RT Book, Section A1 McDonald, Kimberly R. A1 Friedrich, Christopher A. A2 Murray, Michael F. A2 Babyatsky, Mark W. A2 Giovanni, Monica A. A2 Alkuraya, Fowzan S. A2 Stewart, Douglas R. SR Print(0) ID 1102704404 T1 Nevoid Basal Cell Carcinoma Syndrome T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessmedicine.mhmedical.com/content.aspx?aid=1102704404 RD 2024/03/28 AB Disease summary:Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by multiple basal cell carcinomas and odontogenic keratocysts.A characteristic appearance including facial milia, frontal bossing, wide nasal bridge, coarse facial features, high-arched eyebrows and palate, mandibular prognathism, and macrocephaly may be present. Palmar and plantar pits, skeletal abnormalities of the ribs, and vertebrae and ectopic calcification of the falx cerebri are often found and useful in diagnosis.Individuals are also at increased risk for developing other cysts and neoplasms including medulloblastoma and cardiac and ovarian fibromas.Hereditary basis:NBCCS is inherited in an autosomal dominant fashion, with approximately 70% to 80% of patients receiving an affected gene from a parent and the remaining 20% to 30% representing de novo mutations. Penetrance is near complete.Differential diagnosis:While other inherited disorders such as susceptibility to basal cell carcinoma (BCC), Bazex syndrome and Rombo syndrome should be considered in the setting of multiple BCCs, NBCCS should be highly suspected in cases of odontogenic keratocysts or early-onset medulloblastoma, see Table 113-1.