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Did you mean Gorlin-Goltz Syndrome?

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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research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia

April 2023 in “Curēus”

A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.

research Androgenetic Alopecia in a Patient with Klinefelter Syndrome: Case Report and Literature Review

December 2020 in “Skin appendage disorders”

Finasteride may effectively treat hair loss in Klinefelter Syndrome patients.

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 Porokeratotic Eccrine and Hair Follicle Nevus: A Report of Two Cases and Review of the Literature

5 citations, January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia”

Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.

research Structure and Development of the Skin and Cutaneous Appendages

1 citations, July 2016 in “Elsevier eBooks”

Understanding skin structure and development helps diagnose and treat skin disorders.

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