背景:接合性大疱性表皮松解症(JEB)是四种主要类型的EB之一,由编码lucida层蛋白质的基因中的遗传变体引起。所有这种主要类型的EB患者均表现为综合征性发育不良性不全症(AI),有凹坑和裂缝或全身性增生表型。严重形式的AI与口腔健康相关的生活质量(QoL)受损有关,主要是由于牙齿美学不良。颌面部异常,口腔疼痛。
目的:介绍从20个月到18岁的JEB和AI患者的综合牙科治疗,包括复杂的正畸和数字口腔康复。
方法:一名患有中间JEB(纯合子c.3228+1G>LAMB3变种)的男性患者自20个月大以来一直在智利大学的特殊护理牙科诊所的护理下。他复杂的牙科需求包括原发性和永久性牙列的结构牙釉质异常(发育不良的全身性AI),严重的牙齿拥挤与上颌压迫,第三类骨骼模式,异国情调(#45),和牙龈炎.
结果:儿科牙科护理包括口腔卫生教育和预防策略(预防和氟化物应用),保持牙列没有龋齿。由于AI,严重的牙齿敏感性阻碍了适当的口腔卫生,需要使用临时聚碳酸酯和金属牙冠进行早期康复。16岁时,患者开始正畸治疗。上颌扩张是通过将两个连续的微型植入物辅助快速腭扩张(MARPE)粘合到腭中的四个微型植入物上进行的。完成正畸治疗后,金属多托槽(持续时间19个月),进行了基于数字微笑设计的最终口腔康复,并对所有前牙和前磨牙进行了长石冠。
结论:与JEB相关的重度全身发育不良综合征AI患者受益于长期预防性口腔护理。复杂的正畸技术,比如MARPE,和多括号可以成功。数字微笑设计提供了一种确定的口腔康复技术,改善口腔功能,美学,和QoL。
BACKGROUND: Junctional epidermolysis bullosa (JEB) is one of the four major types of EB caused by genetic variants in the genes coding the proteins of the lamina lucida. All patients with this major type of EB present syndromic hypoplastic amelogenesis imperfecta (AI), with either a pits and fissures or generalized hypoplastic phenotype. Severe forms of AI are associated with compromised oral health-related quality of life (QoL) mostly due to poor dental aesthetics, dentofacial anomalies, and oral pain.
OBJECTIVE: To present the comprehensive dental treatment of a patient with JEB and AI from the age of 20 months until the age of 18 years, including complex orthodontics and digital oral rehabilitation.
METHODS: A male patient with intermediate JEB (homozygous c.3228+1G>A LAMB3 variant) has been under the care of the special care dentistry clinic of the University of Chile since the age of 20 months. His complex dental needs include structural enamel abnormalities in primary and permanent dentition (hypoplastic generalized AI), severe dental crowding with maxillary compression, Class III skeletal pattern, agenesia (#45), and gingivitis.
RESULTS: Pediatric dental care included oral hygiene education and preventive strategies (prophylaxis and fluoride applications), maintaining the dentition free of caries. Due to AI, severe tooth sensitivity hindered proper oral hygiene and required early rehabilitation with temporary polycarbonate and metallic crowns. At the age of 16, the patient began
orthodontic treatment. A maxillary expansion was performed with two consecutive mini-implant assisted rapid palate expansion (MARPE) bonded to four mini-implants in the palate. After finishing
orthodontic treatment metallic multibrackets (duration 19 months), a definitive oral rehabilitation based on digital smile design with feldspathic crowns of all anterior teeth and premolars was performed.
CONCLUSIONS: Patients with severe generalized hypoplastic syndromic AI associated with JEB benefit from long-term preventive oral care. Complex
orthodontic techniques, such as MARPE, and multibrackets can be successfully. Digital smile design provides a definitive oral rehabilitation technique improving oral function, aesthetics, and QoL.