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.