Birt-Hogg-Dube Syndrome

National Organization for Rare Disorders, Inc.

Important
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

  • 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 (hamartomas) affecting the head, face and upper torso. These benign tumors are fibrofolliculomas, 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

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
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: (404)320-3333
Tel: (800)227-2345
TDD: (866)228-4327
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: (847)332-1051
Fax: (847)332-2978
Tel: (800)850-9132
Email: kidney.cancer@hotmail.com
Internet: http://www.curekidneycancer.org

Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614
USA
Tel: (520)625-5495
Fax: (615)526-4921
Email: sharon.lane@rare-cancer.org
Internet: http://www.rare-cancer.org

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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