Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor

We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the 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 inhibi...

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Bibliographic Details
Published in:	Annals of dermatology Vol. 30; no. 5; pp. 597 - 601
Main Authors:	Hsu, Shih-Wen, Lin, Chien-Yio, Wang, Chuang-Wei, Chung, Wen-Hung, Yang, Chih-Hsun, Chang, Yao-Yu
Format:	Journal Article
Language:	English
Published:	Korea (South) The Korean Dermatological Association; The Korean Society for Investigative Dermatology 01-10-2018 대한피부과학회
Subjects:	Case Report 피부과학 PTCH protein Basal cell nevus syndrome Vismodegib
Online Access:	Get full text
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Summary:	We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the 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.
ISSN:	1013-9087 2005-3894
DOI:	10.5021/ad.2018.30.5.597