Birt Hogg Dube Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Birt Hogg Dube Syndrome?
Care usually involves a dermatologist, a doctor who treats skin problems, plus a lung doctor or a kidney cancer specialist when needed. A geneticist can confirm the diagnosis. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Birt Hogg Dube syndrome?
Birt-Hogg-Dube syndrome (BHDS) is a rare inherited condition. It affects the skin and the lungs, and it raises the chance of certain tumors. The skin growths are small, benign, harmless bumps on the face, neck, and upper chest. They usually first show up in a person's twenties or thirties. Many people with BHDS also have cysts in the lungs. A cyst can rupture and let air leak into the chest, which can collapse a lung. BHDS also raises the risk of kidney tumors.
The cause is a change in the FLCN gene. This gene holds the instructions for making a protein called folliculin, which works as a tumor suppressor. A tumor suppressor keeps cells from growing out of control. When FLCN does not work, growths can form in the skin, lungs, and kidneys.
Symptoms
Signs of BHDS vary from person to person. They can include:
- Small, waxy, white or skin-colored bumps on the nose, cheeks, ears, neck, or trunk. These are benign hair follicle tumors called fibrofolliculomas.
- Lung cysts, which are small air pockets in the lung tissue.
- Sudden shortness of breath or sharp chest pain, which can mean a collapsed lung.
- Kidney tumors. These often cause no symptoms early on, which is why regular kidney scans are recommended.
Causes and who gets it
BHDS is passed down in an autosomal dominant pattern. That means a change in just one copy of the FLCN gene, on chromosome 17, is enough to cause it. Most people get the changed gene from a parent who also has the condition. Sometimes the change happens for the first time in a person with no family history. It affects men and women, and it usually first appears in young adulthood.
How doctors diagnose it
Doctors look at the skin, ask about family history, and check the lungs and kidneys with scans. A chest CT scan, which takes detailed X-ray pictures, can show lung cysts. A CT or MRI scan of the belly can check the kidneys. A genetic blood test can find a changed FLCN gene and confirm the diagnosis. A negative test does not fully rule it out, because some people who meet the criteria still test negative.
Treatment
There is no cure for BHDS, so care focuses on monitoring and treating problems as they come up. Skin bumps can be removed by electrocautery, curettage, or laser, but they often grow back. Lifelong kidney checks are recommended, often starting around age 20, using MRI or ultrasound scans. Kidney tumors smaller than 3 centimeters can be watched with scans. For larger ones, surgery that saves as much healthy kidney as possible is the treatment of choice. Chest scans every few years track the lung cysts. A collapsed lung is treated the same way as in other people, and surgery can be considered if it keeps coming back. Doctors also advise quitting smoking to help prevent collapsed lungs.
When to see a doctor
Call 911 if chest pain or discomfort lasts two minutes or more, or if you have serious trouble breathing. BHDS can cause a collapsed lung (pneumothorax), and these are its warning signs. Also see a doctor about blood in the urine, new skin bumps in a family with BHDS, or a family history of kidney cancer before age 50.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can keep track of your regular screening schedule, arrange referrals to a dermatologist, lung doctor, or urologist, and coordinate follow-up over the long term.
Common questions
Is Birt Hogg Dube syndrome cancer?
No, it is not cancer itself. The skin bumps are benign. But the condition raises the risk of kidney cancer over a person's lifetime, so regular kidney scans are an important part of care.
Can Birt Hogg Dube syndrome be prevented?
No. It is inherited, so it cannot be prevented. Early diagnosis and regular monitoring help catch lung and kidney problems early. Family members may benefit from genetic counseling and testing.
Will the skin bumps go away?
No, not on their own. They tend to become larger and more numerous over time. They can be removed with minor procedures such as laser treatment or electrocautery, but they often come back. Many people have them treated for cosmetic reasons.
Can people with BHDS fly?
Most can. Current guidance states there is no data showing that people with BHDS should avoid air travel. Ask your doctor first, especially if you have had a collapsed lung before.
Sources
- MedlinePlus Genetics - Birt-Hogg-Dube syndrome
- StatPearls, NCBI Bookshelf - Birt-Hogg-Dube Syndrome
- GeneReviews, NCBI Bookshelf - Birt-Hogg-Dube Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
