Birt-Hogg-Dube syndrome

Title

Other Names:

BHD syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; BHD; BHD syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; BHD; Hornstein-Knickenberg syndrome; Birt Hogg Dube syndrome See More

Categories:

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases; Rare Cancers; Skin Diseases See More

Summary Summary

Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.^[1]^[2]^[3]

Last updated: 7/1/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Emphysema		0002097
Papule		0200034
Skin tags		0010609
30%-79% of people have these symptoms
Abnormality of retinal pigmentation		0007703
Multiple lipomas	Multiple fatty lumps	0001012
Pulmonary sequestration		0100632
5%-29% of people have these symptoms
Medullary thyroid carcinoma		0002865
Parathyroid adenoma		0002897
Pneumothorax	Collapsed lung	0002107
Renal cell carcinoma	Cancer starting in small tubes in kidneys	0005584
1%-4% of people have these symptoms
Colon cancer		0003003
Cutaneous leiomyoma		0007620
Cutaneous leiomyosarcoma		0006755
Fibrofolliculoma		0030436
Sebaceous hyperplasia		0032227
Spontaneous pneumothorax	Spontaneous collapsed lung	0002108
Trichodiscoma		0032228
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Large intestinal polyposis		0030255
Multiple pulmonary cysts		0005948
Renal cyst	Kidney cyst	0000107
Renal neoplasm	Renal tumors	0009726

Showing of 22 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs.^[3] There is no recommended management of the lung cysts. Lung cysts related to BHD have not been associated with long-term disability or fatality.^[4] The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax).

If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan.^[3] Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions.^[4] It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking.^[4]^[5]

Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).^[5]

Last updated: 6/27/2014

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis of the multiple firm papules of BHD is dependent on whether the skin lesions are epithelial, mesodermal or mixed in origin. BHD patients and their relatives should seek genetic counseling and testing if possible. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Birt-Hogg-Dube syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Birt-Hogg-Dube syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Birt-Hogg-Dube syndrome:
MyVHL: Patient Natural History Study

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

BHD Foundation
United Kingdom
Telephone: +44(0)20 7193 8921
E-mail: contact@bhdsyndrome.org
Website: https://www.bhdsyndrome.org/
Kidney Cancer Association
1234 Sherman Avenue
Suite 203
Evanston, IL 60202-1375
Toll-free: 800-850-9132;
Telephone: 312-436-1455
Fax: 512-327-7002
E-mail: office@kidneycancer.org
http://KidneyCancer.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Birt-Hogg-Dube syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Birt-Hogg-Dube syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

(General Scientific Conferences)

BHD Foundation provides information on previous and upcoming conferences related to this condition.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My husband is a survivor of chromophobe renal cell carcinoma (RCC). In addition, he has a lung hamartoma and bladder lipoma. Should genetic testing for Birt-Hogg-Dube syndrome (BHDS) be considered in light of his cancer history and other findings? See answer
What is the best way to treat the cysts that develop on the lungs as a result of this condition? See answer
How should patients with Birt Hogg Dube syndrome be monitored (i.e. for kidney tumors)? See answer

Have a question? Contact a GARD Information Specialist.

References References

Birt-Hogg-Dubé syndrome. Genetics Home Reference (GHR). 01/2013; http://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome. Accessed 7/1/2015.
Schmidt LS. Birt-Hogg-Dube Syndrome. National Organization for Rare Disorders (NORD). 2012; http://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/. Accessed 7/5/2014.
Toro JR. Birt-Hogg-Dubé Syndrome. GeneReviews. 08/07/2014; http://www.ncbi.nlm.nih.gov/books/NBK1522/.
Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. American Journal of Respiratory and Critical Care Medicine. 2007; 175(10):1044-1053. Available at http://www.ncbi.nlm.nih.gov/pubmed/17322109. Accessed 6/27/2014.
Menko FH, van Steensel, MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, O Hansen TV, Solly J, Maher, ER. Birt-Hogg-Dubé syndrome: diagnosis and management. The Lancet Oncology. 2009; 10(12):1199-1206. http://www.bhdsyndrome.org/wp-content/uploads/2009/12/Menko-et-al-20091.pdf. Accessed 6/27/2014.