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 2.23B, 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) | | | | |
|
|