Burt Hogg-Dube Syndrome


Etiology- cause and origin of disease


  • a genetic mutation of a gene called FLCN
  • the mutation of FLCN causes the making of a protein called follicular to be inhibited
  • follicular acts as a tumor/cyst suppressor
  • tumor or cyst, cell growth and cell division go unchecked


  • source most often comes from the affected individuals parent
  • genetically inherited
  • also a mutated kidney cell can remain dormant until one day the kidney cell decides to divide at a more rapid pace

Pathophysiology- functional changes associated with disease

Changes in Appearance

  • Skin cysts- usually benign(non cancerous)

Fibrofolliculomas: (most common) look like pale skin bumps that are dome shaped and different sizes

Trichodiscomas: look like fibrofolliculomas except are same color as skin

Acrocordons: skin condition that are also called skin tags, tiny stalks of skin tissue that protrude out

  • Skin tumors

Anatomical Changes

  • mutated FLCN genes
  • lung cysts
  • lung tumors
  • kidney cysts
  • kidney tumors

Risk Factors

  • pneumothorax- due to cysts rupturing on the lung and releasing excess air into the pleural cavity
  • pain and tenderness on kidneys, can also lead to fever
  • infections
  • development of more complex cysts can lead up to kidney cancer
  • since the follicular protein will not longer be able to suppress tumor cells and their division, cancer can arise


  • genetic disorder, so it is with you for life
  • Strategy to not transfer to offspring
-preventative strategy is called preimplantation genetic diagnosis along with using in-vitro fertilization. A woman's egg gets taken out and is fertilized in a lab. When embryo reaches a certain point it will the be tested for the disease. Basically genetically modifying sperm and egg so the disease won't go to offspring

Therapeutic treatment

Superficial Treatment (treatment on the surface level)

  • laser treatment
  • surgically removed

Anatomical Treatment (treatment on the tissue level)

  • for kidneys, wait until cysts are 3mm, reason for waiting is because multiple surgeries may become uncomfortable after awhile
  • usually lung cysts do not affect normal lung function, unless the cysts rupture and release air into the pleural cavity. Lung can collapse and air would have to be removed by using a chest tube so the lung can re-inflate.

New Research?

There is no new research for this disease.