Skip to main content

Health condition

Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome links three seemingly unrelated findings - small facial skin bumps, lung cysts with collapsed-lung episodes, and kidney tumours - through one gene, FLCN, with kidney surveillance the priority once diagnosed.

Why trust this guide

  • 01

    Editorial team

    Written by our editorial team from the UK sources listed on each page.

  • 02

    Sourced from guidance

    Checked against current NHS and UK specialist society guidance at the time of review.

  • 03

    Current for 2026

    Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.

Key facts

The essentials at a glance.

Which gene and test confirm it, who should be tested in the family, and which specialist to see.

  • Caused by FLCN gene variants; autosomal dominant

  • Features: fibrofolliculomas (pale facial papules from the twenties), pulmonary cysts with recurrent pneumothorax in up to a third, and kidney tumours (often bilateral, hybrid oncocytic-chromophobe types) in roughly 15-30%

  • Kidney surveillance: MRI every 1-3 years, with intervention typically at 3 cm - preserving kidney tissue is the guiding principle

  • A spontaneous pneumothorax, especially recurrent or with basal lung cysts, should prompt thinking of BHD

Understanding the condition

What it is and what happens next.

What causes it, how it is confirmed, and the testing and specialist routes available in the UK.

What it is and how it presents

BHD is chronically underdiagnosed because its three faces present to three different specialists who rarely compare notes: a dermatologist sees whitish papules across the nose and cheeks, a respiratory team treats a young adult's second collapsed lung, a urologist finds a renal mass - and each event, alone, seems sporadic. The connecting thread is folliculin, and finding it matters chiefly for the kidneys: BHD tumours are usually indolent and multifocal, ideal for surveillance and nephron-sparing surgery timed by size rather than radical operations.

Testing, surveillance and specialist care

FLCN testing confirms the syndrome from a blood sample and opens cascade testing to relatives, each entering MRI-based renal surveillance with counselling; practical extras include pneumothorax advice (a lower threshold for definitive pleural intervention, and awareness around flying and diving) and skin options for those bothered by the facial papules. NHS clinical genetics services carry some of the longest waits in the health service, often many months for a first appointment, whereas private genetic testing and a specialist review can typically be arranged within around two weeks.

Seeing a specialist

Who to see, and how quickly you can be seen.

The specialist for this condition is usually a clinical geneticist coordinating renal surveillance. Your GP can refer you on the NHS, or you can arrange a private consultation directly.

A quiet reminder

This guide is for information, not medical advice.

Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any emergency symptoms.

Frequently asked

Common questions about Birt-Hogg-Dubé syndrome.

Quick, plain-English answers to what people ask us most.

  • What is birt-Hogg-Dubé syndrome?

    Birt-Hogg-Dubé syndrome is a recognised medical condition that can affect people in different ways, ranging from mild and easily managed to more significant, depending on the underlying cause, how early it is picked up, and how it is treated. Getting a clear diagnosis is usually the first step towards the right management plan.

  • What causes birt-Hogg-Dubé syndrome?

    Birt-Hogg-Dubé syndrome can arise from a combination of factors, which may include genetics, lifestyle, environmental exposures, other underlying health conditions, or simply the normal effects of ageing on the body. In many cases no single cause is found, and several factors act together. A clinician can help identify which factors are most relevant in an individual case.

  • What are the symptoms of birt-Hogg-Dubé syndrome?

    Symptoms of birt-Hogg-Dubé syndrome vary from person to person and depend on how severe the condition is and which structures are affected. Some people notice symptoms gradually over weeks or months, while others experience a more sudden onset. Because symptoms can overlap with other conditions, a proper assessment is important to reach an accurate diagnosis rather than relying on symptoms alone.

  • Is birt-Hogg-Dubé syndrome serious or dangerous?

    Most cases of birt-Hogg-Dubé syndrome are manageable, especially when identified and treated early, but severity varies from mild and self-limiting to more significant, depending on individual circumstances. Left unassessed, some cases can lead to complications or a longer-term impact on daily life. If you are worried about your symptoms, it is always worth getting them checked rather than waiting.

  • Is birt-Hogg-Dubé syndrome hereditary or genetic?

    Some cases of birt-Hogg-Dubé syndrome have a genetic component and can run in families, while others occur without any family history at all. Having a relative with the condition may modestly increase your own risk, but it does not mean you will definitely develop it yourself. If you are concerned about a family history, mention this to your doctor, as it may occasionally influence screening or monitoring.

  • Can birt-Hogg-Dubé syndrome be cured, reversed or prevented?

    Outlook varies with birt-Hogg-Dubé syndrome: some cases resolve completely with treatment, others improve significantly but need ongoing management, and a smaller number become a long-term condition to be controlled rather than cured. Prevention strategies, such as addressing modifiable risk factors, can reduce your chances of developing it or of it recurring, but cannot guarantee against it in every case.

  • How is birt-Hogg-Dubé syndrome treated?

    Treatment for birt-Hogg-Dubé syndrome is tailored to the individual and depends on severity, underlying cause and personal circumstances. Options can range from simple lifestyle measures, monitoring and conservative treatment through to medication, specialist procedures or surgery in more significant cases. A specialist assessment helps identify which combination of treatments is most appropriate for you.

  • How long does birt-Hogg-Dubé syndrome last?

    The duration of birt-Hogg-Dubé syndrome varies considerably: some people recover within days or weeks, while others live with a more persistent or recurring condition that needs ongoing management. Response to treatment, how early it is started, and individual factors all influence the timescale. Your clinician can give you a more personalised estimate once your specific circumstances are known.

  • When is surgery needed for birt-Hogg-Dubé syndrome?

    Surgery is not usually the first option for birt-Hogg-Dubé syndrome and is generally reserved for cases where conservative treatment has not worked, symptoms are severe, or there is a significant structural problem that needs to be corrected directly. The decision depends on your specific findings, symptoms and how they are affecting your life. A specialist consultation is the best way to establish whether surgery is being considered too early, or should be considered sooner rather than later.

  • When should I see a doctor about birt-Hogg-Dubé syndrome, and how quickly can I be seen privately?

    It is worth seeing a doctor about birt-Hogg-Dubé syndrome if symptoms are persistent, getting worse, or affecting your daily life, rather than waiting to see if they settle on their own. NHS routine referrals to a specialist can currently take anywhere from around 20 to 45 weeks or more depending on your area, whereas a private consultant can typically see you within about 2 weeks. Getting an earlier assessment can help clarify the diagnosis and start the right treatment sooner.