title: [Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].
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.
authors.affiliation: Instituto para la salud materna y del niño Burlo Garofolo, Trieste, Italia.
authors.forename: Michele
authors.initials: M
authors.lastname: Callea
authors.affiliation: Departamento de Odontología Pediátrica, Facultad de Odontología, Universidad Dicle, Diyarbakir, Turquía.
authors.forename: Izzet
authors.initials: I
authors.lastname: Yavuz
authors.affiliation: Instituto para la salud materna y del niño Burlo Garofolo, Trieste, Italia.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Clarich
authors.affiliation: Unidad de Genética Médica, Departamento de Pediatría, Facultad de Medicina, Universidad de los Andes, Mérida, Venezuela.
authors.forename: Francisco
authors.initials: F
authors.lastname: Cammarata-Scalisi
mesh_terms: D002648:Child; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis* / Q000235:genetics; D053331:Ectodysplasins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D053331:Ectodysplasins