Birt-Hogg-Dubé Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Birt-Hogg-Dubé Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Birt-Hogg-Dubé (BHD) syndrome is a rare complex genetic skin disorder (genodermatosis) characterized by the development of skin papules generally located on the head, face and upper torso. These benign tumors (hamartomas) of the hair follicle are called fibrofolliculomas. BHD syndrome also predisposes individuals to the development of benign cysts in the lungs, repeated episodes of a collapsed lung (pneumothorax), and increased risk for developing renal neoplasia. BHD syndrome is caused by mutations in the FLCN (alias BHD) gene and is inherited as an autosomal dominant trait.

Supporting Organizations

American Cancer Society, Inc.

250 Williams NW St
Ste 6000
Atlanta, GA 30303
Tel: (404)320-3333
Tel: (800)227-2345

BHD Foundation

BHD Foundation c/o Myrovlytis Trust
26 Cadogan Square
London SW1X 0JP
Tel: +44 (0) 207 052 0088

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

Kidney Cancer Association

P.O. Box 803338 #38269
Chicago, IL 60680-3338
Tel: (847)332-1051
Fax: (847)332-2978
Tel: (800)850-9132

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: or
Website: and

Myrovlytis Trust

26 Cadogan Square
London, SW1X 0JP
United Kingdom
Tel: +44 (0)20 7193 8921

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267

Rare Cancer Alliance

1649 North Pacana Way
Green Valley, AZ 85614

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  4/27/2015
Copyright  2015 National Organization for Rare Disorders, Inc.