Basal Cell Nevus Syndrome in a 9-Year-Old Boy

Adam Taintor, MD


November 02, 2011

Diagnostic Criteria in Basal Cell Nevus Syndrome

Basal cell nevus syndrome is characterized by 5 major components, including multiple basal cell carcinomas, ectopic calcification of the falx cerebri, palmar or plantar pits, odontogenic jaw cysts, and congenital skeletal anomalies, including bifid ribs, cleft lip and palate, macrocephaly, syndactyly, pectus, scoliosis, synostosis, frontal and parietal bossing, hypertelorism, and high scapulae (Sprengel deformity).

Early basal cell carcinomas can be mistaken for skin tags and small melanocytic nevi. Odontogenic cysts are lined with keratinizing epithelium and can develop squamous cell carcinoma. Other features include medulloblastoma, ovarian and myocardial fibromas, rhabdomyomas, meningiomas, cataracts, glaucoma, and colobomas.

Diagnosis[3] of basal cell nevus syndrome requires a thorough family history and careful oral and skin examinations. Serial measurements of head circumference can detect the development of medulloblastoma, which usually occurs between 2 and 3 years of age. Chest and skull radiographs can screen for rib abnormalities and calcification of the falx cerebri. Regular panoramic radiographs of the jaw should be performed to evaluate for odontogenic keratocysts. Pelvic ultrasonography should be performed in women to detect ovarian cysts or fibromas.


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