Synonyms

• BHD Syndrome
• Hornstein-Knickenberg Syndrome

Disorder Subdivisions

• None

General Discussion

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 [ this is important since oncocytomas are benign and should not be called tumors-neoplasia is more appropriate]. BHD syndrome is caused by mutations in the BHD gene and is inherited as an autosomal dominant trait.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

American Cancer Society, Inc.
1599 Clifton Road NE
Atlanta, GA 30329
USA
Tel: 4043203333
Tel: 8002272345
Internet: http://www.cancer.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
1 AMS Circle
Bethesda, MD 20892-3675
Tel: (301)496-8188
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NAMSIC@mail.nih.gov
Internet: http://www.nih.gov/niams/

Kidney Cancer Association
1234 Sherman Avenue
Suite 203
Evanston, IL 60202-1375
USA
Tel: 8473321051
Fax: 8473322978
Tel: 8008509132
Email: office@curekidneycancer.org
Internet: http://www.curekidneycancer.org

Cancer.Net
American Society of Clinical Oncology
2318 Mill Road
Suite 800
Alexandria, VA 22314
Tel: (571)483-1780
Fax: (571)366-9537
Tel: (888)651-3038
Email: contactus@cancer.net
Internet: http://www.cancer.net/patient

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 orphan@rarediseases.org

Last Updated:  10/22/2007
Copyright  2007National Organization for Rare Disorders, Inc.