Figueira Jéssica Araújo, Batista Fábio Roberto de Souza, Rosso Karina, Veltrini Vanessa Cristina, Pavan Angelo José
Oral Oncology Center, Department of Pathology and Clinical Propedeutics, Araçatuba Dental School, São Paulo State University (UNESP).
Department of Surgery and Integrated Clinic, Aracatuba Dental School, São Paulo State University (UNESP), Araçatuba.
J Craniofac Surg. 2018 Sep;29(6):e530-e531. doi: 10.1097/SCS.0000000000004438.
Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits. It may occur that although GGS syndrome is a well-known condition, only the specific symptom could be observed by different specialists. Therefore, the patient cannot be placed in an always complex clinical panel. The authors introduce an example in this report. In the present case, the patient had NBCCs, OKCs, and probably other signs of GGS since 1998, and has been treated for this conditions separated, without a diagnosis of a syndromic condition. A 54-year-old white woman was referred to the oral medicine service due to cyst located in the right mandibular body. She had history of skin cancer and undergone surgeries and radiotherapies for the lesions treatment, scars on the skin face due to the lesions removed, and a new ulcerated lesion on the back of was diagnosed. In addition, the patient presented frontal and parietal bossing leading to increased cranial circumference, hypertelorism, strabismus, broad base, and mandibular prognathism. To the image examination, skull radiography revealed calcification of the falx cerebri; on chest X-ray bifid rib was observed and spine radiography showed vertebral osteophytes. Panoramic radiograph showed a well-defined bilocular radiolucent image located in posterior and anterior mandibular region. The whole elements induced us to investigate the patient's past medical history, which revealed that since 1998 had the diagnosis of NBCC and OKC. A multidisciplinary approach becomes necessary for the diagnosis and follow-up of patients with GGS, considering the complexity of the clinical manifestations. Therefore, it is of primary importance for dental surgeons and dermatologists to know the signs and symptoms of GGS to perform early diagnosis and to avoid progression of the oral cysts or metastasis of the skin lesions.
戈林-戈尔茨综合征（GGS），也称为痣样基底细胞癌综合征，是一种常染色体显性遗传疾病，具有高外显率和可变表达性。1960年戈林和戈尔茨最初描述的经典三联征由多发性痣样基底细胞癌（NBCC）、颌骨牙源性角化囊肿（OKC）和肋骨分叉组成。1977年，雷纳等人对该三联征进行了修改，对于GGS的诊断，OKC必须与小脑镰钙化或掌跖凹同时出现。可能出现的情况是，尽管GGS综合征是一种广为人知的疾病，但不同专科医生可能仅观察到特定症状。因此，患者无法始终被纳入复杂的临床诊断范畴。作者在本报告中介绍了一个例子。在本病例中，患者自1998年以来患有NBCC、OKC以及可能的其他GGS体征，但一直是针对这些病症分别进行治疗，未被诊断为综合征性疾病。一名54岁的白人女性因右下颌体部囊肿被转诊至口腔内科。她有皮肤癌病史，曾接受手术和放疗以治疗病变，因病变切除面部皮肤留有瘢痕，且背部诊断出一个新的溃疡病变。此外，患者出现额部和顶骨突出导致头围增大、眼距增宽、斜视、宽基底以及下颌前突。影像学检查显示，颅骨X线摄影显示大脑镰钙化；胸部X线片观察到肋骨分叉，脊柱X线片显示椎体骨赘。全景X线片显示下颌前后区域有一个边界清晰的双房透光影。所有这些情况促使我们调查患者的既往病史，结果发现自1998年起患者就被诊断出患有NBCC和OKC。考虑到临床表现的复杂性，对于GGS患者的诊断和随访，多学科方法是必要的。因此，对于牙科医生和皮肤科医生来说，了解GGS的体征和症状以进行早期诊断并避免口腔囊肿进展或皮肤病变转移至关重要。
