Overview
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited condition caused by changes in the FLCN gene. It was first described by doctors Birt, Hogg, and Dubé in 1977. The syndrome mainly affects the skin, lungs, and kidneys. People with BHD develop small, harmless skin growths on the face, neck, and upper body called fibrofolliculomas. They also tend to develop air-filled cysts in the lungs, which can sometimes burst and cause a collapsed lung (pneumothorax). Most importantly, BHD raises the risk of developing kidney tumors, which can be cancerous in some cases. BHD is passed down through families in an autosomal dominant pattern, meaning just one changed copy of the FLCN gene is enough to cause the condition. Symptoms usually appear in adulthood, often in a person's 30s or 40s. Because the signs can be subtle at first, many people go years without a diagnosis. Treatment focuses on managing each feature of the syndrome separately. Kidney tumors are monitored closely and removed when they reach a certain size. Lung cysts are watched with imaging, and a collapsed lung is treated as a medical emergency. Skin growths are usually harmless but can be removed for cosmetic reasons. Regular surveillance is the cornerstone of care, and with proper monitoring, many people with BHD live full, healthy lives.
Also known as:
Key symptoms:
Small white or skin-colored bumps on the face, neck, and upper chest (fibrofolliculomas)Air-filled cysts in the lungs (pulmonary cysts)Collapsed lung (spontaneous pneumothorax)Kidney tumors or cystsShortness of breath or chest pain during a lung collapseSmall skin tagsWhite patches on the skin (acrochordons)Kidney cancer (chromophobe renal cell carcinoma or hybrid oncocytic tumors)Fatigue if kidney function is affectedRecurrent episodes of collapsed lung
Clinical phenotype terms (21)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventNational Cancer Institute (NCI)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Birt-Hogg-Dubé syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Birt-Hogg-Dubé syndrome.
Community
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Start the conversation →Latest news about Birt-Hogg-Dubé syndrome
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How often should I have kidney and lung imaging, and what type of scans do you recommend?,At what size or stage would you recommend treating a kidney tumor, and what are my surgical options?,Should my children and siblings be tested for the FLCN gene change?,Are there any activities I should avoid because of my lung cysts, such as scuba diving or certain sports?,What are the warning signs of a collapsed lung, and what should I do if I think I am having one?,Are there any clinical trials or new treatments I should know about?,Should I see a genetic counselor to help my family understand the risks?
Common questions about Birt-Hogg-Dubé syndrome
What is Birt-Hogg-Dubé syndrome?
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited condition caused by changes in the FLCN gene. It was first described by doctors Birt, Hogg, and Dubé in 1977. The syndrome mainly affects the skin, lungs, and kidneys. People with BHD develop small, harmless skin growths on the face, neck, and upper body called fibrofolliculomas. They also tend to develop air-filled cysts in the lungs, which can sometimes burst and cause a collapsed lung (pneumothorax). Most importantly, BHD raises the risk of developing kidney tumors, which can be cancerous in some cases. BHD is passed down through families i
How is Birt-Hogg-Dubé syndrome inherited?
Birt-Hogg-Dubé syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Birt-Hogg-Dubé syndrome typically begin?
Typical onset of Birt-Hogg-Dubé syndrome is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Birt-Hogg-Dubé syndrome?
Yes — 1 recruiting clinical trial is currently listed for Birt-Hogg-Dubé syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Birt-Hogg-Dubé syndrome?
4 specialists and care centers treating Birt-Hogg-Dubé syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.