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

Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome.
 

Author(s): Kazunori Tobino, Toyohiro Hirai, Takeshi Johkoh, Kiminori Fujimoto, Atsushi Kawaguchi, Noriyuki Tomiyama, Kazuhisa Takahashi, Kuniaki Seyama

Journal:

 

Many groups developed the methods to quantitatively analyze low attenuation area (LAA) on chest CT in patients with cystic lung diseases. Especially in COPD, it was reported that the cumulative size distribution of LAA clusters follows a power law characterized by the exponent D, ...

Last Updated: 31 Dec 1969

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Detection of Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.
 

Author(s): Lv Liu, Kai Yang, Xiang Wang, Zhihui Shi, Yifeng Yang, Yu Yuan, Ting Guo, Xiaocui Xiao, Hong Luo

Journal: Biomed Res Int. 2017 ;2017():8751384.

 

Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in (, NM_144997) ...

Last Updated: 31 Dec 1969

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Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
 

Author(s): Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang

Journal:

 

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies ...

Last Updated: 31 Dec 1969

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

Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases.
 

Author(s): Jung Eun Lee, Yoon Ki Cha, Jeung Sook Kim, Jin Ho Choi

Journal: Diagn Interv Radiol. ;23(5):354-359.

 

Birt-Hogg-Dubé (BHD) syndrome is an uncommon, autosomal dominant, multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. Spontaneous pneumothorax and lung cysts on chest computed tomography (CT) ...

Last Updated: 31 Dec 1969

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Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.
 

Author(s): Shengyu Hao, Fei Long, Fenglan Sun, Teng Liu, Daowei Li, Shujuan Jiang

Journal:

 

The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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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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: 7 Feb 2018

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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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