Gorlin-Goltz syndrome: Multidisciplinary approach for early diagnosis of rare disease for better patient outcome

Q4 Medicine

Radiology Case Reports Pub Date : 2025-06-28 DOI:10.1016/j.radcr.2025.06.012

Abdi Alemayehu MD , Suleyman Fantahun MD , Gelana Garoma DMD , Matewos Amare DMD , Firaol Birhanu BSc

{"title":"Gorlin-Goltz syndrome: Multidisciplinary approach for early diagnosis of rare disease for better patient outcome","authors":"Abdi Alemayehu MD , Suleyman Fantahun MD , Gelana Garoma DMD , Matewos Amare DMD , Firaol Birhanu BSc","doi":"10.1016/j.radcr.2025.06.012","DOIUrl":null,"url":null,"abstract":"<div><div>Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent, autosomal dominant, multi-systemic disease characterized by odontogenic keratocysts (OKC) in the jaw, multiple basal cell carcinomas (BCC), ectopic calcifications of the falx and tentorium, and various other skeletal abnormalities. The syndrome can be recognized early in life during dental and dermatology visits or on routine radiographic studies, opening the door for further screening and follow-up of affected individuals and their offspring. We report a case of Gorlin syndrome diagnosed in a 37-year-old female patient with features of hypertelorism after presenting with jaw swelling of 6 months. The diagnosis was made after identifying multiple OKCs, bilamellar calcification of falx and tentorium, bifid spinous process, and bridging sella seen on head computed tomography (CT) scan, fulfilling the diagnostic criteria set for the syndrome. This case highlights the important role radiology has in diagnosing NBCCS and the importance of a multidisciplinary approach to provide a better prognosis for the patient.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 9","pages":"Pages 4768-4773"},"PeriodicalIF":0.0000,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1930043325005552","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent, autosomal dominant, multi-systemic disease characterized by odontogenic keratocysts (OKC) in the jaw, multiple basal cell carcinomas (BCC), ectopic calcifications of the falx and tentorium, and various other skeletal abnormalities. The syndrome can be recognized early in life during dental and dermatology visits or on routine radiographic studies, opening the door for further screening and follow-up of affected individuals and their offspring. We report a case of Gorlin syndrome diagnosed in a 37-year-old female patient with features of hypertelorism after presenting with jaw swelling of 6 months. The diagnosis was made after identifying multiple OKCs, bilamellar calcification of falx and tentorium, bifid spinous process, and bridging sella seen on head computed tomography (CT) scan, fulfilling the diagnostic criteria set for the syndrome. This case highlights the important role radiology has in diagnosing NBCCS and the importance of a multidisciplinary approach to provide a better prognosis for the patient.

查看原文本刊更多论文

Gorlin-Goltz综合征：多学科方法早期诊断罕见疾病以获得更好的患者预后

Gorlin-Goltz综合征，也被称为瘤状基底细胞癌综合征（NBCCS），是一种罕见的、常染色体显性的多系统疾病，其特征为颌骨牙源性角化囊肿（OKC）、多发性基底细胞癌（BCC）、镰部和幕部异位钙化以及各种其他骨骼异常。该综合征可在生命早期牙科和皮肤科就诊或常规放射学检查中发现，为进一步筛查和随访受影响个体及其后代打开大门。我们报告一个37岁的女性患者，在出现下颌肿胀6个月后，被诊断为Gorlin综合征。在头部CT扫描上发现多发OKCs、镰幕双层钙化、棘突双裂、鞍桥，符合本综合征的诊断标准。该病例强调了放射学在诊断NBCCS中的重要作用，以及多学科方法为患者提供更好预后的重要性。

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

Radiology Case Reports Medicine-Radiology, Nuclear Medicine and Imaging

CiteScore

1.10

自引率

0.00%

发文量

1074

审稿时长

30 days

期刊介绍： The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.