Birt-Hogg-Dubé Syndrome

Etiologia e mecanismo
  • AD;
  • FLCN gene mutation
    • Codes of a protein called folliculin, a tumor suppressor that interacts with the mTOR pathway (possibly paving the way for some treatmen, but topical application of rapamycin did not alter appearance of facial fibrofolliculomas)
 
Apresentação clínica
  • Fibrofolliculomas, trichodiscomas, acrochordons (4th/5th decade)
  • Multiple renal carcinomas (15%)
    • Chromophobe renal carcinoma, oncocytoma
  • Medullary thyroid carcinoma
  • Pulmonary cysts (90%), spontaneous pneumothorax (30%)
  • Digestive polyps
 
Diagnóstico
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