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Condition report · Cancer

Birt-Hogg-Dubé Syndrome

An inherited condition caused by variants in FLCN that leads to benign skin bumps (fibrofolliculomas), lung cysts that can cause a collapsed lung (pneumothorax), and a raised risk of kidney tumours.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Birt-Hogg-Dubé syndrome

Autosomal dominant

FLCN-related syndrome of fibrofolliculomas, lung cysts with spontaneous pneumothorax, and kidney tumours (often chromophobe or oncocytic).

What a diagnosis changes

Regular kidney MRI from early adulthood, and advice on recognising pneumothorax and on activities such as diving and flying.

Genes analysed

Also known as

BHD

Includes 2 related subtypes ↓
  • Birt-Hogg-Dube syndrome 1
  • Birt-Hogg-Dube syndrome 2
MONDO:0800444MedGen 91070

Familial spontaneous pneumothorax

Autosomal dominant

Inherited tendency to lung collapse without injury, often caused by FLCN variants.

What a diagnosis changes

Awareness of pneumothorax symptoms and specialist advice about diving and air travel; kidney surveillance if an FLCN variant is found.

Genes analysed

Also known as

primary spontaneous pneumothorax; spontaneous pneumothorax

MONDO:0008259OMIM 173600Orphanet 2903MedGen 357445

Limitations

  • The most common FLCN variant lies in a run of eight C bases, where short-read sequencing calls small insertions and deletions less reliably.
  • Deletions of one or more FLCN exons need copy-number analysis and may not be detected.

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