Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X

Translated title of the contribution: Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia

Michele Callea, Izzet Yavuz, Gabriella Clarich, Francisco Cammarata-Scalisi

Research output: Contribution to journalArticle

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 disorders. 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.

Translated title of the contributionClinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
Original languageSpanish
Pages (from-to)e341-e344
JournalArchivos Argentinos de Pediatria
Volume113
Issue number6
DOIs
Publication statusPublished - Dec 1 2015

Keywords

  • C.1133C> T
  • Ectodermal dysplasia
  • EDA
  • P.T378M
  • X-linked hypohidrotic ectodermal dysplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia'. Together they form a unique fingerprint.

  • Cite this