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Yang, C. Birt-Hogg-Dubé Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4988 (accessed on 15 June 2024).
Yang C. Birt-Hogg-Dubé Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4988. Accessed June 15, 2024.
Yang, Catherine. "Birt-Hogg-Dubé Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4988 (accessed June 15, 2024).
Yang, C. (2020, December 24). Birt-Hogg-Dubé Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4988
Yang, Catherine. "Birt-Hogg-Dubé Syndrome." Encyclopedia. Web. 24 December, 2020.
Birt-Hogg-Dubé Syndrome
Edit

Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.

genetic conditions

1. Introduction

Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dubé syndrome.

2. Frequency

Birt-Hogg-Dubé syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families.

3. Causes

Mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome. This gene provides instructions for making 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 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 uncontrolled cell growth and the formation of noncancerous and cancerous tumors. Researchers have not determined how FLCN mutations increase the risk of lung problems, such as pneumothorax.

4. Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family.

Having a single mutated copy of the FLCN gene in each cell is enough to cause the skin tumors and lung problems associated with Birt-Hogg-Dubé syndrome. However, both copies of the FLCN gene are often mutated in the kidney tumors that occur with this condition. One of the mutations is inherited from a parent, while the other occurs by chance in a kidney cell during a person's lifetime. These genetic changes disable both copies of the FLCN gene, which allows kidney cells to divide uncontrollably and form tumors.

5. Other Names for This Condition

  • BHD
  • fibrofolliculomas with trichodiscomas and acrochordons
  • Hornstein-Birt-Hogg-Dubé syndrome
  • Hornstein-Knickenberg syndrome

References

  1. Happle R. Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration.Am J Med Genet A. 2012 Jun;158A(6):1247-51. doi: 10.1002/ajmg.a.35330.
  2. Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, LambertD, Friedel J, Lévy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, Nordenskjöld M, Richard S. Clinical and genetic studies ofBirt-Hogg-Dubé syndrome. J Med Genet. 2002 Dec;39(12):906-12. Erratum in: J MedGenet. 2003 Feb;40(2):150..
  3. Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P,Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E,Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Mutations in a novel genelead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell. 2002 Aug;2(2):157-64.
  4. Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, Merino MJ. Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol. 2002Dec;26(12):1542-52.
  5. Sattler EC, Steinlein OK. Birt-Hogg-Dubé Syndrome. 2006 Feb 27 [updated 2020Jan 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1522/
  6. Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B,Linehan WM. Germline BHD-mutation spectrum and phenotype analysis of a largecohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 2005Jun;76(6):1023-33.
  7. Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, TurnerML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM,Zbar B. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneouspneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet.2001 Oct;69(4):876-82.
  8. Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML,Ma W, Linehan WM, Zbar B, Schmidt LS. Expression of Birt-Hogg-Dubé gene mRNA innormal and neoplastic human tissues. Mod Pathol. 2004 Aug;17(8):998-1011.
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