lunedì 28 luglio 2008
Extensive dural calcifications on head CT (that patient had also poor dentition with evidence of multiple dental caries with a cystic lesion in the left mandible, which demonstrates a narrow zone of transition and benign appearing characteristics and a mass in superficial soft-tissues of hand overlying 5th MCP joint.
Diagnosis: Gorlin-Goltz syndrome
When multiple odontogenic keratocysts are present in a young person, the diagnosis of basal cell nevus syndrome (also known as Gorlin-Goltz Syndrome) should be considered. Approximately 5% of patients with odontogenic cysts have this syndrome. Associated findings of basal cell nevus syndrome include calcification of the falx cerebri, midface hypoplasia, frontal bossing, mental retardation, bifid ribs, and multiple basal cell carcinomas. Basal cell nevus syndrome is an autosomal dominant disease with high penetration. Early identification of these patients is important for improving their quality of life and survival.
Radiologic overview of the diagnosis
Key radiographic findings in basal cell nevus syndrome include odontogenic keratocysts (as described above), rib anomalies, vertebral anomalies, dural calcifications, and short metacarpals. These patients are at increased risk for medulloblastoma and cardiac and ovarian fibromas.