Panoramic dental radiograph (A) in a young girl shows an expansile lucent lesion oriented along the long axis of the mandible with smooth, corticated margins. Several supernumerary, unerupted, and displaced teeth are identified. Non-contrast CT of the head (B) shows calcification of the falx cerebri; additional findings (not shown) included colpocephaly, agenesis of the corpus collosum and bridging of the sella turcica. A coned-down radiograph of the left lower chest (C) demonstrates bifid morphology of left anterior ribs.
Gorlin syndrome, also known as Gorlin-Goltz or Basal Cell Nevus syndrome, is a phakomatosis with an autosomal dominant inheritance pattern. Patients present with multiple basal cell carcinomas, various craniofacial and musculoskeletal anomalies, and an increased incidence of additional neoplasms. Typical craniofacial anomalies include odontogenic keratocysts (A), cleft lip, macrocephaly, bilamellar calcification of the falx cerebri (B), and uncommonly, agenesis of the corpus callosum. Musculoskeletal anomalies include bifid ribs (C), additional rib anomalies (fusion, agenesis), and shortened 4th metacarpals. Lastly, neoplasms which have an increased incidence in patients with Gorlin syndrome include medulloblastomas, ovarian fibromas, and cardiac fibromas. Treatment depends on associated anomalies, and is typically supportive. The severity of the basal cell carcinoma(s) tends to determine the patient’s overall prognosis.
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Dolewski DA, Zarka AI. At the Viewbox: Gorlin Syndrome. J Am Osteopath Coll Radiol. 2012;1(3):35.