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Is Birt-Hogg-Dubé syndrome hereditary?

Here you can see if Birt-Hogg-Dubé syndrome can be hereditary. Do you have any genetic components? Does any member of your family have Birt-Hogg-Dubé syndrome or may be more predisposed to developing the condition?

Is Birt-Hogg-Dubé syndrome hereditary?

Birt-Hogg-Dubé syndrome is indeed hereditary. It is caused by mutations in the FLCN gene, which is passed down from parents to their children. This autosomal dominant condition means that an affected individual has a 50% chance of passing the syndrome on to each of their children. Genetic testing and counseling can help determine the risk of inheriting the syndrome and provide guidance for affected families.



Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disorder that affects multiple organ systems in the body. It was first described in 1977 by Drs. Birt, Hogg, and Dubé, hence the name. BHDS is characterized by the development of benign skin tumors, lung cysts, and an increased risk of certain types of kidney tumors.



Genetic studies have shown that BHDS is caused by mutations in the Folliculin (FLCN) gene. This gene provides instructions for making a protein that is involved in regulating cell growth and division. In individuals with BHDS, mutations in the FLCN gene lead to the production of an abnormal or nonfunctional protein, which disrupts normal cellular processes.



Hereditary nature of BHDS:



BHDS is inherited in an autosomal dominant manner, which means that a person with a mutation in one copy of the FLCN gene has a 50% chance of passing the mutation on to each of their children. Both males and females can be affected by BHDS, and the severity of the symptoms can vary widely even among affected family members.



It is important to note that not everyone who inherits a mutation in the FLCN gene will develop BHDS or show symptoms of the syndrome. This phenomenon is known as reduced penetrance. The reasons behind reduced penetrance in BHDS are not yet fully understood, but it suggests that other genetic or environmental factors may influence the development and severity of the syndrome.



Diagnosis and clinical features:



The diagnosis of BHDS is typically based on a combination of clinical features, family history, and genetic testing. The most common clinical manifestations of BHDS include:




  • Benign skin tumors: BHDS is often associated with the development of multiple fibrofolliculomas, which are small, flesh-colored or reddish-brown bumps on the skin. These tumors typically appear on the face, neck, and upper body.

  • Lung cysts: Individuals with BHDS may develop multiple cysts in their lungs. These cysts are usually asymptomatic and are often discovered incidentally on imaging studies.

  • Kidney tumors: BHDS is also associated with an increased risk of certain types of kidney tumors, including chromophobe renal cell carcinoma and oncocytoma. The age of onset and severity of kidney involvement can vary among affected individuals.



Management and treatment:



There is currently no cure for BHDS, and treatment mainly focuses on managing the symptoms and reducing the risk of complications. Regular monitoring and screening for kidney tumors are recommended for individuals with BHDS, as early detection can improve outcomes. Lung cysts are typically managed conservatively, but in some cases, intervention may be necessary if they cause symptoms or complications.



Genetic counseling is an essential component of the management of BHDS. Individuals with a family history of BHDS or those who have been diagnosed with the syndrome should consider seeking genetic counseling to understand the inheritance pattern, assess the risk of passing on the mutation to their children, and discuss available testing options.



Conclusion:



Birt-Hogg-Dubé syndrome is a rare genetic disorder caused by mutations in the FLCN gene. It is inherited in an autosomal dominant manner, with variable penetrance. BHDS is characterized by the development of benign skin tumors, lung cysts, and an increased risk of certain kidney tumors. While there is no cure for BHDS, regular monitoring and screening can help manage the symptoms and reduce the risk of complications. Genetic counseling is crucial for individuals with BHDS and their families to understand the inheritance pattern and make informed decisions.


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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.
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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...
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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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