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Birt-Hogg-Dubé syndrome synonyms

What other names are the Birt-Hogg-Dubé syndrome known by? Synonyms and other terms with which Birt-Hogg-Dubé syndrome is known.

Birt-Hogg-Dubé syndrome is also known as...

Birt-Hogg-Dubé syndrome synonyms:


Birt-Hogg-Dubé syndrome, also known as BHD syndrome, is a rare genetic disorder characterized by the development of benign skin tumors, lung cysts, and an increased risk of certain types of kidney cancer. While it is commonly referred to as Birt-Hogg-Dubé syndrome, there are no widely recognized synonyms for this specific condition.


BHD syndrome is caused by mutations in the FLCN gene, which is responsible for producing a protein called folliculin. This protein plays a role in regulating cell growth and division. When the FLCN gene is mutated, it can lead to the development of various symptoms associated with Birt-Hogg-Dubé syndrome.


Individuals with Birt-Hogg-Dubé syndrome may develop multiple skin tumors called fibrofolliculomas, which typically appear on the face, neck, and upper body. These tumors are usually harmless but can cause cosmetic concerns. Lung cysts are another common feature of the syndrome, which can lead to spontaneous pneumothorax (collapsed lung) in some cases.


Kidney cancer is a significant concern for individuals with Birt-Hogg-Dubé syndrome. They have an increased risk of developing various types of kidney tumors, including chromophobe renal cell carcinoma, oncocytoma, and hybrid oncocytic/chromophobe tumors. Regular monitoring and early detection are crucial for managing this risk.


While there are no specific synonyms for Birt-Hogg-Dubé syndrome, it is important to note that it is a distinct condition with its own set of symptoms and genetic basis. Proper diagnosis and management of the syndrome are essential for individuals and their families to ensure appropriate medical care and surveillance.


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Stories of Birt-Hogg-Dubé syndrome

BIRT-HOGG-DUBÉ SYNDROME STORIES
Birt-Hogg-Dubé syndrome stories
I was recently diagnosed through genetic testing. It was brought to my attention when i was sent to a specialist (last year) because of the bumps on my face. Tests revealed they were foliculomas, then genetic testing confirmed the BHD diagnosis. I re...
Birt-Hogg-Dubé syndrome stories
I had a flawless complexion as a teenager with exception of one large flesh colored mole on my nose. At age 30 I was diagnoised with Rosacea (adult acne). DID NOT MAKE SENSE TO ME. At 36 years old had 1st Lung collapse. Diagnoised with Lung cysts and...
Birt-Hogg-Dubé syndrome stories
My husband is the one with the disease, many years ago he had many pnemothorax and first now with a new disease dilated aorta, they did a gene test and found this new disease. So now he is been checked with MR and so on.
Birt-Hogg-Dubé syndrome stories
I just found out that I have Bhds. As a family we found out that my brother had it and another rare genetic mutation when he found out that he had stage 4 kidney cancer. It took a while but I was finally able to be tested for both. I came back positi...
Birt-Hogg-Dubé syndrome stories
I am 60 and was diagnosied with Cystic Fibrosis I did not do the whole panel for CF and I have been at a CF Clinic for 10 years now ,I gave my daughter up for adoption when she was a small child I was so sick and could not care for me or her .I have ...

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