Basal cell nevus syndrome (BCNS) is an autosomal dominantly inherited condition first described in 1960 by Dr. Gorlin and Dr. Goltz . BCNS is known by several other names including nevoid basal cell carcinoma syndrome, basal cell carcinoma nevus syndrome, Gorlin syndrome, and Gorlin-Goltz syndrome. Although BCNS demonstrates a high degree of penetrance, the diagnosis can be challenging due to its variable expressivity even within families [2, 3] and the age-dependent appearance of certain traits associated with this disorder. Some of the more frequent and characteristic features of BCNS include multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, palmar and/or plantar pits, calcified falx cerebri, and facial dysmorphism . Other clinical features found in association with BCNS include neoplasms such as medulloblastoma, ovarian fibroma, and cardiac fibromas [4–7].
KeywordsBasal Cell Carcinoma Skeletal Abnormality Facial Dysmorphism Hedgehog Signaling Pathway Nevoid Basal Cell Carcinoma Syndrome
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