Medical Oncologist
CION Cancer Clinics
Birt-Hogg-Dubé syndrome: what it is and what it means for your family | CION Cancer Clinics
Birt-Hogg-Dubé syndrome is a rare inherited condition caused by a fault in the FLCN gene. It can cause small harmless skin bumps, air-filled cysts that can make a lung collapse, and a raised risk of kidney tumours. Most people with it lead full lives once their kidneys are being watched. This page explains what BHD is, how it runs in families and what a diagnosis changes. At CION Cancer Clinics, our oncologists plan screening and care for families with an inherited cancer syndrome, explained in plain words.
NG
Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
17+specialists on panel
15,000+patients treated
35+centres across Telangana & AP
4.8★ / 800+Google rating
On this page
The short answer
What is Birt-Hogg-Dubé syndrome?
Birt-Hogg-Dubé syndrome, often shortened to BHD, is a rare inherited condition caused by a fault in a gene called FLCN. It can cause small harmless bumps on the face, air-filled pockets in the lungs, and a raised risk of kidney tumours. It is not a cancer in itself, and many people with it never develop one.
A fault in one gene, passed down a family
FLCN normally helps cells control how they grow and how they use energy. A person with BHD is born with one faulty copy of this gene in every cell. The fault is passed from parent to child. Each child of a person with BHD has a one in two chance of inheriting it, whether the child is a son or a daughter.
Why it is so often missed
The three features rarely arrive together, and each one is seen by a different doctor. A young person with a collapsed lung is treated in casualty and sent home. The skin bumps are called warts or acne. A kidney tumour is removed without anyone asking about the family. Only when someone connects these events does the name BHD come up.
A collapsed lung in more than one relative is one of the clearest clues to ask about BHD.What doctors look for
What are the three signs of BHD?
Each person with BHD can have a different mix. Some have all three signs, some have only one, and a few have none that show.
Skin bumps
Small, pale or skin-coloured domes on the face, neck and upper chest, called fibrofolliculomas. They are harmless and usually appear in adult life, often slowly increasing in number.
Lung cysts
Thin-walled air pockets, mostly near the base of the lungs. Most adults with BHD have them on a CT scan. They rarely affect breathing, but they can burst and make a lung collapse.
Kidney tumours
A minority of people with BHD develop kidney tumours, but the risk is clearly higher than in the general population. The tumours tend to grow slowly and can appear in both kidneys.
Why this one matters most
- It is the only feature that can become cancer
- Regular scans can find tumours while small
The mix varies by family
Studies from East Asia suggest skin bumps may be less common in Asian families, with lung problems more often the first sign. Indian data are scarce.
Not sure whether this applies to you?
Ask an oncologistFrom suspicion to answer
How is BHD diagnosed?
Someone spots the pattern
Often a chest doctor sees cysts on a CT scan after a collapsed lung, or a kidney surgeon notices an unusual tumour type in the pathology report. A dermatologist may recognise the skin bumps.
A family tree is drawn
A genetic counsellor asks who in the family had a collapsed lung, kidney tumours or facial bumps, and at what age. Relatives on both sides are included, and men are counted as carefully as women.
A blood test looks at FLCN
A simple blood sample is tested for a fault in the FLCN gene. A skin biopsy of one bump can support the diagnosis while the result is awaited.
Relatives are offered testing
Once the family fault is known, parents, brothers, sisters and adult children can be tested for that exact fault. A negative result means they need no extra checks.
On your report
What do the words on a BHD report mean?
- FLCN
- The gene behind BHD. Its full name is folliculin. A harmful change in it is what the test looks for.
- Pathogenic variant
- A change in the gene known to stop it working. This is what people mean when they say a gene fault.
- Fibrofolliculoma
- The typical BHD skin bump. It grows from a hair root and is not cancer.
- Pneumothorax
- The medical word for a collapsed lung, when air leaks into the space around the lung.
- Chromophobe or hybrid tumour
- Kidney tumour types seen often in BHD. The pathology report may use these words.
- Autosomal dominant
- One faulty copy from either parent is enough to pass the condition on. It affects men and women equally.
Leave a number, we will call you
One field. No form to fill in, and no charge for the call.
Side by side
What does a BHD diagnosis change, and what does it not?
What changes
What stays the same
Regular kidney scans start in adult life
Everyday work, study and family life
A sudden chest pain is taken seriously at once
Most people breathe normally day to day
Relatives can be tested for the exact fault
Relatives who test negative need nothing extra
Smoking becomes even more important to avoid
Skin bumps remain a cosmetic matter only
Being straight with you
What this page cannot tell you
It cannot tell you whether you have BHD. Skin bumps, a single collapsed lung or a kidney tumour each have many common causes, and most people with one of them do not have BHD. Only a genetic counsellor who has looked at your family history, and in most cases a blood test, can answer that.
