Ocular symptoms and signs in patients with ectodermal dysplasia syndromes

Graefes Arch Clin Exp Ophthalmol. 2004 Jun;242(6):495-500. doi: 10.1007/s00417-004-0868-0. Epub 2004 Feb 13.


Purpose: The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes.

Methods: Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin-Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity.

Methods: Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life.

Conclusions: Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Ectodermal Dysplasia / diagnosis*
  • Eye Diseases / diagnosis*
  • Eyelid Diseases / diagnosis
  • Female
  • Humans
  • Infant
  • Male
  • Meibomian Glands / pathology
  • Middle Aged
  • Syndrome