Craniofacial radiographic featuresof ectodermal dysplasia. Case report

Abstract

Ectodermal dysplasia (ED) is a group of disorders which affect structures of ectodermal origin, where hypoplasia  or  aplasia  of  the  tissues  is  observed.  The  most  common  phenotypes  are  hypohidrotic  and  hydrotic.  The  most  prevalent  is  hypohidrotic  ED  and  is  caused  by  mutations  in  EDA1  gene  on  the  X  chromosome.  Clinical  features  of  hypohidrotic  ED  include  hypohidrosis,  hypotrichosis,  and  hypodontia.  Hydrotic ED clinically presents hypotrichosis, nail dystrophy, and palmoplantar hyperkeratosis. At the intraoral level, hypohidrotic ED shows dental anomalies of shape and number, with an enamel more prone to caries and mechanical damage. Also, there may be atrophic inflammation of the mucosa, xerostomy, and  sometimes  dysphagia.  Among  the  radiographic  signs,  dental  anomalies  and  atrophy  of  alveolar  processes are observed. A 14-year-old male patient with ED attends to the Faculty of Dentistry of the University of Talca for a clinical evaluation. Panoramic radiography showed the absence of multiple teeth, alteration  of  coronary  and  root  shape  in  the  teeth.  Lateral  cephalometric  radiography  showed  atrophy  of  the  alveolar  process  both  in  maxilla  and  mandible,  decreased  lower  third,  mandibular  retrusion  and  atrophy,  maxillary  retrusion  and  maxillary  incisive  proclination.  While  bi-dimensional  imaging  studies  contribute to an adequate diagnosis, three-dimensional imaging studies facilitate planning and treatment in patients with ED. The severe facial and dental malformations of the present case affect the masticatory and aesthetic function causing the treatment to be complex, requiring a multidisciplinary approach.