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GlossaryGorlin Syndrome (Nevoid Basal Cell Carcinoma 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 A Review of Hedgehog Inhibitors Sonidegib and Vismodegib for Treatment of Advanced Basal Cell Carcinoma

25 citations , January 2021 in “Journal of drugs in dermatology”

Sonidegib and vismodegib are similarly effective for advanced basal cell carcinoma, but sonidegib might have a slightly better safety profile.

research Nevoid Basal Cell Carcinoma Syndrome: Histologic Observations on Cutaneous Lesions

3 citations , March 1966 in “Archives of Dermatology”

Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.

research Studies on Basal Cell Carcinoma: Role of Human Homologue of Drosophila Patched Gene

November 1997 in “Open Archive (Karolinska Institutet)”

PTCH gene mutations contribute to basal cell carcinoma development.

research Nevoid Basal Cell Carcinoma Syndrome

61 citations , March 1966 in “Archives of Dermatology”

Nevoid basal cell carcinomas start in the skin and hair follicles.

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