National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Birt-Hogg-Dube 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.
Synonyms Back to top
- BHD syndrome
- Hornstein-Knickenberg syndrome
Disorder Subdivisions Back to top
General Discussion Back to top
Birt-Hogg-Dube (BHD) syndrome is a rare complex genetic skin disorder (genodermatosis) characterized by the development of benign skin tumors (hamartomas) affecting the head, face and upper torso. These benign tumors are fibrofolliculomas, tumors of the hair follicles. BHD syndrome also predisposed 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 BHD gene and is inherited as an autosomal dominant trait.
Resources Back to top
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
American Cancer Society, Inc.
1599 Clifton Road NE
Atlanta, GA 30329
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
Tel: + 44 (0)207 193 8921
For a Complete Report Back to top
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 www.rarediseases.org 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 www.rarediseases.org or email email@example.com
Last Updated: 12/17/2010
Copyright 2007 National Organization for Rare Disorders, Inc.
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