Birt-Hogg-Dube syndrome

Definition: Birt-Hogg-Dube syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons, and concurrent internal tumors, such as colonic polyps and renal carcinoma.

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

Synopsis

 pulmonary lesions

• pulmonary cysts (pulmonary basilar cysts - pulmonary cysts of the Birt-Hogg-Dube syndrome)
• 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

Images

 fibrofolliculoma

• https://twitter.com/GregHoslerMDPhD/status/718863580368609281

Etiology

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

References

 Pulmonary Cysts of Birt-Hogg-Dubé Syndrome: A Clinicopathologic and Immunohistochemical Study of 9 Families. Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N, Moritani S, Mizuno H, Nagashima Y, Nagahama K, Hiroshima K, Yoshino I, Nomura F, Aoki I, Nakatani Y. Am J Surg Pathol. 2012 Apr;36(4):589-600. PMID: 22441547

 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