A case of orthognathic surgery for jaw deformity with hypohidrotic ectodermal dysplasia

Abstract

Ectodermal dysplasia (ED) is a congenital disease that causes dysplasia in organs derived from the ectoderm. Hypohidrotic ectodermal dysplasia (HED) is the most common form of ED and is characterized by the cardinal features of hypohidrosis, hypotrichosis, and hypodontia. However, the disease rarely results in jaw deformities. Here, we report the case of an 18-year-old male patient who underwent orthognathic surgery under general anesthesia to treat a jaw deformity associated with HED. The patient presented with multiple missing teeth, hypotrichosis, and hypohidrosis, and a family history of similar symptoms. The patient was subsequently diagnosed with X-linked HED. After preoperative corrective orthodontic treatment, we performed Le Fort I osteotomy, bilateral sagittal split ramus osteotomy, and genioplasty. The patient’s body temperature was carefully monitored during the procedure due to his hypohidrosis and impaired body temperature regulation. At 2 years and 9 months after the first surgical intervention, there were notable improvements with regard to the degree of dental occlusion, height of the face, and protrusion of the chin. The patient was satisfied with the esthetic and functional outcomes of treatment. Surgeons and anesthesiologists should be aware of the treatment challenges for HED hypodontia and assure that patients understand the comprehensive treatment plans.