Birt–Hogg–Dubé syndrome and Tramar Dillard: Difference between pages

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-{{Infobox_Disease |
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-  DiseasesDB     = 33274 |
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-  OMIM           = 135150 |
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-  eMedicineSubj  = derm |
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-'''Birt-Hogg-Dubé syndrome''' (BHD) is a very rare human [[genetic disorder]]. The disorder has been reported in more than 100 families worldwide, and it is [[heredity|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 [[tumor]]s. The condition is characterized by multiple noncancerous tumors of the [[hair follicle]]s, 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 [[cancer]]ous or noncancerous [[kidney]] tumors and possibly tumors in other organs and tissues. Additionally, affected individuals have a higher chance of developing [[cyst]]s in the [[lung]]s 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.<ref>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 </ref> 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]].<ref>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 </ref>  The [http://www.MyrovlytisTrust.org Myrovlytis Trust] has recently started supporting research into BHD syndrome.  The Inaugural BHD syndrome Symposium was held in Roskilde, Denmark, in September 2008: 47 of the worlds leading BHD researchers and clinicians, as well as family members affected by BHD, attended this scientific meeting.  More information about BHD syndrome is available at the world's first website dedicated to BHD syndrome - [http://www.BHDSyndrome.org BHDSyndrome.org]
-==References==
-{{reflist}}
-''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''
-[[Category:Genetic disorders]][[Category:Rare diseases]]
-[[fr:Syndrome de Birt-Hogg-Dubé]]
-[[it:Sindrome di Birt-Hogg-Dubé]]
-[[nl:Syndroom van Birt-Hogg-Dubé]]
-[[pl:Zespół Birt-Hogg-Dubé]]