Kumar Naveen N, Padmashree S, Jyotsna T R, Shastry Shilpa Padar
Departments of Oral Medicine and Radiology, Vydehi Institute of Dental Sciences and Research Centre, Bengaluru, Karnataka, India.
Contemp Clin Dent. 2018 Jul-Sep;9(3):478-483. doi: 10.4103/ccd.ccd_96_18.
Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder with a high degree of penetrance and variable expressivity. It is a rare phakomatosis characterized by multiple odontogenic keratocysts (OKCs), bifid ribs, and other abnormalities. The incidence of the GGS is estimated at 1 in 57,000-1 in 256,000 in the general population. The OKC is frequently the presenting manifestation of this syndrome. We report a case of a 25-year-old male patient, presenting with a swelling in the right side of the face which was diagnosed as GGS by correlating the clinical findings, histological findings, and evaluating the various tools of imaging. In the case of GGS, it is of great importance to make an early diagnosis since the severity of complications such as maxillofacial deformities related to the jaw cysts can be avoided.
戈林-戈尔茨综合征（GGS）是一种常染色体显性疾病，具有高度的外显率和可变的表现度。它是一种罕见的错构瘤病，其特征为多发牙源性角化囊肿（OKC）、肋骨分叉及其他异常。在普通人群中，GGS的发病率估计为57000分之一至256000分之一。OKC常常是该综合征的首发表现。我们报告一例25岁男性患者，其右侧面部肿胀，通过结合临床发现、组织学发现并评估各种影像学检查手段，被诊断为GGS。对于GGS而言，早期诊断非常重要，因为这样可以避免诸如与颌骨囊肿相关的颌面畸形等并发症的严重程度。
