Peri-apical Sinus, A Leading Edge of Gorlin–Goltz Syndrome: Case Report

V. Tripathi, A. Nagarajappa, V. Chauhan, K. Chandrashekar, Rohit Mishra, S. Tripathi
{"title":"Peri-apical Sinus, A Leading Edge of Gorlin–Goltz Syndrome: Case Report","authors":"V. Tripathi, A. Nagarajappa, V. Chauhan, K. Chandrashekar, Rohit Mishra, S. Tripathi","doi":"10.9734/BJMMR/2017/32469","DOIUrl":null,"url":null,"abstract":"Gorlin–Goltz syndrome is an autosomal dominant disorder, with mutations in the patched tumor suppressor gene (PTCH1) leading to a wide range of developmental anomalies and neoplasms of cutaneous, dental, osseous, ophthalmic and neurological origin. It commonly presents as multiple keratocystic odontogenic tumors (KCOTs) of the jaws, basal cell carcinomas (BCC) of skin, calcifications of the falx cerebri, ocular hypertelorisms, palmar-plantar pits, bridging of sella turcica and macrocephaly. In addition to these major criteria, more than 100 minor criteria have been described. We hereby, present one such case of Gorlin-Goltz syndrome reported to our dental clinic in Jabalpur, India. A 20 year old male patient presented with complaint of foul fluid discharge Case Study Tripathi et al.; BJMMR, 20(10): 1-8, 2017; Article no.BJMMR.32469 2 from a peri-apical sinus of an over retained, mobile Deciduous Maxillary left canine tooth. Patient’s general physical examination revealed macrocephaly, wide nasal bridge, ocular hypertelorism, numerous naevi and a sebaceous cyst. Panoramic and CT examinations revealed presence of multiple keratocystic odontogenic tumors (KCOT) in both the jaws, bridging of sella turcica, patchy calcifications of falx cerebri and tentorium cerebelli. Though, multi-disciplinary examination revealed no evidence of neoplasm, multi-disciplinary treatment along with genetic counseling was provided to the patient. Lifelong surveillance was offered to prevent future morbidity and mortality associated with this syndrome. This case, illustrates the importance of thorough dental and physical examination including examination of draining oral sinuses, missing teeth, deciduous teeth, macrocephaly and frontal bossing. Additionally, detailed investigations in patients with lesions suggestive of aberrant phenotypic characteristics are mandatory.","PeriodicalId":9249,"journal":{"name":"British journal of medicine and medical research","volume":"19 1","pages":"1-8"},"PeriodicalIF":0.0000,"publicationDate":"2017-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"British journal of medicine and medical research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.9734/BJMMR/2017/32469","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Gorlin–Goltz syndrome is an autosomal dominant disorder, with mutations in the patched tumor suppressor gene (PTCH1) leading to a wide range of developmental anomalies and neoplasms of cutaneous, dental, osseous, ophthalmic and neurological origin. It commonly presents as multiple keratocystic odontogenic tumors (KCOTs) of the jaws, basal cell carcinomas (BCC) of skin, calcifications of the falx cerebri, ocular hypertelorisms, palmar-plantar pits, bridging of sella turcica and macrocephaly. In addition to these major criteria, more than 100 minor criteria have been described. We hereby, present one such case of Gorlin-Goltz syndrome reported to our dental clinic in Jabalpur, India. A 20 year old male patient presented with complaint of foul fluid discharge Case Study Tripathi et al.; BJMMR, 20(10): 1-8, 2017; Article no.BJMMR.32469 2 from a peri-apical sinus of an over retained, mobile Deciduous Maxillary left canine tooth. Patient’s general physical examination revealed macrocephaly, wide nasal bridge, ocular hypertelorism, numerous naevi and a sebaceous cyst. Panoramic and CT examinations revealed presence of multiple keratocystic odontogenic tumors (KCOT) in both the jaws, bridging of sella turcica, patchy calcifications of falx cerebri and tentorium cerebelli. Though, multi-disciplinary examination revealed no evidence of neoplasm, multi-disciplinary treatment along with genetic counseling was provided to the patient. Lifelong surveillance was offered to prevent future morbidity and mortality associated with this syndrome. This case, illustrates the importance of thorough dental and physical examination including examination of draining oral sinuses, missing teeth, deciduous teeth, macrocephaly and frontal bossing. Additionally, detailed investigations in patients with lesions suggestive of aberrant phenotypic characteristics are mandatory.
根尖周围窦,Gorlin-Goltz综合征的前沿:1例报告
Gorlin-Goltz综合征是一种常染色体显性遗传病,斑块肿瘤抑制基因(PTCH1)突变可导致广泛的发育异常和皮肤、牙齿、骨骼、眼科和神经系统起源的肿瘤。它通常表现为颌骨的多发性角化囊性牙源性肿瘤(KCOTs),皮肤基底细胞癌(BCC),大脑镰的钙化,眼远端畸形,掌足底窝,蝶鞍桥接和大头畸形。除了这些主要标准之外,还描述了100多个次要标准。我们在此提出一例Gorlin-Goltz综合征,报告给我们在印度贾巴尔普尔的牙科诊所。1例20岁男性患者以恶臭液体排出主诉。地球物理学报,20(10):1-8,2017;文章no.BJMMR。32469 2来自一颗保留的、活动的乳牙左上颌犬牙的尖周窦。一般体格检查显示:头大、鼻梁宽、眼远视、大量痣及皮脂腺囊肿。全景及CT检查显示双颌多发角化囊性牙源性肿瘤(KCOT),蝶鞍桥接,大脑镰及小脑幕片状钙化。虽然多学科检查没有发现肿瘤的证据,但我们为患者提供了多学科治疗和遗传咨询。提供终身监测以预防与该综合征相关的未来发病率和死亡率。这个病例说明了彻底的牙科和身体检查的重要性,包括检查口窦、缺牙、乳牙、大头畸形和额部隆起。此外,对提示异常表型特征的病变患者进行详细调查是强制性的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信