Pickrell Brent B, Nguyen Harrison P, Buchanan Edward P
Michael E. DeBakey Department of Surgery, Division of Plastic Surgery, Baylor College of Medicine, Houston, TX.
J Craniofac Surg. 2015 Oct;26(7):e612-4. doi: 10.1097/SCS.0000000000002113.
Gorlin-Goltz syndrome is an underdiagnosed autosomal dominant disorder with variable expressivity that is characterized by an increased predisposition to tumorigenesis of multiple types. The major clinical features include multiple basal cell carcinomas (BCCs) appearing in early childhood, palmar and plantar pits, odontogenic keratocysts of the oral cavity, skeletal defects, craniofacial dysmorphism, and ectopic intracranial calcification. The authors present the clinical course of a 12-year-old girl presenting with facial asymmetry and pain because of previously undiagnosed Gorlin-Goltz syndrome. Early diagnosis and attentive management by a multidisciplinary team are paramount to improving outcomes in patients with this disorder, and this report serves as a paradigm for maintaining a high clinical suspicion, which must be accompanied by an appropriate radiologic workup.
戈林-戈尔茨综合征是一种常染色体显性疾病，诊断不足，表现度可变，其特征是多种类型肿瘤发生的易感性增加。主要临床特征包括儿童早期出现的多发性基底细胞癌（BCC）、掌跖凹陷、口腔牙源性角化囊肿、骨骼缺陷、颅面畸形和异位颅内钙化。作者介绍了一名12岁女孩因先前未诊断出的戈林-戈尔茨综合征而出现面部不对称和疼痛的临床过程。多学科团队的早期诊断和精心管理对于改善该疾病患者的预后至关重要，本报告作为一个范例，强调要保持高度的临床怀疑，并必须进行适当的影像学检查。
