Overview
Familial multiple fibrofolliculoma, also known as Birt-Hogg-Dubé syndrome (BHD), is a rare inherited condition that mainly affects the skin, kidneys, and lungs. It is caused by changes (mutations) in a gene called FLCN, which normally helps control cell growth. When this gene does not work properly, certain types of benign (non-cancerous) skin growths can develop, along with an increased risk of kidney tumors and lung cysts. The most visible signs of this condition are small, smooth, flesh-colored bumps on the face, neck, and upper body. These bumps are called fibrofolliculomas, trichodiscomas, and acrochordons (skin tags). They usually appear in adulthood and are not painful, but they can be a cosmetic concern. People with this condition also have a higher-than-average chance of developing cysts in the lungs, which can sometimes cause a collapsed lung (pneumothorax). Kidney tumors — both benign and cancerous — can also occur and need regular monitoring. There is no cure for Birt-Hogg-Dubé syndrome, but the condition can be managed effectively with regular check-ups, skin treatments for cosmetic concerns, and surveillance imaging to catch kidney or lung problems early. With proper monitoring, many people with this condition live full and healthy lives.
Key symptoms:
Small, smooth, flesh-colored bumps on the face and neck (fibrofolliculomas)Skin tags (acrochordons), especially on the neck and armpitsLung cysts (air-filled pockets in the lungs)Collapsed lung (pneumothorax), sometimes recurringKidney tumors (can be benign or cancerous)Multiple small white bumps on the upper body (trichodiscomas)Shortness of breath if a lung cyst rupturesChest pain from a collapsed lung
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)
Treatments
No FDA-approved treatments are currently listed for Familial multiple fibrofolliculoma.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial multiple fibrofolliculoma at this time.
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Specialists
View all specialists →No specialists are currently listed for Familial multiple fibrofolliculoma.
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 Familial multiple fibrofolliculoma.
Community
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Caregiver 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 imaging of my kidneys and lungs, and what type of scan is best for me?,Should my children and siblings be tested for the FLCN gene mutation?,What activities should I avoid to reduce my risk of a collapsed lung?,Are there any clinical trials or new treatments I should know about?,What are the warning signs that a kidney tumor needs treatment rather than just monitoring?,Can the skin growths be treated, and will they come back after treatment?,Who else should be part of my care team, and how often should I see each specialist?
Common questions about Familial multiple fibrofolliculoma
What is Familial multiple fibrofolliculoma?
Familial multiple fibrofolliculoma, also known as Birt-Hogg-Dubé syndrome (BHD), is a rare inherited condition that mainly affects the skin, kidneys, and lungs. It is caused by changes (mutations) in a gene called FLCN, which normally helps control cell growth. When this gene does not work properly, certain types of benign (non-cancerous) skin growths can develop, along with an increased risk of kidney tumors and lung cysts. The most visible signs of this condition are small, smooth, flesh-colored bumps on the face, neck, and upper body. These bumps are called fibrofolliculomas, trichodiscoma
How is Familial multiple fibrofolliculoma inherited?
Familial multiple fibrofolliculoma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial multiple fibrofolliculoma typically begin?
Typical onset of Familial multiple fibrofolliculoma is adult. Age of onset can vary across affected individuals.