Bhargava Aksha, Singh Vikas Kunwar, Tiwari Ruchika, Gaikwad Prashansa, Bharti Lovely
Department of Oral and Maxillofacial Surgery, MGDCH, MGUMST, Jaipur, Rajasthan, India.
Department of Orthodontics and Dentofacial Orthopedics, Datta Meghe Institute of Higher Education and Research, Wardha, Maharashtra, India.
Ann Maxillofac Surg. 2025 Jan-Jun;15(1):98-101. doi: 10.4103/ams.ams_2_24. Epub 2025 Mar 18.
The importance of a comprehensive and interdisciplinary approach in early diagnosis and managing patients with rare genetic disorders must be highlighted appropriately. This case report delves into the complex clinical presentation of a patient with Gorlin-Goltz Syndrome, emphasizing the multifaceted challenges encountered during diagnosis, treatment, and long-term management and involves a detailed exploration of the patient's clinical history, encompassing cutaneous manifestations, skeletal anomalies, and neurological findings radiological imaging also plays a pivotal role in guiding towards the diagnostic process and forming the basis for a multidisciplinary approach for management of the patient.
A previously treated case for pain in lower left tooth region, patient concerns for pain and pus discharge from same region.
After thorough clinical and radiographic findings patient was diagnosed with Gorlin goltz syndrome having multiple cysts.
Cyst enucleation of all cysts done under General Anaesthesia along with application of carnoy's solution.
Postoperatively regular follow-up revealed satisfactory bone healing with no signs of recurrence and patient was educated concerning the syndrome.
TAKE-AWAY LESSONS: Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder characterized by a constellation of developmental abnormalities and an elevated predisposition to specific malignancies, particularly basal cell carcinoma. This case report describes the way of navigating the complexities of this syndrome and helps inform future diagnostic strategies, treatment modalities, and genetic counseling practices for individuals affected by it.
必须适当强调采用全面和跨学科方法对罕见遗传疾病患者进行早期诊断和管理的重要性。本病例报告深入探讨了一名患有戈林-戈尔茨综合征患者的复杂临床表现，强调了在诊断、治疗和长期管理过程中遇到的多方面挑战，并详细探究了患者的临床病史，包括皮肤表现、骨骼异常和神经学检查结果。放射影像学在指导诊断过程以及形成患者多学科管理方法的基础方面也发挥着关键作用。
该患者曾因左下牙区域疼痛接受过治疗，此次关注同一区域的疼痛和脓液排出。
经过全面的临床和影像学检查，患者被诊断为患有多个囊肿的戈林-戈尔茨综合征。
在全身麻醉下对所有囊肿进行囊肿摘除术，并应用卡诺伊溶液。
术后定期随访显示骨愈合良好，无复发迹象，并对患者进行了关于该综合征的教育。
戈林-戈尔茨综合征，也称为痣样基底细胞癌综合征（NBCCS），是一种罕见的常染色体显性疾病，其特征是一系列发育异常以及患特定恶性肿瘤，尤其是基底细胞癌的易感性增加。本病例报告描述了应对该综合征复杂性的方法，并有助于为受其影响的个体提供未来的诊断策略、治疗方式和遗传咨询实践参考。
