粘多糖症(MPS)和粘脂代谢II和III(MLII和III)通常表现为口面(进行性)异常,这可能会对生活质量产生重大影响。然而,因为这些患者有多种躯体健康问题,口面部问题在临床实践中很容易被忽视,关于这一主题的现有文献仅包括病例报告,小案例系列,和小型队列研究。这项系统评价的目的是更深入地了解MPS口面异常的性质和程度,MLII,和III。对以前发表的所有解决MPS口面异常的文章进行了系统回顾,MLII,进行了III。包括临床研究和病例报告。结果是描述的口面异常,细分为面部异常,上颌骨,下颌骨,软组织,牙齿,和闭塞。搜索了57篇文章,描述340例患者的口面特征。MPS的所有亚型都存在面部异常,MLII,III,由增厚的嘴唇组成,面部发育不全,高拱形腭,髁突发育不良,冠状增生,巨舌,牙龈增生,厚的牙囊,牙质囊肿,牙齿畸形,牙釉质缺陷,打开咬。面部异常存在于MPS的所有亚型中,MLII,和III。由于口面异常可能会引起投诉,口腔健康评价应作为临床常规护理的一部分。
Mucopolysaccharidoses (MPSs) and mucolipidosis II and III (ML II and III) often manifest with orofacial (progressive) abnormalities, which may have a major impact on quality of life. However, because these patients have multiple somatic health issues, orofacial problems are easily overlooked in clinical practice and available literature on this topic solely consists of case reports, small case series, and small cohort studies. The aim of this systematic review was to gain more insight in the nature and extent of orofacial abnormalities in MPS, ML II, and III. A systematic review of all previously published articles addressing orofacial abnormalities in MPS, ML II, and III was performed. Both clinical studies and case reports were included. Outcome was the described orofacial abnormalities, subdivided into abnormalities of the face, maxilla, mandible, soft tissues, teeth, and occlusion. The search resulted in 57 articles, describing orofacial features in 340 patients. Orofacial abnormalities were present in all subtypes of MPS, ML II, and III, and consisted of thickened lips, a hypoplastic midface, a high-arched palate, hypoplastic condyles, coronoid hyperplasia, macroglossia, gingival hyperplasia, thick dental follicles, dentigerous cysts, misshapen teeth, enamel defects, and open bite. Orofacial abnormalities are present in all subtypes of MPS, ML II, and III. As orofacial abnormalities may cause complaints, evaluation of orofacial health should be part of routine clinical care.