Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor.
- Author:
Shih Wen HSU
1
;
Chien yio LIN
;
Chuang Wei WANG
;
Wen Hung CHUNG
;
Chih Hsun YANG
;
Yao Yu CHANG
Author Information
- Publication Type:Case Report
- Keywords: Basal cell nevus syndrome; PTCH protein; Vismodegib
- MeSH: Basal Cell Nevus Syndrome*; Cicatrix; Exons; Fathers; Hedgehogs; Humans; Taiwan
- From:Annals of Dermatology 2018;30(5):597-601
- CountryRepublic of Korea
- Language:English
- 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.
