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

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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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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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

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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: 21 Jul 2015

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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: 22 Apr 2015

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