Orofacial manifestations of hypohidrotic ectodermal dysplasia: Three cases in one family
Marcelo Mendes Pinto, Camila Haddad Leal Godoy, Thays Almeida Alfaya, Kristianne Porta Santos Fernandes, Raquel Agnelli Mesquita-Ferrari, Cristiane Miranda França, Sandra Kalil Bussadori
Med Sci Tech 2013; 54:76-78
DOI: 10.12659/MST.889235
Available online: 2013-05-31
Published: 2013-05-31
Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic disease characterized by the defective development of organs derived from structures of the ectoderm. The aim of the present study was to describe the orofacial characteristics of 3 clinical cases of HED in the same family.
Case Report: Three male patients (brothers) aged 4, 10, and 12 years with hypohidrotic ectodermal dysplasia were brought to the pediatric dentistry clinic by their mother, with a complaint of a small number of teeth in the oral cavity and aged faces. The clinical exam revealed sparse, thin, dry hair and eyebrows, flakey, wrinkled skin, saddle nose, loss of labial support, an elderly appearance, oligodontia, and anomalous cone-shaped deciduous and/or permanent teeth with no defined anatomic shape. The patients remain under clinical observation at the pediatric dentistry clinic for the establishment of function and esthetics.
Conclusions: These cases underscore the importance of dentists in the confirmation of the diagnosis of HED through a clinical exam as well as in the subsequent rehabilitation planning and follow-up.
Keywords: Ectodermal Dysplasia, Diagnosis, Child
