Kalogeropoulou Christina, Zampakis Petros, Kazantzi Santra, Kraniotis Pantelis, Mastronikolis Nicholas S
Department of Radiology, University Hospital of Patras, Patras, 26500, Greece.
Cases J. 2009 Nov 25;2:9087. doi: 10.1186/1757-1626-2-9087.
Gorlin-Goltz syndrome is a rare hereditary disease. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis. Because of the different systems affected, a multidisciplinary approach team of various experts is required for a successful management.
We report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries.
Radiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases.
戈林-戈尔茨综合征是一种罕见的遗传性疾病。该综合征的发病机制归因于9号染色体长臂(q22.3-q31)的异常以及人类patched基因(PTCH1基因)的缺失或突变。多发性基底细胞癌(BCC)、牙源性角化囊肿、骨骼异常、掌跖角化过度、大脑镰颅内异位钙化和面部畸形被认为是主要临床特征。诊断基于既定的主要和次要临床及放射学标准,理想情况下通过DNA分析得以证实。由于涉及不同系统,成功管理需要由各领域专家组成的多学科方法团队。
我们报告一例19岁女性病例,该女性遭遇车祸,在进行常规全身计算机断层扫描(CT)以排除创伤性损伤时,发现有戈林-戈尔茨综合征的影像学表现。
该综合征的放射学表现易于在CT扫描中识别,可能促使对疾病进行早期核实,这对于定期随访和提高并存疾病的生存率非常重要。