Exploring the Changing Diagnostic Criteria of Gorlin-Goltz Syndrome: A Case Report.

IF 1.8 4区 医学 Q3 ONCOLOGY
Sahith Kumar Shetty, Vidya G Doddawad, Shyam Sundar, Shivananda S
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引用次数: 0

Abstract

Gorlin-Goltz syndrome, also known as Gorlin syndrome, basal cell nevus syndrome, and nevoid basal cell carcinoma syndrome, is an autosomal dominant genetic disorder. Its hallmark is an early onset of basal cell carcinoma. Additionally, the syndrome is characterized by a spectrum of distinct clinical attributes encompassing oral, skeletal, ophthalmic, neurological, and developmental aberrations. This condition arises due to anomalies in the Hedgehog signaling pathway, leading to constant pathway activity and uncontrolled growth of tumor cells. Early identification of the disorder through available diagnostic methods and clinical and radiological findings is crucial for accurate diagnosis, which subsequently leads to the formulation of an effective treatment regimen. The purpose of this case report is to discuss the role of a dentist in early detection based on various author-prescribed criteria and the need for a multidisciplinary approach to the treatment of patients with this syndrome.

探讨Gorlin-Goltz综合征诊断标准的变化:1例报告。
Gorlin- goltz综合征,又称Gorlin综合征、基底细胞痣综合征、痣基底细胞癌综合征,是一种常染色体显性遗传疾病。其特征是基底细胞癌的早期发病。此外,该综合征的特点是一系列不同的临床特征,包括口腔、骨骼、眼科、神经和发育异常。这种情况的发生是由于Hedgehog信号通路的异常,导致通路持续活性和肿瘤细胞不受控制的生长。通过现有的诊断方法以及临床和放射学结果及早发现这种疾病对于准确诊断至关重要,从而制定有效的治疗方案。本病例报告的目的是讨论牙医在早期发现的作用,基于各种作者规定的标准和需要多学科的方法来治疗这种综合征的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Oncology-New York
Oncology-New York 肿瘤学-肿瘤学
CiteScore
1.60
自引率
0.00%
发文量
69
审稿时长
6-12 weeks
期刊介绍: Although laboratory and clinical cancer research need to be closely linked, observations at the basic level often remain removed from medical applications. This journal works to accelerate the translation of experimental results into the clinic, and back again into the laboratory for further investigation. The fundamental purpose of this effort is to advance clinically-relevant knowledge of cancer, and improve the outcome of prevention, diagnosis and treatment of malignant disease. The journal publishes significant clinical studies from cancer programs around the world, along with important translational laboratory findings, mini-reviews (invited and submitted) and in-depth discussions of evolving and controversial topics in the oncology arena. A unique feature of the journal is a new section which focuses on rapid peer-review and subsequent publication of short reports of phase 1 and phase 2 clinical cancer trials, with a goal of insuring that high-quality clinical cancer research quickly enters the public domain, regardless of the trial’s ultimate conclusions regarding efficacy or toxicity.
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