TY - CHAP M1 - Book, Section TI - Nevoid Basal Cell Carcinoma Syndrome 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. Y1 - 2014 N1 - T2 - Clinical Genomics: Practical Applications in Adult Patient Care 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/08 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102704404 ER -