Birt-Hogg-Dubé syndrome

Jump to: navigation, search
Birt-Hogg-Dubé syndrome
OMIM 135150
DiseasesDB 33274
eMedicine derm/622 

WikiDoc Resources for

Birt-Hogg-Dubé syndrome

Articles

Most recent articles on Birt-Hogg-Dubé syndrome

Most cited articles on Birt-Hogg-Dubé syndrome

Review articles on Birt-Hogg-Dubé syndrome

Articles on Birt-Hogg-Dubé syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Birt-Hogg-Dubé syndrome

Images of Birt-Hogg-Dubé syndrome

Photos of Birt-Hogg-Dubé syndrome

Podcasts & MP3s on Birt-Hogg-Dubé syndrome

Videos on Birt-Hogg-Dubé syndrome

Evidence Based Medicine

Cochrane Collaboration on Birt-Hogg-Dubé syndrome

Bandolier on Birt-Hogg-Dubé syndrome

TRIP on Birt-Hogg-Dubé syndrome

Clinical Trials

Ongoing Trials on Birt-Hogg-Dubé syndrome at Clinical Trials.gov

Trial results on Birt-Hogg-Dubé syndrome

Clinical Trials on Birt-Hogg-Dubé syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Birt-Hogg-Dubé syndrome

NICE Guidance on Birt-Hogg-Dubé syndrome

NHS PRODIGY Guidance

FDA on Birt-Hogg-Dubé syndrome

CDC on Birt-Hogg-Dubé syndrome

Books

Books on Birt-Hogg-Dubé syndrome

News

Birt-Hogg-Dubé syndrome in the news

Be alerted to news on Birt-Hogg-Dubé syndrome

News trends on Birt-Hogg-Dubé syndrome

Commentary

Blogs on Birt-Hogg-Dubé syndrome

Definitions

Definitions of Birt-Hogg-Dubé syndrome

Patient Resources / Community

Patient resources on Birt-Hogg-Dubé syndrome

Discussion groups on Birt-Hogg-Dubé syndrome

Patient Handouts on Birt-Hogg-Dubé syndrome

Directions to Hospitals Treating Birt-Hogg-Dubé syndrome

Risk calculators and risk factors for Birt-Hogg-Dubé syndrome

Healthcare Provider Resources

Symptoms of Birt-Hogg-Dubé syndrome

Causes & Risk Factors for Birt-Hogg-Dubé syndrome

Diagnostic studies for Birt-Hogg-Dubé syndrome

Treatment of Birt-Hogg-Dubé syndrome

Continuing Medical Education (CME)

CME Programs on Birt-Hogg-Dubé syndrome

International

Birt-Hogg-Dubé syndrome en Espanol

Birt-Hogg-Dubé syndrome en Francais

Business

Birt-Hogg-Dubé syndrome in the Marketplace

Patents on Birt-Hogg-Dubé syndrome

Experimental / Informatics

List of terms related to Birt-Hogg-Dubé syndrome


Birt-Hogg-Dubé syndrome (BHD) is a rare human genetic disorder. The disorder has been reported in more than 30 families, and it is inherited in an autosomal dominant pattern.

Presentation

Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and increases the risk of certain types of tumors. The condition is characterized by multiple noncancerous tumors of the hair follicles, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties. People with Birt-Hogg-Dubé syndrome also have an increased risk of developing cancerous or noncancerous kidney tumors and possibly tumors in other organs and tissues. Additionally, affected individuals have a higher chance of developing cysts in the lungs and an abnormal collection of air in the chest cavity (pneumothorax) that may result in the collapse of a lung.

Genetics

Mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome.[1] The FLCN gene makes a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the FLCN gene may interfere with the ability of folliculin to restrain cell growth and division, leading to the formation of noncancerous and cancerous tumors.

Researchers believe that two copies (instead of one copy) of the FLCN gene must be altered for a person to develop the kidney tumors often seen in Birt-Hogg-Dubé syndrome. People with this condition are born with one mutated copy of the FLCN gene in each cell. Then, during their lifetime, the other copy of the gene is mutated in kidney cells. These genetic changes result in no functional copies of the FLCN gene in these cells, allowing the cells to divide uncontrollably and form tumors.

History

The syndrome was first described in 1977. [2]

References

  1. Nickerson, M. L. et al. 2002. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2: 157-164. PMID 12204536
  2. Birt, A. R., Hogg, G. R., and Dubé, W. J. 1977. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch. Derm. 113: 1674-1677. PMID 596896

This article incorporates public domain text from The U.S. National Library of Medicine


it:Sindrome di Birt-Hogg-Dubé


Navigation WikiDoc | WikiPatient | Up To Date Pages | Recently Edited Pages | Recently Added Pictures

Table of Contents In Alphabetical Order | By Individual Diseases | Signs and Symptoms | Physical Examination | Lab Tests | Drugs

Editor Tools Become an Editor | Editors Help Menu | Create a Page | Edit a Page | Upload a Picture or File | Printable version | Permanent link | Maintain Pages | What Pages Link Here
There is no pharmaceutical or device industry support for this site and we need your viewer supported Donations | Editorial Board | Governance | Licensing | Disclaimers | Avoid Plagiarism | Policies
Linked-in.jpg