Multidisciplinary Department of Medical-Surgical and Odontostomatological Specialties, University of Campania "Luigi Vanvitelli", 80121 Naples, Italy.
Department of Biomedicine and Prevention, University of Rome "Tor Vergata", 00100 Rome, Italy.
Medicina (Kaunas). 2023 Mar 28;59(4):670. doi: 10.3390/medicina59040670.
: Gaucher disease (GD) is a lysosomal storage disorder with the genetic autosomal recessive transmission. Bone involvement is a prevalent finding in Gaucher disease. It causes deformity and limits daily activities and the quality of life. In 75% of patients, there is bone involvement. This review aims to evaluate the principal findings in the jaw by a Cone-beam computed tomography (CBTC) and X-ray orthopantomography; : PubMed, Web of Science, Lilacs and Scopus were systematically searched until 31 December 2022. In addition, a manual search was performed using the bibliography of selected articles and a Google Scholar search. Clinical studies were selected that considered principal radiographic findings in radiography in a group of patients affected by GD. : Out of 5079 papers, four studies were included. The main findings are generalized rarefaction and enlarged narrow space, anodontia. : The exact mechanism of bone manifestation is probably due to the infiltration of Gaucher cells in the bone marrow and, consequently, the destruction of bone architecture. All long bones are a potential means of skeletal manifestation. The jaw is more affected than the maxilla, and the principal features are cortical thinning, osteosclerosis, pseudocystic lesions, mental demineralization, flattening in the head of the condyle, effacement of anatomical structures, thickening of maxillary sinus mucosa. The dentist plays a crucial role in diagnosing and treating these patients. Sometimes the diagnosis can be made by a simple panoramic radiograph. All long bones are affected, and the mandible is particularly involved.
戈谢病(GD)是一种溶酶体贮积症,具有遗传的常染色体隐性遗传方式。骨骼受累是戈谢病的常见表现。它会导致畸形,限制日常活动和生活质量。在 75%的患者中存在骨骼受累。本综述旨在通过锥形束 CT(CBTC)和 X 线全景片评估颌骨的主要发现;:通过系统检索 PubMed、Web of Science、Lilacs 和 Scopus,直到 2022 年 12 月 31 日。此外,还使用选定文章的参考文献和 Google Scholar 搜索进行了手动搜索。选择了考虑 GD 患者组放射摄影中主要放射学发现的临床研究。:在 5079 篇论文中,有 4 项研究被纳入。主要发现是普遍稀疏和扩大的狭窄空间、无牙。:骨骼表现的确切机制可能是由于戈谢细胞浸润骨髓,进而破坏骨结构。所有长骨都是骨骼表现的潜在手段。下颌骨比上颌骨更容易受到影响,主要特征是皮质变薄、骨硬化、假囊性病变、下颌骨矿化不足、髁突头部变平、解剖结构消失、上颌窦黏膜增厚。牙医在诊断和治疗这些患者方面发挥着至关重要的作用。有时,通过简单的全景片即可做出诊断。所有长骨均受累,下颌骨尤其受累。