It cannot read your report
What your specific variant means is a question for the counsellor who ordered the test. Some FLCN changes are clearly harmful. Others are of uncertain significance, which means the laboratory does not yet know. That kind of result should not start kidney scans or change any decision on its own.
Who this does not apply to
Most people do not need this test. A single collapsed lung in a tall, thin young man who smokes, with no family pattern, is common and usually has nothing to do with BHD. People whose FLCN change was found only in a tumour sample have a tumour result, not an inherited one. Tumour testing is covered on our targeted therapy pages.
Evidence on BHD is still growing, because it is rare. Studies so far are small, and very few come from India.Commonly believed
What do families often believe about BHD?
"BHD means I have cancer."
It does not. BHD is an inherited tendency. The skin bumps and lung cysts are not cancer. Only the kidney tumours can be, and regular scans are there to find them early.
"The skin bumps are the dangerous part."
The bumps are harmless and never turn into cancer. They are often the most visible sign, which is why people worry about them, but the kidneys are what need watching.
"Nobody else in the family has a collapsed lung, so it cannot be inherited."
Many people with BHD never have a collapsed lung. A parent may carry the fault with only a few faint skin bumps, or with nothing visible at all.
"If my lungs are full of cysts, I should not work or exercise."
Most people with BHD cysts breathe normally and can work and exercise. The advice is to know the warning signs of a collapsed lung and to discuss flying and scuba diving with your chest doctor.
Questions we are asked
Common questions about Birt-Hogg-Dubé syndrome
Is Birt-Hogg-Dubé syndrome a type of cancer?
No. It is an inherited condition that raises the chance of kidney tumours, some of which are cancers. The skin and lung features are not cancer. Many people with BHD never develop a kidney tumour, and those who do are usually found early if they are having regular scans.
How common is BHD?
It is rare, and probably under-diagnosed because its features are spread across different specialists. Several hundred families have been described worldwide, and more are found as genetic testing becomes easier and cheaper. Reliable Indian figures are not available yet.
What should I do if my lung collapses suddenly?
Sudden chest pain on one side with breathlessness needs the nearest emergency department the same day. Tell the doctors you have BHD or a family history of collapsed lungs. Do not wait to see whether it settles, and do not travel by air until a doctor has cleared you.
Can the skin bumps be removed?
Yes, for cosmetic reasons, if they bother you. Dermatologists use methods such as laser treatment or gentle surgical removal. The bumps often come back over time, because the underlying tendency is still there. Removing them does not change the kidney or lung risk.
Should my children be tested for BHD?
Testing is usually offered once a child reaches adulthood, because BHD features rarely appear in childhood and kidney scans start in adult life. Some families choose earlier testing after counselling. Discuss the timing with a genetic counsellor rather than deciding alone.
Does smoking matter more if I have BHD?
Yes. Smoking damages lungs that already contain cysts and adds its own kidney cancer risk. Stopping is one of the few changes fully in your control. Your doctor can refer you to a stop smoking programme if you need help.
Will BHD affect marriage or having children?
BHD does not affect fertility. Each child has a one in two chance of inheriting it. Many families in India worry about disclosure before marriage. A counsellor can help you think through who to tell and when, without pressure either way.
Where can I get tested in Telangana?
Start with a genetic counsellor or your oncologist, who can arrange FLCN testing through an accredited laboratory. Bring any CT reports, kidney pathology reports and a list of relatives with collapsed lungs. Call the CION helpline if you are not sure where to begin.
Your Specialists
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
Medical Oncologist
Medical Oncologist
Want a specific doctor for your case? Mention them when booking.
Book Free ConsultationBook an appointment with our specialist
Share your name and number — we'll call you back within 30 minutes to schedule your consultation.
Sources
- GeneReviews (NCBI Bookshelf) — Birt-Hogg-Dubé Syndrome
- MedlinePlus Genetics — Birt-Hogg-Dubé syndrome
- National Cancer Institute — Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ) - Health Professional Version
- NHS — Collapsed lung (pneumothorax)
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
Talk to us
Could the collapsed lungs in your family be connected?
Tell us who had a collapsed lung, kidney tumours or facial bumps, and at what age. We will tell you honestly whether a genetic referral makes sense and arrange it if it does. One helpline serves every CION centre.