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 56 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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Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
 

Author(s): Mitsuko Furuya, Seung-Beom Hong, Reiko Tanaka, Naoto Kuroda, Yoji Nagashima, Kiyotaka Nagahama, Takahito Suyama, Masahiro Yao, Yukio Nakatani

Journal: Cancer Sci.. 2015 Mar;106(3):315-23.

 

Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder associated with a germline mutation of the folliculin gene (FLCN). The affected families have a high risk for developing multiple renal cell carcinomas (RCC). Diagnostic markers that distinguish between FLCN-related RCC and sporadic ...

Last Updated: 24 Mar 2015

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Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
 

Author(s): Patrick R Benusiglio, Sophie Giraud, Sophie Deveaux, Arnaud Méjean, Jean-Michel Correas, Dominique Joly, Marc-Olivier Timsit, Sophie Ferlicot, Virginie Verkarre, Caroline Abadie, Dominique Chauveau, Dominique Leroux, Marie-Françoise Avril, Jean-François Cordier, Stéphane Richard,

Journal:

 

The Birt-Hogg-Dubé syndrome is a rare cancer susceptibility syndrome characterised by renal tumours, lung cysts and pneumothoraces, and fibrofolliculomas. It is caused by dominantly inherited mutations in FLCN. Our objective was to report renal tumour characteristics in a large series ...

Last Updated: 18 Dec 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 4 free, full-text review articles on human participants. First 3 results:

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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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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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: 6 Aug 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: 11 May 2016

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