February 2026 in “Frontiers in Medicine” In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.
The study reported that vismodegib showed significant effectiveness in treating basal cell carcinoma, particularly in patients with Gorlin-Goltz syndrome or locally advanced BCC, but also highlighted substantial side effects, requiring careful management to prevent treatment resistance and maintain remission.
December 2020 in “Skin appendage disorders” This study describes a 17-year-old male with Klinefelter syndrome who developed androgenetic alopecia and showed a good response to treatment with oral minoxidil, finasteride, and low-level light therapy.