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.
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
American Cancer Society, Inc.
250 Williams NW St
Atlanta, GA 30303
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Kidney Cancer Association
1234 Sherman Avenue
Evanston, IL 60202-1375
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
26 Cadogan Square
London, SW1X 0JP
BHD Foundation c/o Myrovlytis Trust
26 Cadogan Square
London SW1X 0JP
Tel: +44 (0) 207 052 0088
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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.
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Last Updated: 4/3/2012
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