Birt-Hogg-Dube syndrome

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Birt-Hogg- Dubé syndrome (BHDS)[1]

  • Hair follicle hamartomas
    • Fibrofolliculomas
    • Perifollicular fibromas
    • Angiofibroma
  • Kidney tumours - in between 5 to 35% depending on series, usually the chromophobe variant of renal cell carcinoma, although hybrid tumours with oncocytoma are described.
  • Spontaneous pneumothorax - 50-fold increased risk
  • Lung cysts - about 80%

Due to mutations in FLCN gene with autosomal dominant transmission[2].

References

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