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GlossaryGorlin Syndrome

genetic disorder causing multiple skin cancers and jaw cysts

Gorlin Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), is a genetic disorder characterized by the development of multiple basal cell carcinomas (a type of skin cancer), jaw cysts, and skeletal abnormalities. It is caused by mutations in the PTCH1 gene, which plays a role in cell growth and development. This syndrome can also lead to other health issues, such as developmental delays and an increased risk of other types of tumors.

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Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene

research Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene

1 citations, September 2011 in “Journal of Dermatology”

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

2 citations, January 2022 in “The Application of Clinical Genetics”

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Anti-Basal Cell Carcinoma Efficacy of a Topical Hedgehog Inhibitor Without Adverse Effects in Gorlin Syndrome Patients in a Phase 2 Randomized Controlled Trial

research Anti-Basal Cell Carcinoma Efficacy of a Topical Hedgehog Inhibitor Without Adverse Effects in Gorlin Syndrome Patients in a Phase 2 Randomized Controlled Trial

1 citations, April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology”

Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.

research Experience with Sonidegib in Patients with Advanced Basal Cell Carcinoma: Case Reports

9 citations, May 2022 in “Drugs in Context”

Sonidegib effectively treated advanced basal cell carcinoma with mild side effects.

research A Non-Cell Autonomous Dermal Hedgehog Signaling Mechanism for Follicular Neoplasia and Induction

April 2023 in “Journal of Investigative Dermatology”

Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.

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