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

Familial pneumothoraces: Birt-Hogg-Dubé syndrome.
 

Author(s): Elżbieta Radzikowska, Inga Barańska, Agnieszka Sobczyńska-Tomaszewska, Elżbieta Wiatr, Kazimierz Roszkowski-Śliż

Journal: Pol. Arch. Med. Wewn.. 2016 Nov;126(11):897-898.

 

Last Updated: 1 Dec 2016

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A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.
 

Author(s): Takuro Yukawa, Takuya Fukazawa, Masakazu Yoshida, Ichiro Morita, Katsuya Kato, Yasumasa Monobe, Mitsuko Furuya, Yoshio Naomoto

Journal:

 

BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneumothorax, renal cell cancer, and skin fibrofolliculomas. The disorder is caused by germline mutations in the FLCN gene. CASE REPORT A 56-year-old ...

Last Updated: 26 Oct 2016

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Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.
 

Author(s): Li Dong, Ming Gao, Wei-Jing Hao, Xiang-Qian Zheng, Yi-Gong Li, Xiao-Long Li, Yang Yu

Journal: Medicine (Baltimore). 2016 May;95(22):e3695.

 

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological ...

Last Updated: 4 Jun 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 7 free, full-text review articles on human participants. First 3 results:

Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
 

Author(s): Hisashi Hasumi, Masaya Baba, Yukiko Hasumi, Mitsuko Furuya, Masahiro Yao

Journal: Int. J. Urol.. 2016 Mar;23(3):204-10.

 

Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary ...

Last Updated: 3 Mar 2016

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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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Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement.
 

Author(s): Aline Amaral Dal Sasso, Luciana Camara Belém, Gláucia Zanetti, Carolina Althoff Souza, Dante Luiz Escuissato, Klaus Loureiro Irion, Marcos Duarte Guimarães, Edson Marchiori

Journal: Respir Med. 2015 Mar;109(3):289-96.

 

Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) ...

Last Updated: 4 Mar 2015

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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

Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome
 

Status: Recruiting

Condition Summary: Birt-Hogg-Dube Syndrome

 

Last Updated: 30 Jan 2017

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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: 20 Apr 2017

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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: 21 Apr 2017

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