title: Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye.
abstract: OBJECTIVE
  X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical characteristics include meibomian gland disorder and the resulting hyperevaporative dry eye. In this study, we evaluated meibography and ocular infrared thermography as novel methods to diagnose XLHED.
  
  
  METHODS
  Eight infants, 12 boys and 14 male adults with XLHED and 12 healthy control subjects were subjected to a panel of tests including the ocular surface disease index (OSDI), meibography and infrared thermography, non-invasive measurement of tear film break-up time (NIBUT) and osmolarity, Schirmer's test, lissamine green staining and fluorescein staining. Sensitivity and specificity were determined for single tests and selected test combinations.
  
  
  RESULTS
  Meibography had 100% sensitivity and specificity for identifying XLHED. Infrared thermography, a completely non-invasive procedure, revealed a typical pattern for male subjects with XLHED. It was, however, less sensitive (86% for adults and 67% for children) than meibography or a combination of established routine tests. In adults, OSDI and NIBUT were the best single routine tests (sensitivity of 86% and 71%, respectively), whereas increased tear osmolarity appeared as a rather unspecific ophthalmic symptom. In children, NIBUT was the most convincing routine test (sensitivity of 91%).
  
  
  CONCLUSIONS
  Meibography is the most reliable ophthalmic examination to establish a clinical diagnosis in individuals with suspected hypohidrotic ectodermal dysplasia, even before genetic test results are available. Tear film tests and ocular surface staining are less sensitive in children, but very helpful for estimating the severity of ocular surface disease in individuals with known XLHED.
authors.affiliation: Augenarztpraxis , Heidelberg , Germany .
authors.forename: Thomas
authors.initials: T
authors.lastname: Kaercher
authors.forename: Jasna
authors.initials: J
authors.lastname: Dietz
authors.forename: Christina
authors.initials: C
authors.lastname: Jacobi
authors.forename: Reinhold
authors.initials: R
authors.lastname: Berz
authors.forename: Holm
authors.initials: H
authors.lastname: Schneider
mesh_terms: D000293:Adolescent; D000328:Adult; D001831:Body Temperature / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007259:Infrared Rays; D008297:Male; D008537:Meibomian Glands / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D008875:Middle Aged; D009994:Osmolar Concentration; D015203:Reproducibility of Results; D013666:Tears / Q000737:chemistry*; D013817:Thermography / Q000379:methods*; D055815:Young Adult
keywords: Dry eye; hypohidrotic ectodermal dysplasia; infrared thermography; meibography