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Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.
J Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFConservative treatment of pathological fracture after multiple odontogenic keratocyst surgery: a case report and literature analysis.
Hua Xi Kou Qiang Yi Xue Za Zhi
February 2025
Dept. of Oral and Maxillofacial Surgery, Zibo Central Hospital, Zibo 255036, China.
Pathological fractures after jaw cyst surgery are rare clinically but are a serious complication. Once a pathological fracture occurs, treatment time and economic costs increase, and doctors face difficulty in handling it. This article reports a case of a patient with mandibular pathological fractures after multiple odontogenic keratocyst surgery of the jaw.
View Article and Find Full Text PDFThe Prevalence and Diagnostic Patterns of Oral and Maxillofacial Lesions: A Seven-Year, Retrospective, Single-Center Cone Beam Computed Tomography and Histopathology Study in Saudi Arabia.
J Clin Med
December 2024
Department of Oral and Maxillofacial Diagnostic Sciences, College of Dentistry, Taibah University, Medina 41477, Saudi Arabia.
To determine the prevalence of oral and maxillofacial lesions among patients at King Abdulaziz University from January 2016 to December 2022. : This cross-sectional observational study included patients diagnosed with oral and maxillofacial intra-bony lesions based on radiological findings and confirmed by histopathological examination. The lesions were classified according to the fourth edition of the World Health Organization Classification of Head and Neck Tumors.
View Article and Find Full Text PDFCongenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.
J Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
View Article and Find Full Text PDFA new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report.
Medicine (Baltimore)
November 2024
Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
Article Synopsis
- - The study focuses on Nevoid basal cell carcinoma syndrome (NBCCS), a rare condition linked to high rates of basal cell carcinoma, potentially caused by mutations in the PTCH1 gene.
- - Researchers identified a new nonsense mutation in the PTCH1 gene in a mother and her daughter, both of whom also had ovarian mature teratomas.
- - Treatment outcomes showed persistent issues for both individuals, underscoring the complex effects of the mutation and related health challenges.
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