How do you test for Birt-Hogg-Dubé syndrome?
Genetic tests are usually done with a blood test. A small sample of blood is taken, DNA is extracted from blood cells, and the Folliculin gene is sequenced to look for a mutation. If a blood test is not an option, cheek swabs can be used in some cases. Only certified labs can do genetic testing for BHD.
What is Birt-Hogg-Dubé syndrome?
(birt-hog-doo-BAY SIN-drome) A rare, inherited disorder in which benign (not cancer) skin lesions called fibrofolliculomas form in the hair follicles on the face, neck, and chest. Patients with Birt-Hogg-Dubé syndrome have an increased risk of kidney cancer and benign kidney tumors.
What is a Fibrofolliculoma?
(FY-broh-fuh-LIH-kyoo-LOH-muh) A benign tumor of the hair follicle that appears as a small, whitish papule. Fibrofolliculomas are typically found on the face, ears, neck, and upper torso. They are pathognomonic for Birt-Hogg-Dubé syndrome, a hereditary condition associated with the development of kidney cancer.
What is the FLCN gene?
The mutated folliculin gene has been found in an inherited condition called Birt-Hogg-Dube syndrome (BHDS). Patients with BHDS have an increased risk of kidney cancer and tumors of the skin and lungs. The folliculin gene is a type of tumor suppressor gene. Also called FLCN gene.
How do you treat Birt Hogg Dube syndrome?
Treatment may include the use of a laser beam to destroy affected skin tissue (laser ablation). This treatment is highly successful in treating the skin lesions associated with BHD syndrome, but the lesions often return (relapse).
How do you pronounce Birt Hogg Dube?
Pronunciation: (birt-hog-doob SIN-drome)
What is Bhd?
Birt-Hogg-Dubé syndrome (BHD) is a hereditary condition associated with multiple non-cancerous (benign) skin tumors, lung cysts, and an increased risk of kidney lesions (cysts, benign tumors, and kidney cancer.)
Is PTEN an oncogene?
PTEN acts as a tumor suppressor gene through the action of its phosphatase protein product. This phosphatase is involved in the regulation of the cell cycle, preventing cells from growing and dividing too rapidly. It is a target of many anticancer drugs….PTEN (gene)
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Can pneumothorax be inherited?
In most cases, a person inherits the FLCN gene mutation from an affected parent. People who have an FLCN gene mutation associated with primary spontaneous pneumothorax all appear to develop blebs, but it is estimated that only 40 percent of those individuals go on to have a primary spontaneous pneumothorax.
How common is PTEN mutation?
PTEN mutations have been identified in approximately 20 percent of patients with Proteus syndrome and in 50 percent of patients with Proteus-like syndrome, suggesting that a subset of patients with Proteus and Proteus-like syndromes may have PHTS.
Why is PTEN a tumor suppressor?
PTEN acts as a tumor suppressor gene through the action of its phosphatase protein product. This phosphatase is involved in the regulation of the cell cycle, preventing cells from growing and dividing too rapidly. It is a target of many anticancer drugs.
What is the most common cause of pneumothorax?
A pneumothorax can be caused by:
- Chest injury. Any blunt or penetrating injury to your chest can cause lung collapse.
- Lung disease. Damaged lung tissue is more likely to collapse.
- Ruptured air blisters. Small air blisters (blebs) can develop on the top of the lungs.
- Mechanical ventilation.