Department of Oral Surgery, Pomeranian Medical University in Szczecin, Szczecin, Poland.
Med Sci Monit. 2012 Sep;18(9):RA145-53. doi: 10.12659/msm.883341.
Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends to be a multisystemic disorder, familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis. It will also enable them to apply adequate methods of treatment and secondary prevention. In this study, we present symptoms of the disease, its diagnostic methods and currently used treatments. We searched 2 scientific databases: Medline (EBSCO) and Science Direct, for the years 1996 to 2011. In our search of abstracts, key words included nevoid basal cell carcinoma syndrome and Gorlin-Goltz syndrome. We examined 287 studies from Medline and 80 from Science Direct, all published in English. Finally, we decided to use 60 papers, including clinical cases and literature reviews. Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder. Prevention is better than cure.
Gorlin-Goltz 综合征是一种罕见的遗传性疾病，表现出不同的外显率。它以常染色体显性遗传方式遗传。该病的主要特征包括多发性基底细胞癌、颌骨囊肿、手掌和足底凹陷、骨骼异常和其他发育缺陷。由于该病倾向于多系统疾病，因此各种医学专家对其表现的熟悉程度可能会缩短提供诊断所需的时间。这也使他们能够应用适当的治疗和二级预防方法。在本研究中，我们介绍了该病的症状、诊断方法和目前使用的治疗方法。我们在 1996 年至 2011 年期间在 2 个科学数据库中进行了搜索：Medline（EBSCO）和 Science Direct。在我们对摘要的搜索中，关键词包括痣样基底细胞癌综合征和 Gorlin-Goltz 综合征。我们检查了 Medline 的 287 项研究和 Science Direct 的 80 项研究，所有研究均以英文发表。最后，我们决定使用 60 篇论文，包括临床病例和文献综述。Gorlin-Goltz 综合征患者需要特别的多学科医疗护理。各医学专业的专业人员对该综合征的多种和难以诊断的症状的了解至关重要。该疾病的后果对患者的健康和生命构成威胁。因此，早期诊断为有效预防和治疗该疾病提供了机会。预防胜于治疗。
