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Birt-Hogg-Dube syndrome

MIM.135150 17p11.2

Saturday 27 November 2004

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

Etiology

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

References

- Pulmonary Cysts of Birt-Hogg-DubĂ© 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