, Francis X McCormack

Journal: Fam. Cancer. 2013 Sep;12(3):387-96.

 

Birt-Hogg-Dubé syndrome (BHD) is a rare, autosomal dominant disorder characterized by the development of hair follicle tumors, renal tumors and pulmonary cysts. BHD is caused by heterozygous, predominantly truncating mutations in the folliculin (FLCN) gene located on chromosome 17, ...

Last Updated: 8 Oct 2013

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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: 22 Apr 2015

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