Birt-Hogg-Dube syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons. Concurrent internal tumors, such as colonic polyps and renal carcinoma, have been described in patients with BHD.

Synopsis

 pulmonary lesions

• pulmonary cysts (pulmonary basilar cysts)
• pleuropulmonary blebs
• spontaneous pneumothorax

 tumor predisposition

• acrochordon (skintag)
• hair follicle hamartomas
  • fibrofolliculoma
  • trichodiscoma (tumor of the hair disc)
  • perifollicular fibroma

• colonic polyps
• renal tumors
  • renal oncocytomas
  • chromophobe renal cell carcinomas

Etiology

 Birt-Hogg-Dube syndrome (BHD) is caused by mutation in the gene FLCN encoding folliculin (MIM.607273)

References

 Butnor KJ, Guinee DG Jr. Pleuropulmonary pathology of Birt-Hogg-Dube syndrome. Am J Surg Pathol. 2006 Mar;30(3):395-9. PMID: #16538061#

 Schmidt LS. Birt-Hogg-Dube syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med. 2004 Dec;4(8):877-85. PMID: #15579035#

 Okimoto K, Kouchi M, Matsumoto I, Sakurai J, Kobayashi T, Hino O. Natural history of the Nihon rat model of BHD. Curr Mol Med. 2004 Dec;4(8):887-93. PMID: #15579036#