X-Linked Anhidrotic Ectodermal Dysplasia: A Case Report

Anhidrotic Ectodermal Dysplasia (AED) is a congenital disease of ectodermal structures. The estimate incidence of AED is one in a one hundred thousand of living births. It is caused by mutation in EDA located in the long arm of chromosome 12 or 13 with an X-linked recessive pattern. This condition suffered by men but women in some cases may also show a range of symptoms. A case report of two brothers, a 7-year-old boy was referred to the office of Medical Genetics in the Faculty of Health Sciences at the University Centrocciodental "Lisandro Alvarado". The boy presented lack of sweating, dry skin and hypodontia. A 2-year-old girl was referred to the office of Medical Genetics in the Faculty of Health Sciences at the University Centrocciodental "Lisandro Alvarado". The girl presented lack of sweating, dry skin and hypodontia. The findings are discussed, the literature is reviewed, and patient's characteristics are compared with those found in other cases. The diagnosis of X-linked Anhidrotic Ectodermal Dysplasia is made because the mother has some features of the disease.