# Birt-Hogg-Dubé syndrome

Source: https://onco.cc/terms/birt-hogg-dube-syndrome/  
OnCo record `birt-hogg-dube-syndrome` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Birt-Hogg-Dubé syndrome is an inherited condition, caused by a fault in the FLCN gene, that causes small skin bumps, lung cysts that can collapse a lung, and a raised risk of kidney cancer. Kidney scans every one to two years from age 20 are recommended to find kidney tumours early.

## Summary

Autosomal dominant; constitutional pathogenic FLCN variants predispose to fibrofolliculomas, pulmonary cysts with spontaneous pneumothorax, and renal cell carcinoma, including hybrid oncocytic and chromophobe types (NCI PDQ). Pooled data from 204 families estimated renal tumour risk to age 70 at 19% in men and 21% in women, lung involvement 87% and 82%, and skin lesions 87% and 78% (Bruinsma 2023).

The 2024 ERN GENTURIS guideline: every FLCN variant should be treated as raising renal tumour risk; renal surveillance from age 20, every one to two years, life-long, preferably by MRI (ultrasound if MRI is unavailable); a multidisciplinary approach; and recommendations for treating skin, lung and kidney manifestations. Evidence for surveillance of other tumours is limited.

## Fields

- Kind: Term
- Last checked: 2026-11-04
- Also known as: BHD; BHD syndrome; FLCN syndrome
- Tags: gap-fill; hereditary

## Notes

- Orphanet ORPHA:122. In the NHS directory it is tested under R224, inherited renal cancer.
- NCI PDQ (kidney cancer genetics) gives a cumulative renal cancer risk of 15 to 30% in BHD.

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Birt–Hogg–Dubé_syndrome
- Geilswijk, Eur J Hum Genet 2024: ERN GENTURIS guidelines for Birt-Hogg-Dubé syndrome: https://doi.org/10.1038/s41431-024-01671-2
- Bruinsma, J Med Genet 2023: updated penetrance estimates in Birt-Hogg-Dubé syndrome: https://doi.org/10.1136/jmg-2022-109104
- NCI PDQ: genetics of kidney cancer (health professional version): https://www.cancer.gov/types/kidney/hp/kidney-genetics-pdq
- Orphanet ORPHA:122: https://www.orpha.net/en/disease/detail/122
- NHS England National Genomic Test Directory, rare and inherited disease, version 9 (spreadsheet): https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-national-genomics-test-directory-v9.xlsx

## Connected records

- cancers: [Renal cell carcinoma](https://onco.cc/cancers/rcc/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/)
- targets: [FLCN](https://onco.cc/targets/flcn/)
- terms: [Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/), [Hereditary papillary renal cell carcinoma](https://onco.cc/terms/hereditary-papillary-renal-cell-carcinoma/)
- drugs: [Helix Hereditary Comprehensive Cancer Panel](https://onco.cc/drugs/helix-hereditary-cancer/), [MyRisk Hereditary Cancer (Myriad Genetics)](https://onco.cc/drugs/myriad-myrisk/), [Quest Comprehensive Hereditary Cancer Panel (66 genes)](https://onco.cc/drugs/quest-hereditary-cancer-panel/)

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