SciELO - Scientific Electronic Library Online

vol.139 issue12Ergotism secondary to ergotamine-ritonavir association: Report of three casesVirulence factors of Mycobacterium tuberculosis author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Revista médica de Chile

Print version 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.

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.

Keywords : Ectodermal dysplasia, hypohidrotic; Ectodysplasias; Mutation, missense.

        · text in Spanish     · Spanish ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License