@article {8086, title = {[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].}, journal = {Arch Argent Pediatr}, volume = {113}, year = {2015}, month = {2015 Dec 1}, pages = {e341-4}, abstract = {

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.

}, issn = {1668-3501}, author = {Callea, Michele and Yavuz, Izzet and Clarich, Gabriella and Cammarata-Scalisi, Francisco} }