Birt-Hogg-Dubé Syndrome

National Organization for Rare Disorders, Inc.

It is possible that the main title of the report Birt-Hogg-Dubé Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • BHD syndrome
  • Hornstein-Knickenberg syndrome

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.


March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763

American Cancer Society, Inc.
250 Williams NW St
Ste 6000
Atlanta, GA 30303
Tel: (404)320-3333
Tel: (800)227-2345
TDD: (866)228-4327

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
TDD: (301)565-2966

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

Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614

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
TDD: (888)205-3223

Myrovlytis Trust
26 Cadogan Square
London, SW1X 0JP
United Kingdom
Tel: 4402070520088

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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  4/3/2012
Copyright  2007, 2012 National Organization for Rare Disorders, Inc.