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

Shih-Wen Hsu|Chien-yio Lin|Chuang-Wei Wang|Wen-Hung Chung|Chih-Hsun Yang|Yao-Yu Chang
대한피부과학회 (Korean Dermalogical Association)|2018.10|Annals of Dermatology|제30권 제5호|pp. 597-601

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참고문헌

키워드

Basal cell nevus syndromePTCH proteinVismodegib
주제분류피부과학

초록

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.

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.

참고문헌 (13)

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