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Three cases of basal cell nevus syndrome
( Chan Seong Park ) , ( Jongeun Lee ) , ( Hyun Jeong Byun ) , ( Youngkyoung Lim ) , ( Ji-hye Park ) , ( Jong Hee Lee ) , ( Dong-youn Lee ) , ( Joo-heung Lee ) , ( Jun-mo Yang )
UCI I410-ECN-0102-2018-500-004087241
This article is 4 pages or less.

Basal cell nevus syndrome (BCNS), also called Gorlin-Goltz syndrome, is a genetic disease with protein patched homolog 1 (PTCH1) gene mutation. BCNS is multisystemic disorder with a high penetrance and variable expressiveness and inherited in an autosomal dominant pattern. Individuals with BCNS typically begin to develop basal cell carcinomas (BCC) during adolescence or early adulthood and also develop benign tumors of the jaw, called keratocystic odontogenic tumors. The patients have higher risk than the general population of developing other tumors such as medulloblastomas and ovarian fibromas. Also, patient could develop pitting in the skin of the palms and soles and skeletal abnormalities involving the spine, ribs, or skull. In our cases, three patients diagnosed as BCNS. Patient 1, a 25-year old man with history of medulloblastomas and keratocystic odontogenic tumors, developed multiple BCCs at least seven sites of scalp. Patient 2, a 62-year old man, showed palmar pitting and had developed two BCCs. Patient 3, a 34-year old man, a son of the patient 3, also showed palmar pitting and had developed two BCCs. According to the clinical diagnostic criteria for BCNS from “Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS)”, all three patients diagnosed as BCNS. Herein, we report three cases of BCNS with variable clinical expressions.

[자료제공 : 네이버학술정보]
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