Multistage orthodontic-implantology-prosthetic treatment of a patient diagnosed with hypohidrosis ectodermal dysplasia syndrome with EDAR mutation: a case report

Abstract Hypohidrotic ectodermal dysplasia (HED), caused by mutations in genes such as EDAR, is a genetic disorder characterized by hypodontia, hypotrichosis, and hypohidrosis. Dental anomalies in HED patients lead to functional and aesthetic impairments, necessitating multidisciplinary interventions. This case report highlights the role of combined orthodontic and prosthodontic approaches in managing HED-related dental deficiencies. Case presentation This clinical report describes the multistage treatment of a 32-year-old woman diagnosed with a dominant case of ED with c.175-2(IVS 3)A > G mutation of the EDAR gene based on the patient’s specific clinical manifestations and genetic profile. The patient went for orthodontic treatment due to hypodontia and lack of vertical space. Afterward, implants and crowns were placed following a computer-guided protocol. The patient was satisfied with the results of the treatment in terms of functionality and aesthetics. Conclusions Multidisciplinary dental rehabilitation effectively addresses functional and aesthetic challenges in HED patients. Early diagnosis, genetic testing, and tailored orthodontic-prosthodontic strategies are critical for optimizing outcomes. Clinicians should consider genetic etiologies in patients presenting with hypodontia and ectodermal abnormalities.