Abstract

CALLEA, Michele; YAVUZ, Izzet; CLARICH, Gabriella  and  CAMMARATA-SCALISI, Francisco. Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia. Arch. argent. pediatr. [online]. 2015, vol.113, n.6, pp.e341-e344. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2015.e341.

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.

Keywords : Ectodermal dysplasia; X-linked hypohidrotic ectodermal dysplasia; EDA; c.1133C> T; p.T378M.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )