Department of Oral Medicine and Radiology, Institute of Dental Studies and Technologies, Kadrabad, India.
Department of Oral Pathology, Institute of Dental Studies and Technologies, Kadrabad, India.
J Med Life. 2022 Apr;15(4):579-586. doi: 10.25122/jml-2021-0288.
Mucopolysaccharidosis VI is a genetic disorder affecting multiple organs with sundry clinical presentations. The main etiological factor reflects the disturbances in mucopolysaccharide metabolism leading to deposition of acid mucopolysaccharide in various tissues. The pathognomonic features of the disease include a large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of the skull, and long anteroposterior dimension with unerupted dentition, dentigerous cyst-like follicles, condylar defects, and gingival hyperplasia. An 18-year-old boy with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is described in this article, emphasizing the oral manifestations and radiographic illustration of lesions in the jaws. It also emphasizes the essential role of cone-beam computed tomography to identify and analyze multicentric pathologies in the jaws.
黏多糖贮积症 VI 是一种影响多个器官的遗传疾病，具有多种临床表现。主要的病因因素反映了黏多糖代谢的紊乱，导致酸性黏多糖在各种组织中的沉积。该病的特征性表现包括大头、短颈、角膜混浊、张口伴有大舌、颅骨增大以及未萌出牙、齿状突样滤泡、髁突缺损和牙龈增生的前后长径增大。本文描述了一名 18 岁的 Maroteaux-Lamy 综合征（黏多糖贮积症 VI 型）患者，强调了颌骨病变的口腔表现和影像学表现。还强调了锥形束 CT 在识别和分析颌骨多中心病变中的重要作用。
