What Is Birt-Hogg-Dube Syndrome

Birt-Hogg-Dube syndrome (BHD) is inherited by each generation. At least 100 families are known to have the disease. The disease causes you to have a more likley chance of developing Renal Cancer, noncancerous tumors of the hair follicles, renal and pulmonary cysts. The disease also afects a person's skin in different ways. A person may have the disease all their life, but not notice it until they are about 20 or 30. Also, the BHD is not related to gender in any way. It affects boys and girls the same.
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What Causes BHD?


It is caused when the FLCN gene on the short arm of the 17th chromosome has been mutated. The disease is often passed on through the autosomes, but sometimes the chromosome can become mutated without a prior parent having the disease. The disease is not contagious and can't be obtained later in life, only at birth. It is unknown what causes the chromosome to become mutated in the first place.


What Are Some Signs & Symptoms?

People with the disease may see growths on their chest, face, and neck. They may also develope cancerous and noncancerous kidney tumors. A person may also experience cysts of the lungs that may lead to lung colapse. What is called the Clinical Triad is how doctors identify that you have BHD.
  1. Abnormal hair follicle growth and odd growths on the chest, face, and neck
  2. Multiple Cysts in the lungs and spontanious pnuemothorax
  3. Cancerous and noncancerous renal tumors
It is possible to have numbers 2 and 3 without number 1.

What Are Some Treatment Options?

Skin: Some doctors will remove the lesions on your skin in different ways. But, if there are too many lesions, removal can result in scaring. Also, the lesions will eventually grow back, so you can never completely get rid of them.

Kidneys: Most doctors have never treated BHD, so finding one to help you is difficult. Also, the type of kidney cancer that comes from BHD is less common to the nonhereditary type of kidney cancer, so most doctors only know how to treat that type. Is you do find a doctor, make sure the tumors are removed before they reach 3cm in diameter.
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References
http://emedicine.medscape.com/article/1060579-overview
http://www.bhdsyndrome.org/families/diagnosis-treatment/kidney-treatment/
http://en.wikipedia.org/wiki/Birt-Hogg-Dub%C3%A9_syndrome