Birt-Hogg-Dubé Syndrome

Int J Dermatol. 2005 Aug;44(8):668-73. doi: 10.1111/j.1365-4632.2004.02095.x.

Abstract

Birt-Hogg-Dubé Syndrome is an autosomal dominant condition characterized by a triad of fibrofolliculomas, trichodiscomas, and acrochordons. Since the first description in 1977, many conditions have been described in association with its clinical triad. Recent epidemiological studies have shown a significant association between the occurrence of lesions in the fibrofolliculoma/trichodiscoma category with renal neoplasms and pneumothoracies. The BHD protein folliculin had recently been identified. The histological findings of the clinical lesions are distinctive. We report a patient with a history of melanoma who presented for routine surveillance. Facial lesions in the fibrofolliculoma/trichodiscoma category were identified. Diagnostic work-up revealed concomitant multinodular goiter, pulmonary cyst, and renal mass. The patient later developed pneumothorax. Clinical manifestations, histological findings, associations, management, and a review of the Birt-Hogg-Dubé Syndrome are discussed.

Publication types

  • Case Reports

MeSH terms

  • Carcinoma, Renal Cell / complications
  • Facial Neoplasms / complications
  • Facial Neoplasms / pathology*
  • Facial Neoplasms / therapy
  • Humans
  • Kidney Neoplasms / complications
  • Male
  • Middle Aged
  • Neoplasms, Multiple Primary / complications
  • Neoplasms, Multiple Primary / pathology
  • Neoplasms, Multiple Primary / therapy
  • Pneumothorax / complications
  • Skin Neoplasms / complications
  • Skin Neoplasms / pathology*
  • Skin Neoplasms / therapy
  • Syndrome