Birt-Hogg-Dube syndrome

Common Name(s)

Birt-Hogg-Dube syndrome, Birt Hogg Dube, Hornstein-Knickenberg syndrome

Birt-Hogg-Dubé Syndrome (BHD), also known as Hornstein-Knickenberg syndrome, is a rare genetic disorder that affects the skin, lungs, and kidneys. Symptoms of BHD can be different between affected people, even within the same family, and typically present when an affected person is in their 20s or 30s. The symptoms may include non-cancerous (benign) skin growths (tumors) on the face, neck, ears, or chest. BHD can also cause too much air to be trapped in the chest (pneumothorax), which can cause a collapsed lung. Some people may also develop cancerous or non-cancerous tumors in the kidney.

BHD is caused by a mutation (change) in the FLCN gene and is inherited in an autosomal dominant manner. This means that a person only needs a mutation in one of their two FLCN gene copies to cause BHD. Most of the time, an affected person inherits the mutation from a parent.

The diagnosis is suspected in people who develop the skin tumors or have repeated lung collapses. Diagnosis of BHD can only be confirmed by genetic testing of the FLCN gene. Although BHD does not have a cure, most cases can be managed and are not life threatening. Skin lesions can be removed or treated by skin doctors (dermatologists). Other symptoms, such as kidney tumors and pneumothoraces, should be screened for regularly in affected individuals. If you have been diagnosed with BHD, talk with your doctor about current treatment recommendations. Support groups are a great resource for support and additional information.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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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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General Support Organizations

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

Pulmonary Neoplasms in Patients with Birt-Hogg-Dubé Syndrome: Histopathological Features and Genetic and Somatic Events.
 

Author(s): Mitsuko Furuya, Reiko Tanaka, Koji Okudela, Satoko Nakamura, Hiromu Yoshioka, Toyonori Tsuzuki, Ryo Shibuya, Kazuhiro Yatera, Hiroki Shirasaki, Yoshiko Sudo, Naoko Kimura, Kazuaki Yamada, Shugo Uematsu, Toshiaki Kunimura, Ikuma Kato, Yukio Nakatani

Journal:

 

Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder caused by genetic mutations in the folliculin (FLCN) gene. Individuals with BHD have multiple pulmonary cysts and are at a high risk for developing renal cell carcinomas (RCCs). Currently, little information is available about ...

Last Updated: 15 Mar 2016

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Birt-Hogg-Dubé syndrome: a large single family cohort.
 

Author(s): Kate Skolnik, Willis H Tsai, Kimberly Dornan, Renée Perrier, Paul W Burrowes, Warren J Davidson

Journal:

 

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition characterized by dermatologic lesions, pulmonary manifestations, and renal tumors. The syndrome arises from germline mutations in the folliculin (FLCN) gene. We present findings from the single largest family BHD cohort ...

Last Updated: 1 Mar 2016

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Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.
 

Author(s): Ernst Näf, Dominik Laubscher, Helmut Hopfer, Markus Streit, Gabor Matyas

Journal: Fam. Cancer. 2016 Jan;15(1):127-32.

 

Germline mutation of the FLCN gene causes Birt-Hogg-Dubé syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT ...

Last Updated: 4 Jan 2016

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

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
 

Author(s): Laura S Schmidt, W Marston Linehan

Journal: Nat Rev Urol. 2015 Oct;12(10):558-69.

 

Birt-Hogg-Dubé (BHD) syndrome is an inherited renal cancer syndrome in which affected individuals are at risk of developing benign cutaneous fibrofolliculomas, bilateral pulmonary cysts and spontaneous pneumothoraces, and kidney tumours. Bilateral multifocal renal tumours that develop ...

Last Updated: 6 Oct 2015

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Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects.
 

Author(s): N Kuroda, M Furuya, Y Nagashima, H Gotohda, F Kawakami, S Moritani, S Ota, M Hora, M Michal, O Hes, Y Nakatani

Journal: Pol J Pathol. 2014 Jun;65(2):93-9.

 

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder characterized by clinical features of skin lesions, pulmonary lesions and renal tumor. The gene responsible for this syndrome is located on chromosome 17p11.2 and designated as FLCN. In this article, we review ...

Last Updated: 14 Aug 2014

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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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Symptoms, Diagnosis, and Treatment

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There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer
 

Status: Recruiting

Condition Summary: Renal Cancer; Chromophobe Renal Cell Carcinoma; Birt-Hogg-Dube Syndrome

 

Last Updated: 18 Nov 2016

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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 Nov 2016

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Prevalence of Spontaneous Pneumothorax in BHD
 

Status: Recruiting

Condition Summary: Spontaneous Pneumothorax

 

Last Updated: 24 Oct 2016

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