|
KMID : 0032220180300050597
|
|
Annals of Dermatology
2018 Volume.30 No. 5 p.597 ~ p.601
|
|
|
Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
|
|
Hsu Shih-Wen
Lin Chien-Yio
Wang Chuang-Wei
Chung Wen-Hung
Yang Chih-Hsun
Chang Yao-Yu
|
|
|
Abstract
|
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Basal cell nevus syndrome, PTCH protein, Vismodegib
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
   
|