Infantile bilateral glaucoma in a child with ectodermal dysplasia

Michele Callea, Agatino Vinciguerra, Colin E. Willoughby, Laura Deroma, Gabriella Clarich

Research output: Contribution to journalArticlepeer-review

Abstract

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

Original languageEnglish
Pages (from-to)58-60
Number of pages3
JournalOphthalmic Genetics
Volume34
Issue number1-2
DOIs
Publication statusPublished - Mar 2013

Keywords

  • Hypodontia
  • Hypohidrotic ectodermal dysplasia
  • Infantile glaucoma

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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