Living with Birt-Hogg-Dube syndrome 1
A rare genetic condition affecting the skin and lungs, with a higher chance of kidney tumors.
Understanding Birt-Hogg-Dube syndrome 1
People often have many noncancerous (benign) skin growths, mainly on the face, neck, and upper chest. They usually first appear in a person's twenties or thirties and grow larger and more numerous over time. Lung cysts and a collapsed lung (pneumothorax) are more likely. There is a higher risk of kidney tumors, which may be cancerous or not.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, these are the main features:
- Noncancerous skin growths on the face, neck, and chest
- Cysts in the lungs
- Collapsed lung (pneumothorax)
- Kidney tumors
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists, kidney specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in FLCN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Kidney Cancer Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Kidney Cancer Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Kidney Cancer Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FLCN gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bhd1; hornstein-knickenberg syndrome
Patient organizations
- Kidney Cancer AssociationBirt-Hogg-Dube syndrome 1 · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Birt-Hogg-Dube syndrome 1.
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