Basal cell nevus syndrome is an autosomal dominant condition with complete

Basal Cell Nevus Syndrome: Guidelines for Early Detection

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

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. Copyright© 2002 American Academy of Family Physicians.)
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Basal cell nevus syndrome, also known as Gorlin's syndrome, was first reported by Jarisch and White in 1894. The spectrum of disease associated with this syndrome was described in detail by Gorlin in 1960.1 The prevalence is estimated to be 1 per 60,000 persons.2 This syndrome is characterized by five major components as well as other features that may be present (Table 1).3,4 Basal cell nevus syndrome is an autosomal dominant condition with complete penetrance and variable expressivity.5,6 The gene responsible has been localized to chromosome 9q22.1-q31.7,8