Birt–Hogg–Dubé Syndrome

Figure 2.23 A: Peutz–Jeghers syndrome (Courtesy of Dr. Paul Getz) B: Birt–Hogg–Dube syndrome* C: Birt–Hogg–Dube syndrome* (*Reprint from Morgan MB, Smoller BR, Somach SC. Deadly Dermatologic Diseases. New York, NY: Springer; 2007)
Figure 2.23
A: Peutz–Jeghers syndrome
(Courtesy of Dr. Paul Getz)
B: Birt–Hogg–Dube syndrome*
C: Birt–Hogg–Dube syndrome*
(*Reprint from Morgan MB,
Smoller BR, Somach SC.
Deadly Dermatologic Diseases.
New York, NY: Springer; 2007
)
(Figure 2.23B, C)
  • AD, BHD gene (encodes folliculin)
  • Multiple fibrofolliculomas, trichodiscomas, acrochordons on the face, scalp, neck, and upper trunk
  • Associated with renal cell carcinoma, medullary carcinoma of thyroid, spontaneous pneumothorax (multiple pulmonary cysts)
   
 
Birt HOGG Dube – think of a hog with rough textured skin (because of fibrofolliculomas and trichodiscomas)