Gorlin Goltz Syndrome – Case Series and Review of Literature.
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2019, Vol 18, Issue 4
Abstract
The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness It is characterized by disorders affecting multiple systems including skeletal, cutaneous, ophthalmic, reproductive, and nervous systems.. Gorlin syndrome is associated with germlinemutations in components of the Sonic Hedgehog pathway, including Patched1 (PTCH1) and Suppressor of fused (SUFU). The purpose of this present article is to describe the clinical, radiological, and histopathological findings in three cases of Gorlin Goltz syndrome diagnosed in our department, and to discuss the role of gene mutation analysis and circumstances to avoid in order to prevent primary manifestations.
Authors and Affiliations
Dr. Arun Devaraj, Dr. Sudha . S, Dr. Sujatha Varma, Dr. Navajeevraj MN, Dr. Suchithra KS
Keywords
Related Articles
- EP ID EP574616
- DOI 10.9790/0853-1804147686.
- Views 73
- Downloads 0
Teaching critical appraisal of drug promotional brochures on ability of medical students to identify violations of existing WHO Guidelines
OBJECTIVES: To determine the effect of training of appraisal of drug advertisement in medical students. MATERIALS & METHODS:-A pre knowledge testing of the Interns and 2nd year MBBS students on ability to identify violat...
Enchondroma of the hand-Treated by curettage and bone grafting
Background: Enchondroma of the hand is a rare benign tumor composed of mature cartilage. The treatment for this tumor type is usually surgery. Surgery includes curettage, curettage with bone grafting or bone cement. Mate...
Association between Chronic Generalized Periodontitis and Hyperlipidemia
OBJECTIVES: The objectives of the study were (1)To assess serum lipid levels among healthy subjects. (2) To assess serum lipid levels among subjects with chronic generalized periodontitis. (3) To compare the serum lipid...
“Efficacy of Total Pleural Fluid Bilirubin And Ratio to Serum Levels, Pleural Fluid Cholesterol And Total Protein Level in Diagnosing Pleural Effusion Exudates And Transudates And Its Correlation with light’s Criteria”
Objectives: To evaluate the usefulness of Total Pleural fluid Bilirubin and its ratio to serum Bilirubin levels, Pleural fluid Cholesterol and Pleural fluid Total Protein level in classifying pleural effusions as exudate...
Sacral Hiatus: An Anatomical Study
Sacrum is a triangular bone formed by the fusion of five vertebrae. The sacral hiatus is the deficiency in the lower part of the dorsal wall of the sacral canal resulting from the failure of the fusion of most commonly t...