Birt–Hogg–Dubé syndrome

Renal cell carcinoma, unclassified in a case of Birt–Hogg–Dubé syndrome. H&E stain. (WC)

Renal cell carcinoma, unclassified in a case of Birt–Hogg–Dubé syndrome. H&E stain. (WC)

Birt–Hogg–Dubé syndrome, also Hornstein-Birt-Hogg-Dubé syndrome, is constellation of findings due to a FLCN (folliculin) gene mutation. It is abbreviated BHD syndrome.

Features

BHD syndrome is characterized by:

• Skin lesions:
  • Fibrofolliculoma.
  • Trichodiscoma.
  • Acrochordon.
• Renal tumours:
  • Chromophobe renal cell carcinoma - most common.
  • Renal oncocytoma.
  • Renal hybrid oncocytic/chromophobe tumour.
• Variable penetrance (autosomal dominant).

Note:

• May be seen with a mix of oncocytic renal tumours - known as renal oncocytosis.

See also

• Hereditary renal cell carcinoma.
  • Von Hippel-Lindau syndrome.
  • Tuberous sclerosis-associated renal cell carcinoma.