Hypohydrotic ectodermal dysplasia: Report of case

Abstract

Hypohidrotic Ectodermal Dysplasia (DEH) is a genodermatosis that is characterized by alterations in the structures derived from the ectoderm. Frequently occurs this triad: hipohidrosis, hypotrichosis and hypodontia. The syndrome can manifest as autosomal dominant or recessive inheritance and also as sex-linked inheritance, the most common form is recessive X chromosome linked inheritance, subjects affected are males and femalesare only carriers. It can occur through autosomal mutations, and in these, the gene EDA1 are responsible for 58% of cases. It presents infant mortality rate between 2% and 20%, depending on the early diagnosis and treatment protocols. This article presents a 23-month-old patient who had been hospitalized for another condition, however observing the above mentioned features in the physical examination, he was studied in more detail in the IHSS.
Keywords
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive, Anodontia, Hypotrichosis