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( Shih-wen Hsu ),( Chien-yio Lin ),( Chuang-wei Wang ),( Wen-hung Chung ),( Chih-hsun Yang ),( Yao-yu Chang ) 대한피부과학회 2018 Annals of Dermatology Vol.30 No.5
We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the PTCH1 gene (c.3450C>G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog inhibitor in Taiwan. The lesions regressed gradually, with scar formation, and were subsequently removed via a wide excision. Further details are provided below. (Ann Dermatol 30(5) 597∼601, 2018)