The role of the dentist in the diagnosis of ectodermal dysplasia

ABSTRACT Ectodermal dysplasia refers to a hereditary disease that affects the structures derived from the ectoderm. A key feature of this syndrome is multiple missing teeth and teeth with conical shape, affecting the primary and permanent dentition. The pathognomonic facial features make patients very similar to each other. This study aims to report a case in which a 10 years old patient was diagnosed with ectodermal dysplasia during a dental visit; we also discussed the participation of dentists in the diagnostic process of the disease. Caregivers sought dental care, anxious due to several not erupted teeth, and agenesis was confirmed after the panoramic radiograph. Clinically, dry skin, hair and sparse hair, deformed and brittle nails and nose in a “saddle” also called to attention, pointing to a case of ectodermal dysplasia suspect. Thus, the patient and her household were directed to seek medical advice, confirming the diagnosis of the syndrome that supposedly also reached other family members. Since then, the rehabilitation of the patient involved a multidisciplinary treatment planning for prosthetic rehabilitation to treat the agenesis, psycho-pedagogical care support and medical intervention for treatment of hyperopia framework present. The intra-oral characteristics are the primary factors justifying the knowledge of ectodermal dysplasia by dentists, especially the pediatric dentist, who is often the first to diagnose the disease due to the complaint of agenesis reported by parents or patients.

摘要：外胚层发育异常（ectodermal dysplasia）是一类累及外胚层来源组织结构的遗传性疾病。该综合征的典型特征为多颗牙齿缺失与锥形牙，同时累及乳牙列与恒牙列。其特征性的面部外观使得患者之间具有高度相似性。本研究旨在报告1例于牙科诊疗过程中确诊为外胚层发育异常的10岁患者病例，并探讨牙医在该疾病诊断流程中的参与作用。患者家属因患儿多颗牙齿未萌出而焦虑就诊，经全景X线片检查后证实存在牙齿发育不全。临床检查可见皮肤干燥、毛发稀疏、指甲变形脆弱，以及“鞍鼻”外观，均提示外胚层发育异常疑似病例。遂指导患者及其家属前往专科门诊就诊，最终确诊该综合征，且疑似存在家族其他成员受累。此后，患者的康复治疗采用多学科协作诊疗方案，包括针对牙齿发育不全的修复重建治疗、心理教育支持，以及针对现有远视症状的医学干预。口腔内表现是牙医（尤其是儿童牙医）认识外胚层发育异常的关键依据，由于家长或患者常以牙齿发育不全为主诉就诊，儿童牙医往往是首个确诊该疾病的医疗人员。