Cassol Daniele Viera, Viera Thiago Isidro, Souza Ivete Pomarico Ribeiro, Pomarico Luciana
Gen Dent. 2019 Jul-Aug;67(4):e1-e6.
The hereditary condition known as ectodermal dysplasia (ED) is characterized by the absence of or a defect in 2 or more ectodermally derived structures such as skin, nails, hair, sweat glands, or teeth. Patients with this disorder usually present with reduced salivary gland function and absence of some or all teeth, which compromises orofacial function and development. In addition, children with ED usually experience difficulty in social interactions because of their appearance. This article reviews previously published case reports pertaining to ED and describes oral rehabilitation with removable partial dentures (RPDs) in a 5-year-old girl diagnosed with X-linked hypohidrotic ED, which presented as hypodontia. An orthodontic expander screw was inserted in the maxillary prosthesis to correct the patient's crossbite, and periodic recall examinations were scheduled to monitor the effects of the patient's growth on occlusion and fit of the prosthesis. The child was monitored for 12 months, during which she exhibited significant improvement in physiologic function, appearance, and social behavior. Because negative esthetic, functional, and psychological consequences are associated with this condition, dentists must be knowledgeable about its common oral manifestations.
遗传性疾病外胚层发育不全（ED）的特征是两种或更多种外胚层来源的结构（如皮肤、指甲、毛发、汗腺或牙齿）缺失或存在缺陷。患有这种疾病的患者通常唾液腺功能减退，部分或全部牙齿缺失，这会损害口面部功能和发育。此外，患有ED的儿童通常因外貌而在社交互动中遇到困难。本文回顾了先前发表的与ED相关的病例报告，并描述了为一名诊断为X连锁低汗型ED且表现为牙齿发育不全的5岁女孩使用可摘局部义齿（RPD）进行口腔修复的情况。在上颌修复体中插入正畸扩弓螺丝以纠正患者的反咬合，并安排定期复诊检查以监测患者生长对修复体咬合和贴合度的影响。对该儿童进行了12个月的监测，在此期间她在生理功能、外貌和社交行为方面都有显著改善。由于这种疾病会带来负面的美学、功能和心理影响，牙医必须了解其常见的口腔表现。
