Rare Dermatology News

Disease Profile

Birt-Hogg-Dube syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Adult

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ICD-10

D23.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

BHD syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; BHD;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases;

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]

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.

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

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

    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]

    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

      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.

          References

          1. Birt-Hogg-Dubé syndrome. Genetics Home Reference (GHR). 01/2013; https://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome. Accessed 7/1/2015.
          2. Schmidt LS. Birt-Hogg-Dube Syndrome. National Organization for Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/. Accessed 7/5/2014.
          3. Toro JR. Birt-Hogg-Dubé Syndrome. GeneReviews. 08/07/2014; https://www.ncbi.nlm.nih.gov/books/NBK1522/.
          4. 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 https://www.ncbi.nlm.nih.gov/pubmed/17322109. Accessed 6/27/2014.
          5. 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. https://www.bhdsyndrome.org/wp-content/uploads/2009/12/Menko-et-al-20091.pdf. Accessed 6/27/2014.

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