Epidemiology

• History
  • First Described in 1977

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Physiology

• Autosomal Dominant
  • Germline mutations in the folliculin gene (FLCN), which encodes the protein folliculin, a putative tumor suppressor gene whose function is still under investigation

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Diagnosis

• xxx

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Clinical Manifestations

Dermatologic Manifestations

Dermal Hamartomas

• Clinical
  • Most Commonly on the Head/Neck

Lipoma (see Lipoma)

• Epidemiology: possible association (case reports only)

Melanoma (see Melanoma)

• Epidemiology: possible association (case reports only)

Endocrinologic Manifestations

Parathyroid Adenoma (see xxxx)

• Epidemiology: possible association (case reports only)

Oncocytic Parotid Tumor

• Epidemiology: possible association (case reports only)

Thyroid Tumors

• Epidemiology: possible association (case reports only)

Gastrointestinal Manifestations

Colorectal Cancer (see Colorectal Cancer)

• Epidemiology
  • Although Early Reports Suggested an Association, Colorectal Cancer is Not Currently Believed to Associated with Birt-Hogg-Dube Syndrome

Pulmonary Manifestations

Pulmonary Cysts (see Cystic-Cavitary Lung Lesions)

• Epidemiology
  • Pulmonary Cysts Occur in 70-80% of Cases
• Diagnosis
  • Pulmonary Function Tests (PFT’s)
    • Normal or Mild Obstructive Pattern
• Clinical

Pneumothorax (see Pneumothorax)

• Epidemiology
  • Pneumothorax Occur in 30% of Cases
  • Pneumothorax Usually Occurs Before Age 40
• Physiology
  • xxxx
• Clinical

Renal Manifestations

Renal Cancer (see Renal Cancer)

• Epidemiology
  • Renal Cancer Occurs in 12-34% of Cases
  • Mean Age of Occurrence of Renal Cancer: 50 y/o (range: 30-70 y/o)

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Treatment

• xxx

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References

• Birt-Hogg-Dubésyndrome: diagnosis and management. Lancet Oncol. 2009;10(12):1199 [MEDLINE]