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 hyperpigmentation, 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.
All Science Journal Classification (ASJC) codes
Salas-Alanis, J. C., Cepeda-Valdés, R., González-Santos, A., Amaya-Guerra, M., Kurban, M., & Christiano, A. M. (2011). Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. Revista Medica de Chile, 1601-1604. https://doi.org/10.4067/S0034-98872011001200011