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Clinical Case ReportsWe report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon +5 more
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Gorlin Goltz Syndrome- A Rare Disease Reported In Bangladesh [PDF]
Update Dental College Journal, 2022 Gorlin-Goltz syndrome is an infrequent multisystemic disease with an autosomal dominant trait with complete penetrance and various expressivity. Gorlin Goltz Syndrome is a rare autosomal characterized by an increased predisposition to basal cell ...
Nafisa Afroze +3 more
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A Rare Case of Gorlin-Goltz Syndrome in Children [PDF]
Case Reports in Dentistry, 2019 The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression.
Fernanda Brasil Daura Jorge Boos Lima +6 more
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Gorlin-Goltz Syndrome with Multiple OKC in a 10-Year-Old Child: A Case Report [PDF]
Journal of Multidisciplinary Dental ResearchGorlin-Goltz syndrome is rare multi-system disease, which is, characterized by neoplasms and other developmental abnormalities. 1 It is a hereditary condition inherited as an autosomal dominant trait and caused by abnormalities in the PTCH1 ...
Devadhakshayani Venkatesan +3 more
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Gorlin syndrome - an incidental radiographic detection [PDF]
South African Journal of Radiology, 2011 Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities.
Shishir Ram Shetty +5 more
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Indian Journal of Pathology and Microbiology, 2011 Nevoid cell carcinoma syndrome or Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinoma, multiple keratocyst tumors, and skeletal anomalies.
Cláudio M Pereira +4 more
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Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome
Contemporary Clinical Dentistry, 2015 Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria.
S Manjima +3 more
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Turk Pediatri Ars, 2017 Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification.
Şereflican B +5 more
europepmc +4 more sources
Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study [PDF]
Frontiers in MedicineGorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) is a rare autosomal dominant tumor-predisposition disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, and variable systemic manifestations ...
Linli Liu +5 more
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Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome [PDF]
Current OncologyGorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare, inherited autosomal dominant disorder primarily caused by mutations in the PTCH1 gene, which regulates the Hedgehog signaling pathway. This genetic defect leads
Petko Petrov +5 more
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