Revista médica de Chile
versión impresa ISSN 0034-9887
SALAS-ALANIS, Julio C et al. Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. Rev. méd. Chile [online]. 2011, vol.139, n.12, pp.1601-1604. ISSN 0034-9887. http://dx.doi.org/10.4067/S0034-98872011001200011.
Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmenta-tion, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.
Palabras clave : Ectodermal dysplasia, hypohidrotic; Ectodysplasias; Mutation, missense.