Anhidrotic Ectodermal Dysplasia: Different Fenotype in the Same Family

Background: Anhidrotic ectodermal dysplasia (AED) is a rare hereditary disorder with a triad os sparse hair, dental hypoplasia and anhidrosis. Most cases of AED are the X-linked form, while others are dominant o autosomal recessive form.

Objective: To report 4 cases of mild-moderate AED in four sisters, whose father also suffers from AED with the complete phenotype.

Methods: Clinical data were collected from a family with this disease.

Results: We report 4 cases of AED in four sisters. The genetical test revealed X-linked mutation of AED gen in all of them.

Case 1: 1 year old girl, she has had 2 bacterial pneumonias, recurrent wheezing and recurrent episodes of high grade fever. She has sparse hair, hypotricosis and small and pointed teeth. She is able to sweat.

Case 2: 2 years old girl, she has had 4 bacterial pneumonias, recurrent wheezing and recurrent episodes os high-grade fever. She has sparse hair, hypotricosis (image 1)and small and pointed teeth (image 2). She has very dry skin and she is not able to sweat, so it is very difficult to treat fever.

Case 3 : 3 years old girl, asimptomatyc.

Case 4 : 4 years old gir, she never had pneumonias but she has pointed teeth (picture 3) and sparse hair (picture 4)

Conclusion: the same genetic mutation presents with different grades of phenotypic alterations in the same family. It is important to suspect AED in children with rare teeth and sparse hair and freqent fever episodes.