Ann Dermatol.  2018 Oct;30(5):597-601. 10.5021/ad.2018.30.5.597.

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

• Hsu SW
• Lin CY
• Wang CW
• Chung WH
• Yang CH
• Chang YY

• KMID: 2419752
• DOI: http://doi.org/10.5021/ad.2018.30.5.597

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

MeSH Terms

Basal Cell Nevus Syndrome*
Cicatrix
Exons
Fathers
Hedgehogs
Humans
Taiwan

Figure

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  Fig. 1 (A) Many black plaques of various sizes, with rolled borders and atrophic and/or ulcerative centers mainly on the head and neck and prominent frontal bossing. (B) The skull anteroposterior view demonstrated macrocephaly, calcification of the falx cerebri, cleft palate and one osteolytic changes in the mandible secondary to odontogenic cyst. (C) The family pedigree of our cases.

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  Fig. 2 (A, B) After a strategic 56-day vismodegib treatment, the largest basal cell carcinoma over right popliteal fossae regressed and improved palmar pittings.

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  Fig. 3 Mutation identification showed there was a c.3450 C>G mutation on the 21th exon of the PTCH1 gene. All of the three patients have the same results, which is consistent with basal cell nevus syndrome.

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