Description: Basal cell nevus syndrome is an autosomal dominant condition with complete penetrance and variable expressivity. It is characterized by five major components, including multiple nevoid basal cell carcinomas, jaw cysts, congenital skeletal abnormalities, ectopic calcifications, and plantar or palmar pits. Other features include a host of benign tumors, ocular defects, and cleft lip and palate. Guidelines for diagnosis include a family history, careful oral and skin examinations, chest and skull radiographs, panoramic radiographs of the jaw, magnetic resonance imaging of the brain, and pelvic ultrasonography in women. (Am Fam Physician 2002;65:2501-4. 2002 American Academy of Family Physicians.)
GEORGE J. BITAR, M.D., Fairfax, Virginia
CHARLES K. HERMAN, M.D., Albert Einstein College of Medicine, Bronx, New York
MOHAMMED I. DAHMAN, M.D., Ain Shams University, Cairo, Egypt
MARTIN A. HOARD, M.D., University of Virginia, Charlottesville, Virginia
aka Gorlin's Syndrome
