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INTRODUCTION: Epidermolysis bullosa (EB) is a rare genetic disorder characterized by skin fragility and blister formation. The phenotypic presentation is broad with four major types, being Recessive Dystrophic EB (RDEB) the most severe, including oral anomalies such as severe microstomia, ankyloglossia, vestibule obliteration and occlusal anomalies, turning orthodontic treatment into a challenge. AIM: This case report aims to present the comprehensive treatment of a patient with severe RDEB, including periodontal surgery, orthodontic fixed braces with mini-screws and oral rehabilitation with anterior veneers. CASE REPORT: A 27-year-old female patient with severe RDEB received orthodontic treatment in the upper jaw to improve malalignment and anterior crossbite. After 13 months of treatment with fixed appliances, miniscrews were placed in the anterior segment to intrude and procline the upper incisors. Oral surgery was performed to increase the vestibule depth of the upper lip. Once edge-to-edge occlusion was obtained, anterior veneers were placed to improve aesthetic and stabilize occlusion, especially with the lack of posterior support. DISCUSSION: The multidisciplinary treatment approach, involving orthodontic treatment, periodontal surgery and oral rehabilitation, played a crucial role in achieving favorable results. This case highlights the successful use of miniscrews as a viable orthodontic approach for patients with severe RDEB.
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RESUMEN: El Síndrome de Down es una condición genética que se identifica por la presencia de un grado variable de discapacidad cognitiva, rasgos y características físicas singulares, que también repercuten a nivel estomatognático. El objetivo de este reporte de caso es reflejar los desafíos terapéuticos que podemos enfrentar para lograr un tratamiento integral en estos pacientes. Madre de paciente consulta por apiñamiento dentario. Presenta enfermedades sistémicas asociadas al Síndrome de Down, alteraciones sensoriales, gingivitis generalizada, lesiones de caries, anomalías dentomaxilares y fibroma traumático en flanco lingual. El tratamiento incluyó adaptación a la atención odontológica, odontología preventiva y restauradora, periodoncia y ortodoncia. Luego de 25 meses de tratamiento, se logró el alta integral, debiendo modificar los objetivos del tratamiento y el manejo terapéutico ortodóncico en diversas ocasiones. Es posible realizar tratamientos integrales en pacientes con Síndrome de Down, considerando una buena adaptación, objetivos alcanzables y trabajo en equipo multidisciplinario.
ABSTRACT: Down Syndrome is a genetic condition identified by the presence of a variable degree of cognitive disability and unique physical characteristics and traits, which also have an impact on the stomatognathic system. The aim of this case report is to report the therapeutic challenges that we can face to achieve a comprehensive treatment. Patient's mothers consult for dental crowding. The patient presents systemic diseases associated with Down Syndrome, sensory anomalies, generalized gingivitis, dental caries lesions, maxillary dental anomalies, and traumatic fibroma in the tongue. The treatment included adaptation to dental care, preventive and restorative dentistry, periodontics and orthodontics. After 25 months of treatment, comprehensive discharge was achieved, with modifications in the treatment objectives and orthodontic therapeutic management in several occasions. Comprehensive treatment in patients with Down Syndrome is possible, considering a good adaptation to the treatment, achievable objectives and multidisciplinary teamwork.